Um caso de leucemia mieloide aguda causada por uma modificação hereditária do genoma do indivíduo.
Introdução
O que você precisa saber de cara
Um caso de leucemia mieloide aguda causada por uma modificação hereditária do genoma do indivíduo.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição.
Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Crit
NucleusNucleus, nucleolus
Leukemia, acute myelogenous
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins
Cytoplasm
Spinocerebellar ataxia 35
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment.
Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end resection in double strand break (DSB) repair (PubMed:24507776, PubMed:37014751). Facilitates replication of complex DNA regions and regulates the maintenance of chromatin structure (PubMed:37014751)
NucleusCytoplasm, cytoskeleton, microtubule organizing center, centrosomeMitochondrionChromosome, centromere
Bone marrow failure syndrome 2
An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.
Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:2
Nucleus
Wiedemann-Steiner syndrome
A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.
Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or
MembraneEndoplasmic reticulum lumen
Leukemia, acute myelogenous
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.
Variantes genéticas (ClinVar)
920 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
38 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Leucemia mieloide aguda hereditária
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Publicações mais relevantes
Administering Bifidobacterium pseudolongum With Arsenic Trioxide Attenuates Acute Promyelocytic Leukemia in Mice by Restoring Immune Microenvironment and Intestinal Homeostasis.
Arsenic trioxide (ATO) is a cornerstone of acute promyelocytic leukemia (APL) therapy but induces severe gut microbiota dysbiosis, limiting its efficacy and safety. This study investigated whether adjunctive Bifidobacterium pseudolongum (BP) could mitigate these adverse effects and enhance therapeutic outcomes. 16S rRNA gene sequencing data of gut microbiota were obtained from a cohort of 22 APL patients treated with ATO-based regimens (20 of 22 data were obtained and analysis further), accessible under BioProject ID PRJNA935705. To evaluate the within-sample microbial community richness and evenness, alpha and beta diversity indices were calculated. Using a murine APL model, we compared ATO monotherapy with ATO+BP co-treatment. Analyses included fecal metagenomic sequencing, single-cell RNA sequencing (sc-RNA-seq), flow cytometric immune profiling, and assessment of intestinal tight junction proteins (claudin-1, occludin, and ZO-1) via immunofluorescence. ATO treatment significantly reduced gut microbial diversity and depleted beneficial taxa. Sc-RNA-seq data showed that ATO could orchestrate the APL immune microenvironment mainly through functional activation of CD8+ T cells and monocytes. BP supplementation restored microbial homeostasis and synergistically enhanced ATO's antileukemic effect, reducing the leukemic burden in peripheral blood by 72% and in bone marrow by 64% compared to ATO alone. Mechanistically, BP preserved intestinal barrier integrity by upregulating tight junction protein expression and modulated anti-tumor immunity, notably increasing bone marrow CD8+ T cells by 2.21-fold. BP is an effective adjunct to ATO therapy, counteracting gut dysbiosis, intestinal damage, and the immune microenvironment while synergistically improving antileukemic efficacy. Targeting the gut-leukemia axis with BP represents a promising strategy for improving the precision and safety of APL treatment. The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities. The diagnosis of a WAS-related disorder is established in a male proband with both congenital thrombocytopenia (<70,000 platelets/mm3) and small platelet size; at least one of the following features: eczema, recurrent bacterial, viral, and fungal infections, autoimmune disease(s), malignancy, reduced WASP expression in a fresh blood sample, abnormal antibody response to polysaccharide antigens and/or low isohemagglutinins, or positive maternal family history of a WAS-related disorder; and a hemizygous WAS pathogenic variant identified by molecular genetic testing (necessary to confirm the diagnosis). The diagnosis of a WAS-related disorder in a female is uncommon. It is usually established by identification of a heterozygous pathogenic variant in WAS by molecular genetic testing in a female with severe skewed X-chromosome inactivation and increased expression of the mutated WAS allele. Targeted therapies: Curative targeted therapies clinically available for Wiskott-Aldrich syndrome include allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy. Treatment of manifestations: In those with Wiskott-Aldrich syndrome and XLT, treatment is individualized based on disease manifestations and includes management of thrombocytopenia; prevention of infection with immunoglobulin replacement; topical steroids for eczema; antibiotics as needed for chronic skin infections; prophylactic antibiotics for Pneumocystis jirovecii in infants with Wiskott-Aldrich syndrome; intravenous immunoglobulin G; routine non-live immunizations; prompt evaluation and treatment for infection including empiric parenteral antibiotics and exhaustive search for source of infection; and judicious use of immunosuppressants for autoimmune disease prior to definitive treatment. In those with XLN, treatment includes granulocyte colony-stimulating factor therapy; routine non-live immunizations; prompt evaluation and treatment for infection including empiric parenteral antibiotics and exhaustive search for source of infection; and treatment of myelodysplastic syndrome and acute myelogenous leukemia per hematologist/oncologist. Surveillance: Complete blood count including platelet count and size and assessment for complications associated with increased bleeding as recommended by hematologist; annual skin examination; assessment by immunologist including for recurrent infections with frequency as recommended by immunologist; annual clinical assessment for autoimmune dysfunction and for manifestations of lymphoma. Agents/circumstances to avoid: Circumcision of at-risk newborn males who have thrombocytopenia; use of medications that interfere with platelet function. Defer elective procedures until after HSCT. Evaluation of relatives at risk: Evaluation of at-risk newborn males so that morbidity and mortality can be reduced by early diagnosis and treatment. Evaluation of relatives considering stem cell donation to inform transplant donor decision making. WAS-related disorders are inherited in an X-linked manner. If the mother of the proband is a carrier of the WAS pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be symptomatic. Females who inherit the pathogenic variant will be carriers and are typically asymptomatic. Males with a WAS-related disorder transmit the pathogenic variant to all of their daughters and none of their sons. Once the WAS pathogenic variant has been identified in a family member, molecular genetic testing to identify female heterozygotes and prenatal and preimplantation genetic testing are possible.
Prediction of myeloid malignant cells in Fanconi anemia using machine learning.
Fanconi anemia (FA) is an inherited bone marrow failure syndrome with cancer predisposition. Most FA patients develop aplastic anemia during childhood and have an extremely high cumulative risk to develop cancer during their lifespan. Myeloid malignancy is one of the main neoplastic risks for patients with FA, including high-risk myelodysplastic syndrome (MDS), recently renamed as myelodysplastic neoplasm, and acute myeloid leukemia (AML). Although bone marrow transplantation is the treatment of choice for FA patients that develop aplastic anemia, patients with a more stable bone marrow remain not transplanted and at a high risk of presenting MDS/AML, these patients therefore should be monitored for appearance of myeloid malignant clones. Markers for an as-early-as-possible identification of emerging myeloid malignant cells are needed for the monitoring of patients with FA, since quick medical action after detection of neoplastic transformation is needed. In this work we have developed a deep neural network (DNN) model that was trained with publicly available single cell RNA-seq (scRNA-seq) datasets of patients with AML and used to predict the presence of AML-like cells in scRNA-seq datasets obtained from bone marrow samples of patients with FA. The predictor displayed high sensitivity, specificity, and accuracy for the detection of single-cell resolution myeloid malignant transcriptional profiles. Functional analyses of the predicted-AML cells from FA patients showed enrichment of lympho-myeloid-primed progenitor (LMPP) and granulocyte-monocyte progenitor (GMP) populations, as well as transcriptional profiles associated with malignant transformation. Cues of immune evasion were also detected using single cell pathway analysis (SCPA) and cell-cell communication profiles. Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Characteristic physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: growth deficiency, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, genitourinary tract anomalies, and ocular manifestations. Endocrine disorders (hypothyroidism, diabetes / impaired glucose tolerance), hearing loss, developmental delay, congenital heart defects, and gastrointestinal malformations are also more common in those with FA. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) is 35% by age 40 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. The diagnosis of FA is established in a proband with increased chromosome breakage and radial forms on cytogenetic testing of lymphocytes with diepoxybutane (DEB) and mitomycin C (MMC) and/or one of the following identified on molecular genetic testing: biallelic pathogenic variants in one of the 21 genes known to cause autosomal recessive FA; a heterozygous pathogenic variant in RAD51 known to cause autosomal dominant FA; or a hemizygous pathogenic variant in FANCB known to cause X-linked FA. Targeted therapies: Oral androgens (e.g., oxymetholone, danazol) may transiently improve red blood cell and platelet counts in approximately 50% of individuals with FA. Granulocyte colony-stimulating factor improves the neutrophil count in some individuals. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of FA, but the non-hematologic manifestations remain, including a high risk for solid tumors, which may be increased following HSCT. All these therapies have potential significant toxicity. Treatment of manifestations: Treatment of growth deficiency, limb anomalies, other orthopedic manifestations, kidney malformations, genital anomalies, hypothyroidism, diabetes, ocular anomalies, hearing loss, and cardiac anomalies as recommended by the subspecialty care provider. Early intervention for developmental delays; individualized education plan for school-age children; speech, occupational, and physical therapy as needed. Supplemental feeding as needed by nasogastric tube or gastrostomy tube. Treatment of bone marrow failure / MDS / AML through a center with experience in FA; early detection and surgical removal for solid tumors; human papilloma virus vaccination to reduce the risk for gynecologic cancer in females and reduce the risk of oral cancer in all individuals; liberal use of sunscreen and rash guards; treatment of skin cancer per dermatologist in coordination with multidisciplinary experts in FA; social work and care coordination as needed. Surveillance: Clinical assessment of growth, feeding, nutrition, spine, and ocular issues at each visit throughout childhood. Annual ophthalmology examination; assessment of pubertal stage and hormone levels at puberty and every two years until puberty is complete; annual evaluation with endocrinologist including TSH, free T4, 25-hydroxyvitamin D, two-hour glucose tolerance testing, and measurement of insulin concentration; follow-up hearing evaluation if exposed to ototoxic drugs; annual developmental assessment throughout childhood; blood counts every three to four months or as needed; bone marrow aspirate and biopsy to evaluate morphology and cellularity; FISH and cytogenetics to evaluate for emergence of a malignant clone at least annually after age two years; liver function tests every three to six months and liver ultrasound every six to twelve months in those receiving androgen therapy; gynecologic assessment for genital lesions annually beginning at age 13 years; vulvo-vaginal examinations and Pap smear annually beginning at age 18 years or with onset of sexual activity; oral examinations for tumors every six months beginning at age nine to ten years; annual nasolaryngoscopy beginning at age ten years; dermatology evaluation every six to 12 months; annual abdominal ultrasound and brain MRI in those with BRCA2-related FA. Additional cancer surveillance for individuals with BRCA1-, BRCA2-, BRIP1-, PALB2-, and RAD51C-related FA per National Comprehensive Cancer Network (NCCN) screening guidelines. Agents/circumstances to avoid: Transfusions of red blood cells or platelets for persons who are candidates for HSCT; family members as blood donors if HSCT is being considered; blood products that are not filtered (leuko-depleted) or irradiated; toxic agents that have been implicated in tumorigenesis; excessive sun exposure; unsafe sex practices, which increase the risk of HPV-associated malignancy. Radiographic studies solely for the purpose of surveillance (i.e., in the absence of clinical indications) should be minimized. Evaluation of relatives at risk: Molecular genetic testing (if the family-specific pathogenic variant[s] are known) or DEB/MMC cytogenetic testing of all sibs of a proband (and all at-risk family members of an individual with autosomal dominant [RAD51-related] or X-linked [FANCB-related] FA) for early diagnosis, treatment, and monitoring for physical abnormalities, bone marrow failure, and related cancers. FA is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA). Autosomal recessive FA: If both parents are known to be heterozygous for an autosomal recessive FA-related pathogenic variant, each sib of an affected individual has at conception a 25% chance of inheriting both pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither of the familial FA-related pathogenic variants. Heterozygotes are not at risk for autosomal recessive FA. However, heterozygous pathogenic variants in a subset of FA-related genes (e.g., BRCA1, BRCA2, PALB2, BRIP1, and RAD51C) are associated with an increased risk for breast and other cancers. Heterozygote testing for at-risk relatives requires prior identification of the FA-related pathogenic variants in the family. Autosomal dominant FA: Given that all probands with RAD51-related FA reported to date whose parents have undergone molecular genetic testing have the disorder as a result of a de novo RAD51 pathogenic variant, the risk to other family members is presumed to be low. X-linked FA: The risk to sibs of a male proband depends on the genetic status of the mother. If the mother of the proband has a FANCB pathogenic variant, the chance of the mother transmitting it in each pregnancy is 50%. Male sibs who inherit the pathogenic variant will be affected. Female sibs who inherit the pathogenic variant will be heterozygotes and will usually not be affected. Heterozygote testing for at-risk female relatives requires prior identification of the FANCB pathogenic variant in the family. Molecular genetic prenatal testing and preimplantation genetic testing are possible if the pathogenic variant(s) in the family are known.
Case Report: Allogeneic hematopoietic stem cell transplantation in a patient with triple-allele expression at both HLA-B and HLA-C loci.
Human leukocyte antigen (HLA) matching is critical for donor selection in allogeneic hematopoietic stem cell transplantation (allo-HSCT). Each HLA locus is normally biallelic; however, exceptionally rare cases with more than two alleles at a single locus have been reported. We describe a 17-year-old male with mixed phenotype acute leukemia (T/myeloid) who was found to carry three alleles at both the HLA-B and HLA-C loci during pre-transplant evaluation. Family-based HLA typing revealed that the additional alleles were inherited as part of a single maternal haplotype shared by multiple siblings. Flow cytometric analysis using antisera with known HLA specificity demonstrated that all three HLA-B and HLA-C alleles were expressed on the cell surface. Because this unusual immunogenetic configuration precluded the identification of an unrelated donor, a sibling donor sharing the same triple-allele haplotype was selected despite a single HLA-A mismatch. Allo-HSCT was successfully performed, with manageable graft-versus-host disease. This case highlights an extremely rare immunogenetic configuration in which triple-allele expression at two HLA class I loci directly influenced donor selection for allo-HSCT. Comprehensive interpretation of HLA typing results, including family analysis and protein-level expression, is essential when such atypical findings are encountered.
Extensive cerebral venous sinus thrombosis with hemorrhagic venous infarction as the initial presentation of acute myeloid leukemia: A case report.
Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults and may present with nonspecific symptoms, leading to delayed recognition. Although CVT is associated with multiple acquired and inherited prothrombotic states, presentation as the first manifestation of acute myeloid leukemia (AML) is distinctly uncommon and poses diagnostic and therapeutic challenges, particularly when intracranial hemorrhage is present. We report the case of a 34-year-old woman with no significant past medical history who presented with sudden severe headache, vomiting, photophobia, and right-sided blurry vision. Initial noncontrast computed tomography (CT) of the brain demonstrated a right lateral occipitotemporal intraparenchymal hemorrhage with surrounding edema and hyperdense dural venous sinuses suspicious for venous thrombosis. CT venography confirmed extensive dural venous sinus thrombosis involving the straight sinus, right transverse and sigmoid sinuses, posterior superior sagittal sinus, with extension to the right internal jugular vein and involvement of the vein of Galen. Laboratory evaluation revealed leukopenia with severe neutropenia, macrocytic anemia, and borderline thrombocytopenia; peripheral smear showed circulating blasts, prompting hematologic workup. Bone marrow examination demonstrated marked blast infiltration with immunophenotypic features consistent with AML without maturation. This case underscores the importance of evaluating for underlying hematologic malignancy in patients presenting with extensive or unprovoked CVT, especially when cytopenias or abnormal peripheral blood findings are present, and highlights the need for early multidisciplinary management when thrombosis coexists with intracranial hemorrhage.
A Review of CEBPA's Role in Hereditary Leukemia.
Advances in genetic testing have allowed for extensive testing and identification of previously unrecognized inherited conditions; a prominent area of this research includes familial patterns of acute myeloid leukemia (AML). Recognition of familial related hematologic malignancies can have lasting implications for both patients and their treatment plans, as well as their families. This review summarizes the specific familial AML disease, CCAAT/enhancer binding protein-alpha (CEBPA) associated AML. We highlight CEBPA's function, pathogenesis, and potential treatment considerations after identification of the pathogenic or likely pathogenic (P/LP) germline mutations in cases of AML. Discussion of testing and screening for affected family members is also reviewed. Identification of CEBPA familial AML is necessary for appropriate treatment planning and has additional implications for familial testing and screening. Clinical practice is still evolving treatment paradigms for these patients and their families. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.
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📚 EuropePMC1 artigos no totalmostrando 200
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Clinical and experimental medicinePolypharmacy-Induced Long QT Syndrome in a Patient With Newly Diagnosed Acute Myeloid Leukaemia: A Case Report.
CureusANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia.
CureusSomatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Clinical cancer research : an official journal of the American Association for Cancer ResearchExploring underlying mechanism of artesunate in treatment of acute myeloid leukemia using network pharmacology and molecular docking.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoUnrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.
International journal of hematologyPlatelet transcriptome analysis in patients with germline RUNX1 mutations.
Journal of thrombosis and haemostasis : JTHSynchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review.
MedicineImpact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test.
Molecular genetics and metabolism reportsReal-Time Characterization of Clonal Fate Decisions in Complex Leukemia Samples by Fluorescent Genetic Barcoding.
CellsMesenchymal stem/stromal cells from a transplanted, asymptomatic patient with Fanconi anemia exhibit an aging-like phenotype and dysregulated expression of genes implicated in hematopoiesis and myelodysplasia.
CytotherapyDDX41-associated susceptibility to myeloid neoplasms.
BloodThe spectrum of GATA2 deficiency syndrome.
BloodClonal Hematopoiesis and Its Impact on Human Health.
Annual review of medicineNew C3H KitN824K/WT cancer mouse model develops late-onset malignant mammary tumors with high penetrance.
Scientific reportsGenetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Molecular biology reportsCurcumin combined with arsenic trioxide in the treatment of acute myeloid leukemia: network pharmacology analysis and experimental validation.
Journal of cancer research and clinical oncologyA RUNX1-FPDMM rhesus macaque model reproduces the human phenotype and predicts challenges to curative gene therapies.
BloodApproach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies.
Current hematologic malignancy reportsRadiation and leukaemia: Which leukaemias and what doses?
Blood reviewsRUNX1-deficient human megakaryocytes demonstrate thrombopoietic and platelet half-life and functional defects.
BloodGermline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
British journal of haematologyGenomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.
BloodDisclosing an In-Frame Deletion of the Titin Gene as the Possible Predisposing Factor of Anthracycline-Induced Cardiomyopathy: A Case Report.
International journal of molecular sciencesA Systematic Review of the Role of Runt-Related Transcription Factor 1 (RUNX1) in the Pathogenesis of Hematological Malignancies in Patients With Inherited Bone Marrow Failure Syndromes.
CureusANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms.
Current hematologic malignancy reportsPrevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases.
PlateletsOverview of inherited bone marrow failure syndromes.
Blood researchTuberous sclerosis complex: a complex case.
Cold Spring Harbor molecular case studiesNovel Translational Read-through-Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome.
BiomedicinesColony-stimulating factor 3 receptor (CSF3R) M696T mutation does not impact on clinical outcomes of a Ph+ acute lymphoblastic leukemia patient.
Blood science (Baltimore, Md.)Ruxolitinib ameliorates progressive anemia and improves survival during episodes of emergency granulopoiesis in Fanconi C-/- mice.
Experimental hematologyA novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.
Cold Spring Harbor molecular case studiesWhat Clonal Hematopoiesis Can Teach Us About MDS.
Frontiers in oncologyAcquired FVII Deficiency and Acute Myeloid Leukemia: A Case Report and Literature Review.
Laboratory medicineDonor-Derived Leukemia in a Recipient of Double-Unit Cord Blood Transplantation for Acute Myeloid Leukemia: A Case Study and Literature Review.
Oncology and therapyThe contributing factors of resistance or sensitivity to epigenetic drugs in the treatment of AML.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoMolecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.
Life (Basel, Switzerland)Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family.
Molecular genetics & genomic medicineCase Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.
Frontiers in immunologyHow predictive is the finding of clonal hematopoiesis for the development of myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML)?
Best practice & research. Clinical haematologyHematologic complications with age in Shwachman-Diamond syndrome.
Blood advancesRadiation-sparing reduced-intensity unrelated umbilical cord blood transplantation for rare hematological disorders in children.
International journal of hematologyGermline CEBPA mutation in familial acute myeloid leukemia.
Hematology reportsIdentification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
International journal of hematologyRegeneration of antigen-specific T cells by using induced pluripotent stem cell (iPSC) technology.
International immunologyCancer in Children With Fanconi Anemia and Ataxia-Telangiectasia-A Nationwide Register-Based Cohort Study in Germany.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyStress hematopoiesis induces a proliferative advantage in TET2 deficiency.
LeukemiaIncorporating genetic counseling into the evaluation of pediatric bone marrow failure.
Journal of genetic counselingThe consensus from The Chinese Society of Hematology on indications, conditioning regimens and donor selection for allogeneic hematopoietic stem cell transplantation: 2021 update.
Journal of hematology & oncologyCommon Genetic Aberrations Associated with Metabolic Interferences in Human Type-2 Diabetes and Acute Myeloid Leukemia: A Bioinformatics Approach.
International journal of molecular sciencesHematopoietic stem cell transplantation for classical inherited bone marrow failure syndromes: an update.
Expert review of hematologyIdentification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.
BloodXeroderma pigmentosum and acute myeloid leukemia: a case report.
Journal of medical case reportsGATA2 rs2335052 and GATA2 rs78245253 single-nucleotide polymorphisms in Chinese patients with acute myelocytic leukemia.
International journal of laboratory hematologyNK Cell Development and Function in Patients with Fanconi Anemia.
Critical reviews in immunologySomatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.
The Journal of clinical investigationAcute myeloid leukemia arising to genetic susceptibility genes related T cell acute lymphoblastic leukemia: case report.
AME case reportsPediatric Myelodysplastic Syndromes.
Clinics in laboratory medicineGermline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
LeukemiaNovel combined variants of WT1 and TET2 in a refractory and recurrent AML patient.
BMC medical genomicsRecent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.
International journal of molecular sciencesCommon clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant.
Cold Spring Harbor molecular case studies[Familial platelet disorder with predisposition to myeloid leukemia (FPD/AML): a case report and literature review].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi[Diagnosis and treatment of childhood myelodysplastic syndrome].
[Rinsho ketsueki] The Japanese journal of clinical hematologyHigh penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.
Cancer geneticsMyelodysplastic syndrome with genetic predisposition.
Blood researchIncreased risk of leukaemia in children with Down syndrome: a somatic evolutionary view.
Expert reviews in molecular medicineCombating drug resistance in acute myeloid leukaemia by drug rotations: the effects of quizartinib and pexidartinib.
Cancer cell internationalImpact of ABCB1 Gene (C3435T/A2677G) Polymorphic Sequence Variations on the Outcome of Patients with Chronic Myeloid Leukemia and Acute Lymphoblastic Leukemia in Kashmiri Population: A Case-Control Study.
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionA novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
PlateletsRevertant somatic mosaicism as a cause of cancer.
Cancer scienceRestoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation.
Blood advances[A Case-Control Study on Receptor Gene Polymorphism and Risk Suffering from Adult Acute Leukemia in Fujian Area].
Zhongguo shi yan xue ye xue za zhiLongGF: computational algorithm and software tool for fast and accurate detection of gene fusions by long-read transcriptome sequencing.
BMC genomicsIncorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias.
British journal of haematologyThe genomic landscape of pediatric acute lymphoblastic leukemia and precision medicine opportunities.
Seminars in cancer biologyNovel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.
CancersHeterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Blood advancesAdoptive immunotherapy with CB following chemotherapy for patients with refractory myeloid malignancy: chimerism and response.
Blood advancesGATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes.
CancersTelomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Blood advancesChallenging the concept of de novo acute myeloid leukemia: Environmental and occupational leukemogens hiding in our midst.
Blood reviewsT-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.
Journal of pediatric hematology/oncologyDiagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium.
Pediatric blood & cancerAssociation of killer-cell immunoglobulin-like receptor genes with acute myelogenous leukaemia.
International journal of immunogeneticsMolecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
BloodNonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
International journal of molecular sciencesInherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome.
Journal of investigative medicine high impact case reportsHereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mayo Clinic proceedingsSecondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
BloodInvestigating Human Mitochondrial Genomes in Single Cells.
GenesGermline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.
Science advancesComprehensive proteomic analysis of murine terminal erythroid differentiation.
Blood advancesCancer and myeloid clonal evolution in the short telomere syndromes.
Current opinion in genetics & developmentThe complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nature communicationsComparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationCancer spectrum and outcomes in the Mendelian short telomere syndromes.
BloodInsights into the Involvement of Spliceosomal Mutations in Myelodysplastic Disorders from Analysis of SACY-1/DDX41 in Caenorhabditis elegans.
GeneticsRUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia.
Molecules and cellsCellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure.
JCI insightHighly multiplexed proteomic assessment of human bone marrow in acute myeloid leukemia.
Blood advancesConfirming the recessive inheritance of PERP-related erythrokeratoderma.
Clinical geneticsClinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
The Lancet. HaematologyAML through the prism of molecular genetics.
British journal of haematologyHow I investigate acute myeloid leukemia.
International journal of laboratory hematologyMonitoring and treatment of MDS in genetically susceptible persons.
Hematology. American Society of Hematology. Education Program[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsGENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant.
Stem cell researchClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Blood advancesGenomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder.
Leukemia & lymphomaCertain Killer Immunoglobulin-Like Receptor (KIR)/KIR HLA Class I Ligand Genotypes Influence Natural Killer Antitumor Activity in Myelogenous Leukemia but Not in Acute Lymphoblastic Leukemia: A Case Control Leukemia Association Study.
Turkish journal of haematology : official journal of Turkish Society of HaematologyOutcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation[Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases].
[Rinsho ketsueki] The Japanese journal of clinical hematologyHereditary myeloid malignancies.
Best practice & research. Clinical haematologyInherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia.
International journal of laboratory hematologyAn inherited variant of transcription factor RUNX1 related to thrombocytopenia with predisposition to acute myeloid leukaemia.
International journal of laboratory hematologyERCC6L2 defines a novel entity within inherited acute myeloid leukemia.
BloodDe Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
American journal of human geneticsUltra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.
Frontiers in immunologyMutation, drift and selection in single-driver hematologic malignancy: Example of secondary myelodysplastic syndrome following treatment of inherited neutropenia.
PLoS computational biologyBone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyAcquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.
Seminars in hematologyA tired young man with a dysmorphic thumb.
BMJ (Clinical research ed.)Identifying patients with genetic predisposition to acute myeloid leukemia.
Best practice & research. Clinical haematologyAdoptive Immunotherapy with Cord Blood for the Treatment of Refractory Acute Myelogenous Leukemia: Feasibility, Safety, and Preliminary Outcomes.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationShwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Molecular diagnosis & therapyRevisiting acquired aplastic anaemia: current concepts in diagnosis and management.
Internal medicine journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Administering Bifidobacterium pseudolongum With Arsenic Trioxide Attenuates Acute Promyelocytic Leukemia in Mice by Restoring Immune Microenvironment and Intestinal Homeostasis.
- Prediction of myeloid malignant cells in Fanconi anemia using machine learning.
- Case Report: Allogeneic hematopoietic stem cell transplantation in a patient with triple-allele expression at both HLA-B and HLA-C loci.
- Extensive cerebral venous sinus thrombosis with hemorrhagic venous infarction as the initial presentation of acute myeloid leukemia: A case report.
- A Review of CEBPA's Role in Hereditary Leukemia.
- Network pharmacology, molecular docking, and experimental validation-based approach to explore the mechanism of action of ginsenoside Rh4 on acute myeloid leukemia cells.
- Targeting PRDX1 impairs acute myeloid leukemic blasts and stem cells by disrupting redox homeostasis.
- Germline and Somatic Changes Associated with the Development of Inherited and De Novo Pediatric Acute Myeloid Leukemia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:319465(Orphanet)
- MONDO:0017893(MONDO)
- GARD:17450(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014049(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
