Um crescimento anormal de tecido que pode ser benigno (não-canceroso) ou maligno (canceroso) na glândula tireoide.
Introdução
O que você precisa saber de cara
O tumor tireoidiano raro é um crescimento incomum de tecido na glândula tireoide, podendo ter comportamento benigno ou maligno. Entre os sinais que a pessoa e a família podem notar estão rouquidão na voz, inchaço nos gânglios do pescoço e falta de ar ou cansaço ao respirar. Esta condição não consta na lista oficial de diretrizes e PCDTs de doenças raras do Ministério da Saúde. Por isso, não existem medicamentos específicos dispensados pelo SUS listados para esse diagnóstico genérico, devendo o paciente ser acompanhado na rede de atenção especializada.
Um crescimento anormal de tecido que pode ser benigno (não-canceroso) ou maligno (canceroso) na glândula tireoide.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 38 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 115 características clínicas mais associadas, ordenadas por frequência.
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
33 genes identificados com associação a esta condição.
Costello syndrome
A rare condition characterized by prenatally increased growth, postnatal growth deficiency, intellectual disability, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities.
Thyroid cancer, non-medullary, 2
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Hurthle cell thyroid carcinoma
A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type.
Congenital insensitivity to pain with anhidrosis
Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.
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.
Hypothyroidism, congenital, non-goitrous, 2
A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
Chorea, hereditary benign
A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.
Ovarian dysgenesis 8
An autosomal dominant form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Thyroid cancer, non-medullary, 5
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Thyroid cancer, non-medullary, 2
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Bamforth-Lazarus syndrome
An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis.
Hirschsprung disease 1
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Leukemia, juvenile myelomonocytic
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Variantes genéticas (ClinVar)
521 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
174 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 — Tumor tireoidiano raro
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 2 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
9 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Columnar cell variant of papillary thyroid carcinoma in an adolescent: a comprehensive histopathological, immunohistochemical, and molecular analysis.
The columnar cell variant (CCV) of papillary thyroid carcinoma (PTC) is a rare histological subtype with distinct morphological and immunohistochemical (IHC) features, which can present diagnostic challenges. We report a case of a 13-year-old girl diagnosed with CCV of PTC (CCV-PTC) following a total thyroidectomy for a solitary thyroid nodule. Histopathological (HP) examination revealed aggressive features, including vascular invasion and extrathyroidal extension. However, no metastases or recurrences were observed during six years of follow-up. This case report provides a comprehensive analysis of a rare CCV-PTC in an adolescent, focusing on its HP, IHC, and molecular characteristics. It also discusses diagnostic pitfalls and differential diagnoses that should be considered.
Spindle epithelial tumor with thymus-like elements (SETTLE): a surgical case diagnosed preoperatively using fine-needle aspiration cytology.
Spindle epithelial tumor with thymic-like elements (SETTLE) is an extremely rare tumor that occurs primarily in the thyroid gland. Histologically, SETTLE is characterized by the presence of spindle-shaped epithelial cells and glandular structures. However, it is known that diagnosis via fine-needle aspiration cytology can be challenging. SETTLE predominantly occurs in younger individuals and has a less favorable prognosis compared to differentiated thyroid carcinoma. Therefore, ensuring accurate diagnosis and appropriate treatment is crucial. We encountered a case of spindle epithelial tumor with thymus-like differentiation in a 10-year-old patient for whom the preoperative diagnosis was successfully established through fine-needle aspiration cytology, which facilitated appropriate surgical resection. Comprehensive histopathological examination and immunohistochemical analysis are essential to ensure appropriate management and surveillance of SETTLE. A rare thyroid tumor, spindle epithelial tumor with thymic-like elements (SETTLE), was diagnosed preoperatively and treated surgically. SETTLE presents with characteristic histological features that must be recognized for accurate diagnosis. In addition, diagnosis through cytology is often challenging. The primary treatment for SETTLE is surgical intervention as radiotherapy and pharmacological treatments are generally not expected to be highly effective. Radical resection is the only effective treatment, making the selection of the surgical procedure according to the stage of the disease essential.
Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia: a case report and review of the literature.
Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia (SMECE) is a rare thyroid tumor. More and more reports have proposed that sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia is significantly invasive, but its origin and pathogenesis are currently controversial. We presented a 42-year-old female of Han ethnicity. She had a 4-year history of thyroid nodules, and mild decrease in thyroid function was observed at the time of surgery. Subsequently, pathological examination revealed typical morphological characteristics of sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia. Compared with surrounding normal thyroid tissues, significant eosinophil infiltration was observed in the tumor stroma. Negative thyroglobulin immunohistochemical staining and uniquely positive expression of tumor protein p63 and cytokeratin 5/6 were detected in tumor cells. No genetic mutation was detected by next-generation sequencing. No extrathyroid invasion, lymph node metastasis, or distant metastasis was found. The patient was alive without evidence of disease after 24 months of follow-up. The case presentation supported this point that sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia originated from solid cell nests, and eosinophils might play an important role in the tumorigenesis and development of sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia. In addition, a comprehensive analysis of the previously reported cases from reported literature revealed that age and distant metastasis might be the risk factors affecting prognosis.
[Intrathyroid thymic carcinoma: report of a case].
Objective: Intrathyroid thymic carcinoma(ITTC) is a rare thyroid tumor that lacks typical clinical manifestations and imaging features, making preoperative diagnosis challenging.The primary treatment for ITTC is radical surgery; however, the effectiveness of adjuvant radiotherapy and chemotherapy post-surgery is not well-established. This paper presents a case of ITTC , analyzing the clinical data and correlating it with the literature to explore the clinical manifestations, diagnostic approach, treatment, and prognosis of ITTC. 目的:甲状腺内胸腺癌(intrathyroid thymic carcinoma,ITTC)是一种罕见的甲状腺肿瘤,缺乏典型的临床表现及影像学特征,术前诊断较为困难,根治性手术治疗是其首选的治疗方式,术后是否辅以放化疗,尚无明确结论。本文报道1例ITTC患者,分析该病例临床资料并结合相关文献,探讨ITTC的临床表现、诊疗及预后。.
The coexistence of papillary thyroid carcinoma, anaplastic thyroid carcinoma (squamous cell carcinoma subtype) and poorly differentiated thyroid carcinoma: a case report.
Papillary thyroid carcinoma (PTC) accounts for about 60% of adult thyroid carcinoma and generally has an excellent prognosis. Primary squamous cell carcinoma of thyroid (PSCCT) is a rare thyroid tumor with high malignancy and poor prognosis. In 2022, the 5th edition of World Health Organization (WHO) has classified it as a subtype of anaplastic thyroid carcinoma (ATC), abbreviated as ATC-squamous cell carcinoma (SCC) subtype. Poorly differentiated thyroid carcinoma (PDTC) is a kind of follicular-derived malignancy, which is prone to recurrence and distant metastasis. Here, we report a rare case of the coexistence of PTC, ATC-SCC subtype and PDTC. We herein report a case of 69-year-old female who initially presented with a history of left neck mass for one month. Comprehensive auxiliary examinations and postoperative pathology confirmed the diagnosis of PTC combined with ATC-SCC subtype, and PDTC. Total thyroidectomy with radical left cervical lymph node dissection was performed, followed by thyroid-stimulating hormone (TSH) suppressive therapy, 131I, radiotherapy and chemotherapy. The patient showed no tumor recurrence or metastasis after a 5-month postoperative follow-up. The simultaneous occurrence of PTC, ATC-SCC subtype, and PDTC is extremely rare in clinical terms or literature reports. The treatment has not been standardized, and early radical surgery is the first choice. In addition, the combination of adjuvant therapies such as TSH suppressive therapy, radiotherapy, chemotherapy and 131I may further improve the prognosis of the patient.
Publicações recentes
Columnar cell variant of papillary thyroid carcinoma in an adolescent: a comprehensive histopathological, immunohistochemical, and molecular analysis.
Spindle epithelial tumor with thymus-like elements (SETTLE): a surgical case diagnosed preoperatively using fine-needle aspiration cytology.
Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia: a case report and review of the literature.
[Intrathyroid thymic carcinoma: report of a case].
The coexistence of papillary thyroid carcinoma, anaplastic thyroid carcinoma (squamous cell carcinoma subtype) and poorly differentiated thyroid carcinoma: a case report.
📚 EuropePMC1 artigos no totalmostrando 15
Columnar cell variant of papillary thyroid carcinoma in an adolescent: a comprehensive histopathological, immunohistochemical, and molecular analysis.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieSpindle epithelial tumor with thymus-like elements (SETTLE): a surgical case diagnosed preoperatively using fine-needle aspiration cytology.
Endocrinology, diabetes & metabolism case reportsSclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia: a case report and review of the literature.
Journal of medical case reports[Intrathyroid thymic carcinoma: report of a case].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryThe coexistence of papillary thyroid carcinoma, anaplastic thyroid carcinoma (squamous cell carcinoma subtype) and poorly differentiated thyroid carcinoma: a case report.
AME case reportsCytomorphological traits of fine-needle aspirates of hyalinizing trabecular tumor of the thyroid gland: A brief report.
Indian journal of pathology & microbiologyCase report: Thymoid differentiated carcinoma of thyroid: Two cases.
Frontiers in surgeryType 2 deiodinase is expressed in anaplastic thyroid carcinoma and its inhibition causes cell senescence.
Endocrine-related cancerOutcome of patients with intrathyroidal thymic carcinoma: a pooled analysis.
Endocrine-related cancerParathyroid carcinoma with sarcomatoid differentiation: a case report and literature review.
Diagnostic pathologyMedullary thyroid carcinoma combined with papillary thyroid carcinoma: case report and literature review.
International journal of clinical and experimental pathologySRY‑related HMG box‑2 role in anaplastic thyroid cancer aggressiveness is related to the fibronectin 1 and PI3K/AKT pathway.
Molecular medicine reportsTypical manifestations of Hürthle cell adenoma of the thyroid on contrast-enhanced CT: A case report.
MedicineClinical utility of genetic diagnosis for sporadic and hereditary medullary thyroid carcinoma.
Annales d'endocrinologieHyalinizing Trabecular Tumor of the Thyroid Gland, a Diagnostic Challenge in Fine-Needle Aspiration Cytology: Case Report.
Journal of pathology and translational medicineAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Tumor tireoidiano raro e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Trata-se de um crescimento anormal de tecido localizado na tireoide, o qual pode ser não canceroso (benigno) ou canceroso (maligno). A condição é categorizada sob o código Orpha 100087 e possui prevalência estimada entre 1 e 9 a cada 100.000 indivíduos.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Tumor tireoidiano raro. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/tumor-tireoidiano-raro
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Tumor tireoidiano raro
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov