# Carcinoma da tireoide diferenciado

> Página oficial: https://raras.org/doenca/carcinoma-da-tireoide-diferenciado
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 146 — https://www.orpha.net/en/disease/detail/146
- **CID-10**: C73
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O carcinoma diferenciado da tireoide (CDT), também conhecido como carcinoma papilar ou folicular da tireoide, é uma doença maligna de crescimento lento que geralmente se apresenta em adultos como uma massa tireoidiana assintomática.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Not applicable

## Sinais e sintomas (32 fenótipos HPO)

- **Carcinoma medular de tireoide** — HPO: HP:0002865
- **Dor óssea** — HPO: HP:0002653
- **Hiperidrose** — HPO: HP:0000975
- **Neoplasia ovariana** — HPO: HP:0100615
- **Carcinoma de tireoide não medular** — HPO: HP:0040198
- **Neoplasia do pulmão** — HPO: HP:0100526
- **Fraturas recorrentes** — HPO: HP:0002757
- **Bócio nodular** — HPO: HP:0005994
- **Compressão da medula espinhal** — HPO: HP:0002176
- **Calcitonina elevada** — HPO: HP:0003528
- **Disfagia** — HPO: HP:0002015
- **Neoplasia do sistema esquelético** — HPO: HP:0010622
- **Linfadenopatia** — HPO: HP:0002716
- **Anormalidade dos linfonodos** — HPO: HP:0002733
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Perda de peso** — HPO: HP:0001824
- **Dor** — HPO: HP:0012531
- **Câncer de próstata** — HPO: HP:0012125
- **Morfologia anormal do parênquima hepático** — HPO: HP:0030146
- **Bócio** — HPO: HP:0000853
- **Hiperparatireoidismo primário** — HPO: HP:0008200
- **Carcinoma papilífero de tireoide** — HPO: HP:0002895
- **Anormalidade do vaso sanguíneo do pescoço** — HPO: HP:3000037
- **Carcinoma de células renais papilífero** — HPO: HP:0006766
- **Disfonia** — HPO: HP:0001618
- **Carcinoma folicular de tireoide** — HPO: HP:0006731
- **Neoplasia de cabeça e pescoço** — HPO: HP:0012288
- **Carcinoma basocelular** — HPO: HP:0002671
- **Diarreia** — HPO: HP:0002014
- **Feocromocitoma** — HPO: HP:0002666
- **Câncer de cólon** — HPO: HP:0003003
- **Linfadenopatia crônica não infecciosa** — HPO: HP:0002730

## Genes associados (33)

- **HRAS** — GTPase HRas [Disease-causing somatic mutation(s) in]
  - Função: Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151)
- **TRIM33** — E3 ubiquitin-protein ligase TRIM33 [Part of a fusion gene in]
  - Função: Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease
- **NCOA4** — Nuclear receptor coactivator 4 [Part of a fusion gene in]
  - Função: Cargo receptor for the autophagic turnover of the iron-binding ferritin complex, playing a central role in iron homeostasis (PubMed:25327288, PubMed:26436293). Acts as an adapter for delivery of ferri
- **NDUFA13** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 [Disease-causing somatic mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfe
- **SRGAP1** — SLIT-ROBO Rho GTPase-activating protein 1 [Candidate gene tested in]
  - Função: GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. S
- **EIF1AX** — Eukaryotic translation initiation factor 1A, X-chromosomal [Disease-causing somatic mutation(s) in]
  - Função: Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon (PubMed:9732867). This protein e
- **TRIM27** — Zinc finger protein RFP [Part of a fusion gene in]
  - Função: E3 ubiquitin-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or aut
- **GAS8-AS1** — Uncharacterized protein GAS8-AS1 [Disease-causing somatic mutation(s) in]
- **NTRK1** — High affinity nerve growth factor receptor [Part of a fusion gene in]
  - Função: Receptor tyrosine kinase involved in the development and the maturation of the central and peripheral nervous systems through regulation of proliferation, differentiation and survival of sympathetic a
- **LPAR4** — Lysophosphatidic acid receptor 4 [Disease-causing somatic mutation(s) in]
  - Função: Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. Transduces a signal by increasing the intracellular calcium ions and by stimulating adenylyl cyclase activity. The
- **NKX2-1** — Homeobox protein Nkx-2.1 [Major susceptibility factor in]
  - Função: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differe
- **ALK** — ALK tyrosine kinase receptor [Part of a fusion gene in]
  - Função: Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differe
- **TPR** — Nucleoprotein TPR [Part of a fusion gene in]
  - Função: Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal
- **PAX8** — Paired box protein Pax-8 [Part of a fusion gene in]
  - Função: Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells
- **DIRC3** [Major susceptibility factor in]

## Ensaios clínicos ativos (35)

- **NCT05852223** [RECRUITING]: Pembrolizumab in High-risk Thyroid Cancer — https://clinicaltrials.gov/study/NCT05852223
- **NCT06458036** [RECRUITING]: Selpercatinib Pre-RAI in Patients With RET Fusion Thyroid Cancer (RAISE) — https://clinicaltrials.gov/study/NCT06458036
- **NCT05538130** [RECRUITING]: A Study to Learn About the Study Medicine Called PF-07799544 as Monotherapy or in Combination in People With Advanced Solid Tumors — https://clinicaltrials.gov/study/NCT05538130
- **NCT06475989** [RECRUITING]: Study of Targeted Therapy vs. Chemotherapy in Patients With Thyroid Cancer — https://clinicaltrials.gov/study/NCT06475989
- **NCT05604963** [RECRUITING]: Hemithyroidectomy or Total-Thyroidectomy in 'Low-risk' Thyroid Cancers — https://clinicaltrials.gov/study/NCT05604963
- **NCT05575440** [RECRUITING]: Evaluation of 18F-TFB PET/CT Scan in Patients With Differentiated Thyroid Cancer — https://clinicaltrials.gov/study/NCT05575440
- **NCT07436455** [RECRUITING]: F-18 Tetrafluoroborate PET/CT in Differentiated Thyroid Cancer — https://clinicaltrials.gov/study/NCT07436455
- **NCT07068542** [RECRUITING]: Sacituzumab Tirumotecan Combined With Immunotherapy in Advanced Thyroid Cancer — https://clinicaltrials.gov/study/NCT07068542
- **NCT05599139** [RECRUITING]: Iodine Uptake After a Low Iodine Diet — https://clinicaltrials.gov/study/NCT05599139
- **NCT06440850** [RECRUITING]: Vemurafenib and Cobimetinib for the Treatment of Patients With High Risk Differentiated Thyroid Carcinoma With BRAFV600E Mutation — https://clinicaltrials.gov/study/NCT06440850

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor tireoidiano raro](https://raras.org/doenca/tumor-tireoidiano-raro) — ORPHA:100087 — 32 sintomas em comum
- [Carcinoma da tireoide raro](https://raras.org/doenca/carcinoma-da-tireoide-raro) — ORPHA:100088 — 32 sintomas em comum
- [Carcinoma da tireoide não-medular familiar](https://raras.org/doenca/carcinoma-da-tireoide-nao-medular-familiar) — ORPHA:319494 — 19 sintomas em comum
- [Carcinoma papilar ou folicular da tireoide, forma familiar](https://raras.org/doenca/carcinoma-papilar-ou-folicular-da-tireoide-forma-familiar) — ORPHA:319487 — 19 sintomas em comum
- [Câncer medular da tireoide](https://raras.org/doenca/1332) — ORPHA:1332 — 14 sintomas em comum
- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 13 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 12 sintomas em comum
- [Neoplasia endócrina múltipla](https://raras.org/doenca/neoplasia-endocrina-multipla) — ORPHA:276161 — 11 sintomas em comum
- [Carcinoma papilar da tireoide com neoplasia papilar renal](https://raras.org/doenca/carcinoma-papilar-da-tireoide-com-neoplasia-papilar-renal) — ORPHA:97290 — 11 sintomas em comum
- [Hiperparatireoidismo primário familiar](https://raras.org/doenca/hiperparatireoidismo-primario-familiar) — ORPHA:2207 — 10 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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