# Carcinoma da tireoide raro

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

## Identificadores

- **ORPHA**: 100088 — https://www.orpha.net/en/disease/detail/100088
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Carcinoma originado da glândula tireóide. Geralmente é um adenocarcinoma e inclui os seguintes subtipos principais: folicular, papilar, medular, pouco diferenciado e anaplásico.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (111 fenótipos HPO)

- **Dor torácica** — HPO: HP:0100749
- **Dor óssea** — HPO: HP:0002653
- **Carcinoma anaplásico de tireoide** — HPO: HP:0011779
- **Hiperidrose** — HPO: HP:0000975
- **Pé cavo** — HPO: HP:0001761
- **Morfologia anormal do músculo esquelético** — HPO: HP:0011805
- **Norepinefrina urinária elevada** — HPO: HP:0003345
- **Hipermobilidade articular** — HPO: HP:0001382
- **Câncer de cólon** — HPO: HP:0003003
- **Obstrução das vias aéreas superiores** — HPO: HP:0002781
- **Feocromocitoma** — HPO: HP:0002666
- **Tosse** — HPO: HP:0012735
- **Sobrancelha espessa** — HPO: HP:0000574
- **Escoliose** — HPO: HP:0002650
- **Neoplasia do fígado** — HPO: HP:0002896
- **Oncocytoma renal** — HPO: HP:0011798
- **Hipotonia** — HPO: HP:0001252
- **Fístula traqueoesofágica** — HPO: HP:0002575
- **Câncer de próstata** — HPO: HP:0012125
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Dopamina urinária elevada** — HPO: HP:0011979
- **Hiperparatireoidismo primário** — HPO: HP:0008200
- **Paralisia das cordas vocais** — HPO: HP:0001605
- **Epinefrina urinária elevada** — HPO: HP:0003639
- **Nefrolitíase** — HPO: HP:0000787
- **Voz rouca** — HPO: HP:0001609
- **Anormalidade do vaso sanguíneo do pescoço** — HPO: HP:3000037
- **Neoplasia cervical** — HPO: HP:0032241
- **Diarreia** — HPO: HP:0002014
- **Hiperlordose** — HPO: HP:0003307
- **Palpitações** — HPO: HP:0001962
- **Hiperplasia de paratireoide** — HPO: HP:0008208
- **Neoplasia do sistema esquelético** — HPO: HP:0010622
- **Ansiedade** — HPO: HP:0000739
- **Carcinoma papilífero de tireoide** — HPO: HP:0002895
- **Borda do vermelhão espessa** — HPO: HP:0012471
- **Nódulo tireoidiano** — HPO: HP:0025388
- **Ácido vanilmandélico urinário elevado** — HPO: HP:0011978
- **Catecolaminas urinárias elevadas** — HPO: HP:0011976
- **Neoplasia ovariana** — HPO: HP:0100615
- _...e mais 71 sintomas. Ver https://raras.org/doenca/carcinoma-da-tireoide-raro._

## Genes associados (33)

- **LPAR4** — Lysophosphatidic acid receptor 4 [Candidate gene tested 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
- **MINPP1** — Multiple inositol polyphosphate phosphatase 1 [Candidate gene tested in]
  - Função: Multiple inositol polyphosphate phosphatase that hydrolyzes 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inos
- **NDUFA13** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 [Candidate gene tested 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
- **TPR** — Nucleoprotein TPR [Candidate gene tested 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
- **ESR2** — Estrogen receptor beta [Candidate gene tested in]
  - Função: Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-depen
- **NRAS** — GTPase NRas [Disease-causing germline mutation(s) in]
  - Função: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity
- **GAS8-AS1** — Uncharacterized protein GAS8-AS1 [Candidate gene tested in]
- **PAX8** — Paired box protein Pax-8 [Candidate gene tested 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
- **BRAF** — Serine/threonine-protein kinase B-raf [Candidate gene tested in]
  - Função: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathw
- **NKX2-1** — Homeobox protein Nkx-2.1 [Candidate gene tested 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
- **NTRK3** — NT-3 growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways,
- **HABP2** — Factor VII-activating protease [Candidate gene tested in]
  - Função: Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and do
- **EIF1AX** — Eukaryotic translation initiation factor 1A, X-chromosomal [Candidate gene tested 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
- **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
- **NTRK1** — High affinity nerve growth factor receptor [Candidate gene tested 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

## Ensaios clínicos ativos (5)

- **NCT02867592** [ACTIVE_NOT_RECRUITING]: Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors — https://clinicaltrials.gov/study/NCT02867592
- **NCT02834013** [ACTIVE_NOT_RECRUITING]: Nivolumab and Ipilimumab in Treating Patients With Rare Tumors — https://clinicaltrials.gov/study/NCT02834013
- **NCT07440290** [NOT_YET_RECRUITING]: DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers. — https://clinicaltrials.gov/study/NCT07440290
- **NCT05768178** [RECRUITING]: DETERMINE Trial Treatment Arm 05: Vemurafenib in Combination With Cobimetinib in Adult Patients With BRAF Positive Cancers. — https://clinicaltrials.gov/study/NCT05768178
- **NCT06790706** [RECRUITING]: IMMUNORARE5: A National Platform of 5 Academic Phase II Trials Coordinated by Lyon University Hospital to Assess the Safety and the Efficacy of the IMMUNOtherapy With Domvanalimab + Zimberelimab Combination in Patients With Advanced RARE Cancers — https://clinicaltrials.gov/study/NCT06790706

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor tireoidiano raro](https://raras.org/doenca/tumor-tireoidiano-raro) — ORPHA:100087 — 111 sintomas em comum
- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 75 sintomas em comum
- [Neoplasia endócrina múltipla](https://raras.org/doenca/neoplasia-endocrina-multipla) — ORPHA:276161 — 73 sintomas em comum
- [Neoplasias endócrinas múltiplas tipo 2](https://raras.org/doenca/neoplasias-endocrinas-multiplas-tipo-2) — ORPHA:653 — 71 sintomas em comum
- [Carcinoma da tireoide diferenciado](https://raras.org/doenca/carcinoma-da-tireoide-diferenciado) — ORPHA:146 — 32 sintomas em comum
- [Neoplasia endócrina múltipla, tipo 2B](https://raras.org/doenca/neoplasia-endocrina-multipla-tipo-2b) — ORPHA:247709 — 29 sintomas em comum
- [Hiperparatireoidismo genético](https://raras.org/doenca/hiperparatireoidismo-genetico) — ORPHA:208596 — 27 sintomas em comum
- [Hiperparatireoidismo primário familiar](https://raras.org/doenca/hiperparatireoidismo-primario-familiar) — ORPHA:2207 — 26 sintomas em comum
- [Câncer anaplásico da tireoide](https://raras.org/doenca/142) — ORPHA:142 — 23 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 22 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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**Citação sugerida**: Raras.org — Carcinoma da tireoide raro. Disponível em: https://raras.org/doenca/carcinoma-da-tireoide-raro
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