📂 Diseases
familial medullary thyroid carcinoma — Definition
Ailesel medüller tiroid karsinomu / familial medullary thyroid carcinoma
Familyized medullar thyroid carcinoma is a type of hereditary cancer, resulting from C cells of the thyroid gland (parafollicular cells). This disease occurs as a result of germline mutations in the RET proto-onxogen and shows autozomal dominant pass. Clinically, it is often seen as part of the multipl endocrine neplasia type 2 (MEN2) syndrome, and can metastasis to lymph nodes and remote organs if it is not diagnosed early. Total thyroidectomy and lymph nodes are applied in the treatment, as well as genetic screening is recommended in family individuals.
Disease Definition
🔬 Disease Definition
Familial medüller tiroid karsinomu (FMTC), tiroid bezinin parafoliküler C hücrelerinden kaynaklanan, otozomal dominant geçişli kalıtsal bir kanser türüdür. MEN2 sendromunun bir varyantı olup, genellikle izole tiroid tutulumu ile karakterizedir.
🧬 Causes & Risk Factors
RET proto-onkogenindeki germline mutasyonları (özellikle ekzon 10, 11, 13-16) hastalığın temel nedenidir. Ailevi geçiş gösterir.
🩺 Symptoms & Signs
Boyunda ele gelen kitle, ses kısıklığı, yutma güçlüğü, boyun ağrısı, lenf nodu metastazına bağlı şişlikler. Bazı hastalar asemptomatik olabilir.
📋 Diagnostic Methods
Serum kalsitonin ve karsinoembriyonik antijen (CEA) düzeyleri, tiroid ultrasonografisi, ince iğne aspirasyon biyopsisi, RET mutasyon analizi (genetik test).
💊 Treatment Options
Total tiroidektomi ve santral lenf nodu diseksiyonu. Metastaz varlığında eksternal radyoterapi, tirozin kinaz inhibitörleri (vandetanib, cabozantinib) ve kemoterapi.
⚠️ Complications
Lokal nüks, lenf nodu ve uzak metastazlar (karaciğer, akciğer, kemik), hipoparatiroidi, rekürren laringeal sinir hasarı.
Frequently Asked Questions
❓ What is Ailesel medüller tiroid karsinomu?
Ailesel medüller tiroid karsinomu; familyized medullar thyroid carcinoma is a type of hereditary cancer, resulting from C cells of the thyroid gland (parafollicular cells). This disease occurs as a result of germline mutations in the RET proto-onxogen and shows autozomal dominant pass. Clinically, it is often seen as part of the multipl endocrine neplasia type 2 (MEN2) syndrome, and can metastasis to lymph nodes and remote organs if it is not diagnosed early. Total thyroidectomy and lymph nodes are applied in the treatment, as well as genetic screening is recommended in family individuals.
❓ What is familial medullary thyroid carcinoma in Turkish?
The Turkish equivalent of "familial medullary thyroid carcinoma" is Ailesel medüller tiroid karsinomu.
❓ Which medical field is Ailesel medüller tiroid karsinomu related to?
This term belongs to the Diseases category.