Papillary thyroid cancer braf mutation

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Abstract Aim: to describe two cases of familial papillary thyroid carcinoma. Material and methods: patients were investigated by fine needle biopsy, MRI imaging and tumor biopsy, first case and histological examination of colonic and thyroid tumors first case and histological examination of thyroid tumor second case.

Results and discussion: case presentation: first case, 68 years old man had a colonic polyposis attenuated form with only a few polyps and a thyroid nodule. After hemicolectomy for a supposed colonic carcinoma with liver and lung metastases, histological examination revealed no malignant colonic disease.

În cazul carcinoamelor bine diferenţiate cu diametrul mai mic de 1 cm, se practică lobectomie. În toate celelalte cazuri de cancer tiroidian se va practica tiroidectomie totală sau subtotală. La pacienţii la care nu s-a stabilit un diagnostic definitiv preoperator, leziunea suspectată este excizată cu limite largi, iar după diagnosticul histopatologic de malignitate, se reintervine pentru totalizare.

Two month later the diagnosis of invasive thyroid tumor with lymph node metastases was made, but only an open biopsy was done because tumor invasiveness demonstrated on Papillary thyroid cancer braf mutation imaging. The biopsy identified a papillary thyroid carcinoma.

Case 2: the son of the patient 30 years old without known diseases was invited to be assessed for thyroid disease. Ultrasound examination discovered a large nodule with microcalcifications. Microscopic examination done after total thyroidectomy revealed a cribriform morular variant of papillary thyroid carcinoma, a variant that is known to be associated with FAP.

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Radioiodine ablation was made followed by suppressive thyroxine treatment. In the second case adenomatous polyposis was not found yet.

Management and Follow-up of High Risk Patients with Papillary Thyroid Cancer

In papillary thyroid cancer braf mutation knowledge these are the first cases of familial thyroid papillary carcinomas in our setting. Familial history allowed an earlier diagnosis and a good papillary thyroid cancer braf mutation of the disease in the second case. Conclusions: according to the literature and our first experience, screening for thyroid cancer must be done in all patients with FAP and in those with a FAP proband in the family.

Nosé V. Endocr Pathol. Modern Pathology ; SS Cavaco BM.

Această cale de transducţie a semnalului este activată constitutiv în numeroase tipuri de tumori maligne umane de obicei ca urmare a unor mutaţii ale oncogenelor KRAS şi  BRAF1;2;3. Mutaţiile genei BRAF pot fi de două tipuri: moştenite ale liniei germinale — asociate cu sindromul cardiofaciocutanat — condiţie genetică rară caracterizată prin defecte cardiace, retard mental şi un aspect facial distinctiv; dobândite somatice — asociate cu forme diferite de cancer limfom non-Hodgkin, cancer colorectal, melanom malign, cancer tiroidian papilar, cancer pulmonar altul decât cel cu celule mici —NSCLC, cancer ovarian 4;5. Până în prezent au fost identificate peste 50 mutaţii distincte ale genei BRAF multe dintre acestea fiind responsabile de creşterea activităţii BRAF de 1. Consecinţa acestei mutaţii punctiforme missens este că situsul de activare al protein-kinazei devine expus în mod normal fiind ascuns într-o pungă hidrofobăceea ce conduce  la o activare constitutivă BRAF. Astfel, celulele maligne care prezintă mutaţia VE proliferează papillary thyroid cancer braf mutation mod independent de factorul de creştere2.

Endocrine-Related Cancer ; Richards ML. Thyroid ; Nilbert M, Kristoffersson U, Ericsson M, et al: Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age BMC Med Genet.

Dacă se alege chirurgia pentru un nodul cu dimensiuni sub 10 mm fără extensie extratirodiană, procedura chirurgicală ar trebui să fie lobectomia în lipsa indicației pentru tiroidectomie totală. Lobectomia singură este un tratament eficient pentru nodulii mici, izolați, în cazul în care pacientul nu a fost supus anterior iradierii gâtului și nu are istoric familial de cancer tiroidian sau metastaze cervicale detectabile.

Orphanet J Rare Dis ; 7. Histopathology ; Asian J Surg.

FAMILIAL SYNDROMIC PAPILLARY THYROID CARCINOMA - REPORT OF TWO CASES

Clin Gastroenterol Hepatol. Clin Colorectal Cancer ; 11 4 : Head Neck ; Ann Surg. Kameyama K, Takami H. Fam Cancer. Lee S, Hong SW, Shin SJ,et al: Papillary thyroid carcinoma associated with familial adenomatous polyposis: molecular analysis of pathogenesis in a family and review of the literature. Endocr J.

Am J Otolaryngol. Cetta F. Acta Cytol.

Kurihara K, Shimizu S, Chong J, et al: Nuclear localization of immunoreactive beta-catenin is specific to familial adenomatous polyposis in papillary thyroid carcinoma. Jpn J Cancer Res.

Autentificare

Ito Y, Miyauchi A, Ishikawa H, et al: Our experience of treatment of cribriform morular variant of papillary thyroid carcinoma; difference in clinicopathological features of FAP-associated and sporadic papillary thyroid cancer braf mutation. Mc Donald TJ.

Journal of Oncology. Nasr MR. Modern Pathology. Capezzone M.

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