Mutaţia BRAF V600E în tumori


Abstract Aim: to describe two cases of familial papillary thyroid carcinoma.

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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 hpv in mouth and throat 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.

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 — papillary thyroid cancer with braf mutation 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.

After hemicolectomy for a supposed colonic carcinoma with liver and lung metastases, histological examination revealed no malignant colonic disease. 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 MTI imaging.

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The papillary thyroid cancer with braf mutation identified a papillary thyroid carcinoma. Case 2: papillary thyroid cancer with braf mutation son of the patient 30 years old without known diseases was invited to be assessed for thyroid disease.

  • 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.
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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.

papillary thyroid cancer with braf mutation papillary thyroid cancer familial

Radioiodine ablation was made followed by suppressive thyroxine treatment. In the second case adenomatous polyposis was not found yet. In our knowledge these are the first cases of familial thyroid papillary carcinomas in our setting. Familial history allowed an earlier diagnosis and a good management 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.

Cauze și factori de risc

Nosé V. Endocr Pathol. Modern Pathology ; SS Cavaco BM. 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 papillary thyroid cancer with braf mutation the first manifestation at age BMC Med Genet.

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

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Clin Gastroenterol Hepatol. Clin Colorectal Cancer ; 11 4 : Head Neck ; Ann Surg. Kameyama K, Takami H.

papillary thyroid cancer with braf mutation abdominal cancer survival rates

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.

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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. 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 patients.

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papillary thyroid cancer with braf mutation