No abstract

The incidence of thyroid cancers is increasing worldwide. Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer. In our study, we analyzed these genetic alterations in 394 thyroid tissue samples (197 papillary carcinomas and 197 healthy). The somatic mutations and translocations were detected by Light Cycler melting method and Real-Time Polymerase Chain Reaction techniques, respectively. In tumorous samples, 86 BRAF (44.2%), 5 NRAS (3.1%), 2 HRAS (1.0%) and 1 KRAS (0.5%) mutations were found, as well as 9 RET/PTC1 (4.6%) and 1 RET/PTC3 (0.5%) translocations. No genetic alteration was seen in the non tumorous control thyroid tissues. No correlation was detected between the genetic variants and the pathological subtypes of papillary cancer as well as the severity of the disease. Our results are only partly concordant with the data found in the literature.

Carney complex is a rare disease inherited in an autosomal dominant manner. It is mostly caused by inactivating mutations of the subunit of protein kinase A. Carney complex is associated with atrial myxoma, nevi or myxomas of the skin, breast tumor and endocrine overactivity. Primary pigmented nodular adrenocortical disease is the specific endocrine manifestation. The authors present the history of a 53-year-old female patient who had undergone surgery for atrial myxomas, thyroid tumor and breast cancer. She was also operated for an adrenal adenoma causing Cushing’s syndrome. Genetic study revealed a novel mutation in the regulatory subunit of protein kinase A (ivs2-1G>A splice mutation in intron 2). Her heterozygous twins were also genetically screened and one of them carried the same mutation. The authors emphasize that despite the absence of specific treatment for patients with Carney complex, confirmation of the diagnosis by genetic studies is important for the close follow-up of the patient and early identification of novel manifestations.

No abstract

Compared to the available data published in the literature, the success rate of the treatment is fairly high confirming the effectiveness of our protocol.

It is established that numerous somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. In this study 22 intraoperative thyroid tissue samples (11 pathologic and 11 normal) were examined. Somatic single nucleotide polymorphisms were analyzed by LigthCycler melting method, while translocations were identified by real-time polymerase chain reaction technique. In tumorous sample 3 BRAF, 2 NRAS and one HRAS mutations were found, as well as one RET/PTC1 translocation. Results confirm international data showing that these oncogene mutations and translocations are linked to thyroid cancer. Cytological examination completed with genetic data may support the diagnosis of thyroid malignancies. In addition, genetic alterations may indicate malignant transformation and may become prognostic factors in future.

1958-ban Verner ésMorrison írta le az elnevezésében a vizes hasmenésre, hypokalaemiára és achlorhydriára utaló szindrómát (watery diarrhea, hypokalaemia, achlorhydria -WDHA). A nagy mennyiségű vazoaktív intestinalis peptidet (VIP) termelő VIPomák rendszerint a hasnyálmirigyből származnak. A tipikus tünetek fontos szerepet játszanak a VIPoma diagnózisában. A hasmenés a diagnózis felismerése előtt évekig perzisztálhat. A kezeletlen WDHA-szindróma a hosszabb ideig fennálló exsiccosis, illetve az elektrolit-és sav-bázis háztartás zavara miatt krónikus veseelégtelenséghez vezethet, ami a betegség lefolyását súlyosbíthatja. Specifi kus marker (VIP) meghatározása érzékeny módszer a kórisme felállításához. A felismerésben segítséget nyújt az endoszkópos ultrahang, komputertomográfi a, mágneses rezonancia és főleg a szomatosztatinanalógokkal végzett szcintigráfi ás vizsgálat. A kezelési lehető-ségek közé tartozik a daganat reszekciója, a kemoterápia és a tünetek csökkentése érdekében a szomatosztatinanalógok alkalmazása. A korai diagnózis és kezelés kedvezően hathat a betegek életben maradására. A VIPomák társulhatnak az 1-es típusú multiplex endokrin neoplasia (MEN-1) szindrómához.Kulcsszavak: vazoaktív intestinalis peptid, VIPoma, multiplex endokrin neoplasia, hasmenés, elektrolit-és sav-bázis háztartás zavara Verner-Morrison syndrome: a case studyVerner and Morrison described a syndrome of watery diarrhea, hypokalemia, and achlorhydria (WDHA) in 1958. VIPomas producing high amounts of vasoactive intestinal peptide (VIP) commonly originate from the pancreas. Typical symptoms play a momentous role in the diagnosis of VIPoma. Diarrhea may persist for years before the diagnosis. Morbidity from untreated WDHA syndrome is associated with long-standing dehydration and with electrolyte and acid-base metabolism disorders, which may cause chronic renal failure. Assessment of specifi c marker (VIP) offers high sensitivity in establishing the diagnosis. Imaging modalities include endoscopic ultrasonography, computed tomography and magnetic resonance imaging, and particularly, scintigraphy with somatostatin analogues. Treatment options include resection of the tumor, chemotherapy or the reduction of symptoms with somatostatin analogues. Early diagnosis and management may affect survival of patients favorably. VIPoma cases may be associated with multiple endocrine neoplasia type 1.Keywords: vasoactive intestinal peptide, VIPoma, multiple endocrine neoplasia, diarrhea, electrolyte and acid-base metabolism disorders (Beérkezett: 2010. március 18.; elfogadva: 2010. április 12.) Rövidítések CT = komputertomográfi a; DNS = dezoxiribonukleinsav; MEN-1 = 1-es típusú multiplex endokrin neoplasia; MRI = mágneses rezonancia; MRSA = methicillin/oxacillin rezisztens Staphylococcus aureus; PCR = polimeráz láncreakció; PET = pozitronemissziós tomográfi a; SS = szomatosztatin; SSTR-2 = szomatosztatinreceptor-2; VIP = vazoaktív intestinalis peptid; WDHA = watery diarrhea, hypokalaemia, achlorhydria Verner és Morrsion írta le 1958-ban először a ...

Carney complex is a rare disease inherited in an autosomal dominant manner. It is mostly caused by inactivating mutations of the subunit of protein kinase A. Carney complex is associated with atrial myxoma, nevi or myxomas of the skin, breast tumors and endocrine overactivity. Primary pigmented nodular adrenocortical disease is the specific endocrine manifestation. The authors present the history of a 53-year-old female patient who had undergone surgery for atrial myxomas, thyroid tumor and breast cancer. She was also operated for an adrenal adenoma causing Cushing's syndrome. Genetic study revealed a mutation in the regulatory subunit of protein kinase A (ivs2-1G>A splice mutation in intron 2). Her heterozygous twins were also genetically screened and one of them carried the same mutation. The authors emphasize that despite the absence of specific treatment for patients with Carney complex, confirmation of the diagnosis by genetic studies is important for the close follow-up of the patient and early identification of novel manifestations.