Multipla hormonella tumörer typ 2b
Liksom MEN typ 2a orsakas 2b av mutationer i MEN2-genen, även kallad RET-protoonkogenen. Till de kliniska symtomen hör medullärt karcinom i sköldkörteln och feokromocytom i binjuremärgen (50%). Till skillnad från MEN2a ingår inte bisköldkörteltumörer i MEN2b. Typ 2b kan skiljas från 2a genom onormal nervvävnad, som t ex neurom på ögonlock, läppar och tunga, samt ganglioneuromatos i mag-tarmkanalen som leder till megakolon. Det är en autosomalt dominant, ärftlig sjukdom.
Förklaring på engelska
Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.
Synonym, svenska: Multipel endokrin neoplasi typ 2b
Synonym, engelska: MEN2b; Multiple Endocrine Neoplasms Type 2b; Neoplasia, Multiple Endocrine Type 2b; Neoplasms, Multiple Endocrine Type 2b; Neuromata, Mucosal, With Endocrine Tumors; Wagenmann-Froboese Syndrome; Syndrome, Wagenmann-Froboese; Wagenmann Froboese Syndrome; Multiple Endocrine Neoplasia, Type IIb; MEA 2b; MEA IIb; MEN 2b; MEN 3; MEN IIb; MEN III; Mucosal Neuroma Syndrome; Mucosal Neuroma Syndromes; Neuroma Syndrome, Mucosal; Multiple Endocrine Neoplasia, Type 2b
| Svensk term | Multipla hormonella tumörer typ 2b |
| Synonym på svenska | Multipel endokrin neoplasi typ 2b |
| Synonym på engelska | MEN2b; Multiple Endocrine Neoplasms Type 2b; Neoplasia, Multiple Endocrine Type 2b; Neoplasms, Multiple Endocrine Type 2b; Neuromata, Mucosal, With Endocrine Tumors; Wagenmann-Froboese Syndrome; Syndrome, Wagenmann-Froboese; Wagenmann Froboese Syndrome; Multiple Endocrine Neoplasia, Type IIb; MEA 2b; MEA IIb; MEN 2b; MEN 3; MEN IIb; MEN III; Mucosal Neuroma Syndrome; Mucosal Neuroma Syndromes; Neuroma Syndrome, Mucosal; Multiple Endocrine Neoplasia, Type 2b |
| Engelsk term | Multiple Endocrine Neoplasia Type 2b |
| MESH ID | D018814 |