Multipla hormonella tumörer typ 2a
En form av multipla endokrina tumörer som kännetecknas av närvaro av medullärt karcinom i sköldkörteln, ofta med samtidigt feokromocytom, vilka respektive producerar kalcitonin och adrenalin. Mer sällan kan den uppträda med hyperplasi eller adenom i bisköldkörtlarna. Sjukdomen beror på utökad funktion hos MEN2-genen på kromosom 10, plats 10q11.2, även känd som RET-protogenen som kodar för receptorprotein-tyrosinkinas. Det är en autosomalt dominant, ärftlig sjukdom.
Förklaring på engelska
A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
Synonym, svenska: Multipel endokrin neoplasi typ 2a
Synonym, engelska: MEA II; MEA IIa; MEN 2; MEN 2a; MEN II; MEN IIa; MEN-2A Syndrome; MEN 2A Syndrome; MEN-2A Syndromes; MEN2a; Multiple Endocrine Neoplasia Type 2; Multiple Endocrine Neoplasms Type 2a; Neoplasia, Multiple Endocrine Type 2a; Neoplasms, Multiple Endocrine Type 2a; Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma; Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma; Sipple Syndrome; Multiple Endocrine Neoplasia, Type IIa; MEA 2a
| Svensk term | Multipla hormonella tumörer typ 2a |
| Synonym på svenska | Multipel endokrin neoplasi typ 2a |
| Synonym på engelska | MEA II; MEA IIa; MEN 2; MEN 2a; MEN II; MEN IIa; MEN-2A Syndrome; MEN 2A Syndrome; MEN-2A Syndromes; MEN2a; Multiple Endocrine Neoplasia Type 2; Multiple Endocrine Neoplasms Type 2a; Neoplasia, Multiple Endocrine Type 2a; Neoplasms, Multiple Endocrine Type 2a; Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma; Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma; Sipple Syndrome; Multiple Endocrine Neoplasia, Type IIa; MEA 2a |
| Engelsk term | Multiple Endocrine Neoplasia Type 2a |
| MESH ID | D018813 |