Results 21 to 30 of about 5,962 (164)

MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B: A CASE REPORT

Alʹmanah Kliničeskoj Mediciny, 2016
This article provides our own clinical observation of the patient with multiple endocrine neoplasia type 2B (MEN2B) associated with a  germinal mutation in the RET proto-oncogene.
E. A. Troshina, N. V. Mazurina, O. V. Logvinova   +2 more
doaj   +1 more source

Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome

Clinics, 2012
OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2.
Nikoletta Lendvai, Miklos Tóth, Zsuzsanna Valkusz, Gabriella Bekő, Nikolette Szücs, Éva Csajbók, Péter Igaz, Balázs Kriszt, Balázs Kovács, Károly Rácz, Attila Patócs   +10 more
doaj   +1 more source

Coexistence of Slipped Capital Femoral Epiphysis and multiple endocrine neoplasia type 2B (MEN2B) - a case report

Journal of Education, Health and Sport, 2023
Introduction: MEN 2B syndrome is distinguished by the occurrence of medullary thyroid cancer, pheochromocytoma, mucosal neuromas, marfanoid features, and skeletal anomalies, including kyphoscoliosis, joint laxity, pes cavus, and, in a smaller number of ...
Kamila Kędra, Maciej Bielak, Izabela Michalik, Julia Zarańska, Arkadiusz Aab, Karolina Bielak   +5 more
doaj   +1 more source

Genotype-phenotype correlation in multiple endocrine neoplasia type 2

Clinics, 2012
Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10.
Friedhelm Raue, Karin Frank-Raue
doaj   +1 more source

A Kindred of Multiple Endocrine Neoplasia Type 2B.

Endocrinologia Japonica, 1992
We describe familial cases of multiple endocrine neoplasia (MEN) 2B: A 48-year-old man is the proband. He had pheochromocytoma, medullary thyroid carcinomas (MTCs), parathyroid hyperplasia, mucosal neuromas, eversion of eyelids and Marfanoid appearance, and then underwent adrenalectomy and total thyroidectomy.
YAMAMOTO, SHIGEKI, MORIMOTO, ISAO, FUJIHIRA, TAKASHI, WATANABE, KENICHI, ZEKI, KAZUYA, YOSHIMOTO, KATSUHIKO, ZEZE, FUJIO, ETO, SUMIYA   +7 more
openaire   +3 more sources

A novel mutation identified in a patient with pheochromocytoma and renal cell carcinoma [PDF]

Kosin Medical Journal, 2018
Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2
Jae Wan Kwon, Eui Dal Jung, Eon Ju Jeon, Jung Kyu Park, Joon Kee Lee, Chang Ho Cho   +5 more
doaj   +1 more source

Cutaneous Neuropathology in Multiple Endocrine Neoplasia, Type 2b

Journal of Investigative Dermatology, 1982
Increase in masses of mixed (myelinated and nonmyelinated) nerve are observed in the dermis of clinically normal skin of patients with multiple endocrine neoplasia, type 2b (MEN 2b). Preliminary histochemical studies revealed nucleoside triphosphatase and nonspecific acid esterase.
Winkelmann, R.K., Carney, J. Aidan
openaire   +2 more sources

Multiple endocrine neoplasia: the Chilean experience

Clinics, 2012
Multiple endocrine neoplasia (MEN) types 1 and 2 are genetic diseases that are inherited as autosomal traits. The major clinical manifestations of multiple endocrine neoplasia type 1 include the so-called "3 P's": parathyroid, pituitary, and pancreatic ...
René E. Diaz, Nelson Wohllk
doaj   +1 more source

Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature

Biomedical Papers, 2022
Background. We describe early and typical nonendocrine symptoms of Multiple Endocrine Neoplasia type 2B (MEN2B) presented in our patients with de novo M918T mutation in the RET proto-oncogene in early childhood, however, the diagnosis of MEN2B and ...
Renata Pomahacova, Petra Paterova, Eva Nykodymova, Eliska Vaclavikova, Pavla Sykorova, Katerina Personova, Ramir Katra, Ivan Subrt, Josef Sykora   +8 more
doaj   +1 more source

Mutational Spectrum of Multiple Endocrine Neoplasia Type 2 and Sporadic Medullary Thyroid Carcinoma in Taiwan

Journal of the Formosan Medical Association, 2009
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant cancer predisposition syndrome, and > 95% of MEN 2 patients carry rearranged during transfection (RET) protooncogene mutants.
Chin-Feng Chang, Wei-Shiung Yang, Yi-Ning Su, I-Ling Wu, Tien-Chun Chang   +4 more
doaj   +1 more source