Multiple endocrine neoplasia type 1

Acromegaly occurs rarely as part of a genetic disorder, including: multiple endocrine neoplasia type 1 (MEN 1).

MEN1 was originally known as Wermer syndrome. The most common tumors seen in MEN1 involve the parathyroid gland, islet cells of the pancreas, and pituitary gland. Other endocrine tumors seen in MEN1 include adrenal cortical tumors, neuroendocrine tumors (previously called carcinoid tumors), and rare pheochromocytomas, as well as tumors in other parts of the digestive tract.

MEN1 is rare, occurring in about one in 30,000 people

About 90% of these patients carry mutations in the MEN1 gene.

Shirali AS, Pieterman CRC, Lewis MA, Hyde SM, Makawita S, Dasari A, Thosani N, Ikoma N, McCutcheon IE, Waguespack SG, Perrier ND. It's not a mystery, it's in the history: Multidisciplinary management of multiple endocrine neoplasia type 1. CA Cancer J Clin. 2021 Jun 1. doi: 10.3322/caac.21673. Epub ahead of print. PMID: 34061974.

The spectrum is not well defined in India. Forty clinically suspected cases of MEN1 were enrolled prospectively over six years; 32 patients (23 index-cases and nine affected relatives) with≥2 classical endocrine tumours of MEN1 were considered definite, and eight were categorized as 'MEN1-like'. Details of their clinical presentation, treatment and mutational analysis including MEN1 gene, 3' and 5' untranslated regions (UTR) of MEN1, CDKN1B, and CaSR genes were collated. Asymptomatic first-degree relatives were also screened. Among the 32 definite MEN1 patients, all had primary hyperparathyroidism, 22 (68.7%) had gastroenteropancreatic neuroendocrine tumors, and 21 (66%) had pituitary neuroendocrine tumor. Of the 23 definite index-cases, 13 (56.5%) carried mutations in the MEN1 gene. Five of nine affected first-degree relatives (55.5%), and four of 10 asymptomatic relatives (40%) also had MEN1 mutations. Seven of 10 MEN1 mutation-negative definite index-cases harbored p.V109G polymorphism in the CDKN1B gene. All eight MEN1-like cases were negative for mutations and large deletions in MEN1, mutations in 3' and 5' UTR of MEN1, CaSR, and CDKN1B genes. The study has helped to clearly document the pattern of mutations among Indian MEN1 patients. However, the absence of MEN1 mutation in ~44% of cases and the presence of p.V109G polymorphism in the CDKN1B gene raise the question of whether such polymorphisms could independently contribute to pathogenesis 1).

Growth hormone secreting pituitary tumor or gigantism has not been previously reported to be associated with rapid progression of scoliosis in the literature. However, there are some reports indicating scoliosis can be worsened by growth hormone therapy in children and adolescents. A 19-year-old boy was referred to our institution for the treatment of a right thoracolumbar scoliosis. The Cobb angle had worsened from 29° to 83° over two years' duration. He attained puberty at the age of 13. He had a previous history of slipped upper femoral epiphysis (SUFE), which was operated in 2015, with no clinical features of gigantism. Preoperative assessment was performed. He was diagnosed with growth hormone secreting pituitary macroadenoma by magnetic resonance imaging with a high serum level of insulin-like growth factor-I (IGF-I). Computed tomography (CT) of the pancreas showed a pancreatic endocrine tumor. The patient was later diagnosed with multiple endocrine neoplasia type 1 (MEN 1). He underwent endoscopic endonasal excision of the pituitary mass and distal pancreatectomy. This case indicates that growth hormone secreting pituitary macroadenoma could result in rapid progression of scoliosis 2)

Shyamasunder AH, Pai R, Ramamoorthy H, Sakhti D, Manipadam MT, Kapoor N, Paul TV, Jebasingh F, Thomas N, Abraham DT, Paul MJ, Chacko AG, Prabhu K, Rajaratnam S. Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study. Horm Metab Res. 2021 Apr;53(4):245-256. doi: 10.1055/a-1402-0183. Epub 2021 Apr 14. PMID: 33853118.
Chung WH, Chiu CK, Wei Chan CY, Kwan MK. Rapid progression of scoliosis curve in a mature patient with undiagnosed pituitary macroadenoma: A rare case report. Acta Orthop Traumatol Turc. 2020 Sep;54(5):561-564. doi: 10.5152/j.aott.2020.19144. PMID: 33155569; PMCID: PMC7646617.
  • multiple_endocrine_neoplasia_type_1.txt
  • Last modified: 2023/04/14 00:44
  • by administrador