PMID- 33853118
OWN - NLM
STAT- MEDLINE
DCOM- 20211213
LR  - 20211214
IS  - 1439-4286 (Electronic)
IS  - 0018-5043 (Linking)
VI  - 53
IP  - 4
DP  - 2021 Apr
TI  - Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 
      (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective 
      Study.
PG  - 245-256
LID - 10.1055/a-1402-0183 [doi]
AB  - Multiple Endocrine Neoplasia type-1 (MEN1) is an autosomal dominant disorder with 
      a combined occurrence of tumours of parathyroid glands, pancreatic islets, and 
      anterior pituitary. About 90% of these patients carry mutations in the MEN1 gene, 
      though 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 categorised 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 
      gastroentero-pancreatic neuroendocrine tumours, and 21 (66%) had pituitary 
      adenoma. 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 harboured 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 CDKN1B gene raise the question whether such 
      polymorphisms could independently contribute to pathogenesis.
CI  - Thieme. All rights reserved.
FAU - Shyamasunder, Asha Hesarghatta
AU  - Shyamasunder AH
AUID- ORCID: 0000-0002-9082-2387
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
FAU - Pai, Rekha
AU  - Pai R
AUID- ORCID: 0000-0002-7964-417X
AD  - Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
FAU - Ramamoorthy, Hemalatha
AU  - Ramamoorthy H
AD  - Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
FAU - Sakhti, Dhananjayan
AU  - Sakhti D
AD  - Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
FAU - Manipadam, Marie Therese
AU  - Manipadam MT
AD  - Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India.
FAU - Kapoor, Nitin
AU  - Kapoor N
AUID- ORCID: 0000-0002-9520-2072
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
FAU - Paul, Thomas Vizhalil
AU  - Paul TV
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
FAU - Jebasingh, Felix
AU  - Jebasingh F
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
FAU - Thomas, Nihal
AU  - Thomas N
AUID- ORCID: 0000-0002-4614-9519
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
FAU - Abraham, Deepak Thomas
AU  - Abraham DT
AD  - Department of Endocrine Surgery, Christian Medical College, Vellore, Tamil Nadu, 
      India.
FAU - Paul, Mazhuvanchary Jacob
AU  - Paul MJ
AD  - Department of Endocrine Surgery, Christian Medical College, Vellore, Tamil Nadu, 
      India.
FAU - Chacko, Ari George
AU  - Chacko AG
AD  - Department of Neurosurgery, Christian Medical College, Vellore, Tamil Nadu, 
      India.
FAU - Prabhu, Krishna
AU  - Prabhu K
AD  - Department of Neurosurgery, Christian Medical College, Vellore, Tamil Nadu, 
      India.
FAU - Rajaratnam, Simon
AU  - Rajaratnam S
AD  - Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, 
      Vellore, Tamil Nadu, India.
LA  - eng
GR  - Indian Council of Medical Research/54/28/2012-HUM-BMS/
PT  - Journal Article
DEP - 20210414
PL  - Germany
TA  - Horm Metab Res
JT  - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et 
      metabolisme
JID - 0177722
RN  - 0 (CASR protein, human)
RN  - 0 (CDKN1B protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Untranslated Regions)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Cyclin-Dependent Kinase Inhibitor p27/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - India
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/metabolism
MH  - *Mutation
MH  - Pedigree
MH  - Prospective Studies
MH  - Proto-Oncogene Proteins/*genetics/metabolism
MH  - Receptors, Calcium-Sensing/genetics
MH  - Untranslated Regions
MH  - Young Adult
COIS- The authors declare that they have no conflict of interest.
EDAT- 2021/04/15 06:00
MHDA- 2021/12/15 06:00
CRDT- 2021/04/14 20:17
PHST- 2021/04/14 20:17 [entrez]
PHST- 2021/04/15 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
AID - 10.1055/a-1402-0183 [doi]
PST - ppublish
SO  - Horm Metab Res. 2021 Apr;53(4):245-256. doi: 10.1055/a-1402-0183. Epub 2021 Apr 
      14.