PMID- 26905068
OWN - NLM
STAT- MEDLINE
DCOM- 20170925
LR  - 20181113
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Linking)
VI  - 15
IP  - 4
DP  - 2016 Oct
TI  - Multiple endocrine neoplasia type 1 syndrome: single centre experience from 
      western India.
PG  - 617-24
LID - 10.1007/s10689-016-9891-7 [doi]
AB  - Multiple endocrine neoplasia type 1 syndrome (MEN1) is a rare autosomal dominant 
      familial cancer syndrome affecting multiple endocrine glands. Published 
      literature on MEN1 from Indian subcontinent is scarce. We report here a case 
      series of MEN1 patients (n = 18) from 14 unrelated families. Retrospective study 
      describing the clinical profile of MEN1 patients from endocrine unit of a 
      tertiary care hospital from western India. Additionally clinical profile of 
      primary hyperparathyroidism (PHPT) in MEN1 patients was compared with that of 
      apparently sporadic PHPT cohort from our centre. Eighteen patients (10 males, 8 
      females) diagnosed as MEN1 were included. Mean age at diagnosis was 
      31.5 +/- 10.6 years (range 17-54). Incidence of primary hyperparathyroidism (PHPT), 
      pituitary adenoma (PA), and gastro-entero-pancreatic neuroendocrine tumor 
      (GEP-NET) was 94.4, 72.2, and 72.2 %, respectively. GEP-NET was the commonest 
      presenting lesion (33.3 %), followed by PA (27.7 %), PHPT (16.6 %), thymic 
      carcinoid (5.5 %), while 16.6 % cases were identified on family screening. PHPT 
      manifestations (clinical and biochemical) in MEN1 were less severe as compared to 
      those of sporadic PHPT. Contrast enhanced computed tomography (CECT) and 
      (68)Ga-DOTANOC PET/CT were equally sensitive (64.7 vs. 63.5 %) in identifying 
      multiglandular parathyroid disease. Non functioning tumors (NFT) were the most 
      common GEP-NET, followed by insulinoma (5/13, two were metastatic). 
      (68)Ga-DOTANOC PET/CT had higher sensitivity in detecting GEP-NET lesions than 
      CECT (100 vs. 62.5 %). The most common pituitary lesion was prolactinoma, and all 
      were cabergoline responsive. Genetic analysis was available in 13 patients and 11 
      patients showed mutation in MEN1 gene. The clinical profile of MEN1 in Asian 
      Indian patients is largely comparable to that reported in other cohorts. Peculiar 
      findings of our cohort are predominance of GEP-NET as a presenting manifestation 
      and relatively higher prevalence of insulinoma with higher occurrence of 
      metastatic insulinoma. Clinical and biochemical profile of MEN1 associated PHPT 
      is less severe than that of our sporadic PHPT.
FAU - Goroshi, Manjunath
AU  - Goroshi M
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India. manjunath.r.goroshi@gmail.com.
FAU - Bandgar, Tushar
AU  - Bandgar T
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India.
FAU - Lila, Anurag R
AU  - Lila AR
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India.
FAU - Jadhav, Swati Sachin
AU  - Jadhav SS
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India.
FAU - Khare, Shruti
AU  - Khare S
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India.
FAU - Shrikhande, Shailesh V
AU  - Shrikhande SV
AD  - GI and HPB Surgery, Department of Surgical Oncology, TATA Memorial Hospital, 
      Mumbai, India.
FAU - Uchino, Shinya
AU  - Uchino S
AD  - Surgical Department, Noguchi Thyroid Clinic and Hospital Foundation, 7-52 Aoyama, 
      Beppu, Oita, 874-0902, Japan.
FAU - Dalvi, Abhay N
AU  - Dalvi AN
AD  - Department of Surgery, Seth G S Medical College, Mumbai, India.
FAU - Shah, Nalini S
AU  - Shah NS
AD  - Department of Endocrinology, Seth G S Medical College, KEM Hospital, Parel, 
      Mumbai, 400012, India.
LA  - eng
PT  - Journal Article
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Female
MH  - Humans
MH  - Hyperparathyroidism, Primary/etiology
MH  - India
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnostic imaging/genetics/*pathology
MH  - Neuroendocrine Tumors/diagnostic imaging/pathology
MH  - Positron Emission Tomography Computed Tomography
MH  - Proto-Oncogene Proteins/genetics
MH  - Young Adult
OTO - NOTNLM
OT  - MEN1 syndrome
OT  - NET
OT  - Pituitary adenoma
OT  - Primary hyperparathyroidism
EDAT- 2016/02/26 06:00
MHDA- 2017/09/26 06:00
CRDT- 2016/02/25 06:00
PHST- 2016/02/25 06:00 [entrez]
PHST- 2016/02/26 06:00 [pubmed]
PHST- 2017/09/26 06:00 [medline]
AID - 10.1007/s10689-016-9891-7 [pii]
AID - 10.1007/s10689-016-9891-7 [doi]
PST - ppublish
SO  - Fam Cancer. 2016 Oct;15(4):617-24. doi: 10.1007/s10689-016-9891-7.