PMID- 32190804
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 2472-1972 (Electronic)
IS  - 2472-1972 (Linking)
VI  - 4
IP  - 4
DP  - 2020 Apr 1
TI  - Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET 
      and MEN1 Germline Mutations.
PG  - bvaa020
LID - 10.1210/jendso/bvaa020 [doi]
LID - bvaa020
AB  - The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) 
      is a rare occurrence and has been reported only twice in the literature. We 
      present a patient with primary hyperparathyroidism and medullary thyroid cancer 
      with strong family history of both MEN1- and MEN2A-associated conditions. Genetic 
      testing showed the patient had a novel MEN1 loss-of-function mutation, 
      c0.525_526insTT (p.Ala176Leufs*10), and an uncommon Cys630Tyr RET mutation. This 
      case highlights the importance of obtaining a detailed family history when 
      heritable endocrine disorders are suspected.
CI  - (c) Endocrine Society 2020.
FAU - Brown, Spandana J
AU  - Brown SJ
AUID- ORCID: 0000-0003-0233-869X
AD  - Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill 
      Cornell Medicine, New York, NY.
FAU - Riconda, Daniel L
AU  - Riconda DL
AUID- ORCID: 0000-0003-4553-5722
AD  - Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
FAU - Zheng, Feibi
AU  - Zheng F
AD  - Department of Surgery, Houston Methodist Hospital, Houston, TX, and Weill Cornell 
      Medicine, New York, NY.
FAU - Jackson, Gilchrist L
AU  - Jackson GL
AD  - Department of Surgery, Houston Methodist Hospital, Houston, TX, and Weill Cornell 
      Medicine, New York, NY.
FAU - Suo, Liye
AU  - Suo L
AUID- ORCID: 0000-0001-8838-5969
AD  - Department of Pathology & Genomic Medicine, Houston Methodist Hospital, Houston, 
      TX, and Weill Cornell Medicine, New York, NY.
FAU - Robbins, Richard J
AU  - Robbins RJ
AUID- ORCID: 0000-0002-8107-5199
AD  - Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill 
      Cornell Medicine, New York, NY.
LA  - eng
PT  - Case Reports
DEP - 20200218
PL  - United States
TA  - J Endocr Soc
JT  - Journal of the Endocrine Society
JID - 101697997
PMC - PMC7067549
OTO - NOTNLM
OT  - MEN1
OT  - MEN1
OT  - MEN2A
OT  - RET
OT  - hyperparathyroidism
OT  - medullary thyroid cancer
EDAT- 2020/03/20 06:00
MHDA- 2020/03/20 06:01
PMCR- 2020/02/18
CRDT- 2020/03/20 06:00
PHST- 2020/01/02 00:00 [received]
PHST- 2020/02/15 00:00 [accepted]
PHST- 2020/03/20 06:00 [entrez]
PHST- 2020/03/20 06:00 [pubmed]
PHST- 2020/03/20 06:01 [medline]
PHST- 2020/02/18 00:00 [pmc-release]
AID - bvaa020 [pii]
AID - 10.1210/jendso/bvaa020 [doi]
PST - epublish
SO  - J Endocr Soc. 2020 Feb 18;4(4):bvaa020. doi: 10.1210/jendso/bvaa020. eCollection 
      2020 Apr 1.