PMID- 32521546
OWN - NLM
STAT- MEDLINE
DCOM- 20210817
LR  - 20210817
IS  - 1439-4286 (Electronic)
IS  - 0018-5043 (Linking)
VI  - 52
IP  - 11
DP  - 2020 Nov
TI  - Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion.
PG  - 784-787
LID - 10.1055/a-1186-0790 [doi]
AB  - Most pancreatic neuroendocrine neoplasms (pNEN) occur sporadically but they can 
      also occur as part of multiple endocrine neoplasia type 1 (MEN1). MAX was 
      originally described as an inherited pheochromocytoma-paraganglioma risk gene, 
      but also has recently been implicated in pituitary tumorigenesis. Here we 
      describe the first case of a pNEN associated with an inherited MAX gene deletion 
      in a family with endocrine tumors. The patient was a male carrier of an 
      intragenic exon 3 deletion inherited from his father who had recurrent 
      pheochromocytomas and a macroprolactinoma. The patient underwent screening and 
      hormonal studies but no pheochromocytoma-paraganglioma, pituitary or renal tumors 
      were identified. However, abdominal magnetic resonance imaging (MRI) identified a 
      1 cm lesion in body of the pancreas. The lesion was hyperintense on T2-weighted 
      signal, and there was hyperfixation of the tumor on 68Ga-DOTANOC PET-CT images. 
      No biochemical evidence of pancreatic hormone excess was identified. Following a 
      guided biopsy, a pathological diagnosis of a low grade pNEN was made and 
      immunohistochemistry showed loss of MAX nuclear staining. Genetic analysis of the 
      tumor tissue indicated copy number neutral loss of heterozygosity consistent with 
      uniparental disomy. This is the first reported case of a MAX deletion associated 
      pNEN and strengthens the argument that MAX may represent an inheritable multiple 
      endocrine neoplasia risk gene. Further analysis of germline and somatic MAX 
      mutations/deletions in large cohorts of unexplained NEN cases could help clarify 
      the potential role of MAX in NEN etiology.
CI  - Thieme. All rights reserved.
FAU - Petignot, Sandrine
AU  - Petignot S
AD  - Department of Endocrinology, Liege Universite, Liege, Belgium.
FAU - Daly, Adrian F
AU  - Daly AF
AUID- ORCID: 0000-0001-6130-2975
AD  - Department of Endocrinology, Liege Universite, Liege, Belgium.
FAU - Castermans, Emilie
AU  - Castermans E
AD  - Department of Human Genetics, Liege Universite, Liege, Belgium.
FAU - Korpershoek, Esther
AU  - Korpershoek E
AD  - Department of Pathology, Erasmus University Medical Center, Rotterdam, The 
      Netherlands.
FAU - Scagnol, Irene
AU  - Scagnol I
AD  - Department of Pathology, Liege Universite, Liege, Belgium.
FAU - Beckers, Pablo
AU  - Beckers P
AD  - Department of Human Genetics, Liege Universite, Liege, Belgium.
FAU - Dideberg, Vinciane
AU  - Dideberg V
AD  - Department of Human Genetics, Liege Universite, Liege, Belgium.
FAU - Rohmer, Vincent
AU  - Rohmer V
AD  - Department of Endocrinology, Liege Universite, Liege, Belgium.
FAU - Bours, Vincent
AU  - Bours V
AD  - Department of Human Genetics, Liege Universite, Liege, Belgium.
FAU - Beckers, Albert
AU  - Beckers A
AD  - Department of Endocrinology, Liege Universite, Liege, Belgium.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200610
PL  - Germany
TA  - Horm Metab Res
JT  - Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et 
      metabolisme
JID - 0177722
RN  - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
RN  - 0 (MAX protein, human)
SB  - IM
MH  - Adult
MH  - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - *Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neuroendocrine Tumors/genetics/*pathology
MH  - Pancreatic Neoplasms/genetics/*pathology
MH  - Pedigree
MH  - Prognosis
COIS- The authors declare that they have no conflict of interest.
EDAT- 2020/06/11 06:00
MHDA- 2021/08/18 06:00
CRDT- 2020/06/11 06:00
PHST- 2020/06/11 06:00 [pubmed]
PHST- 2021/08/18 06:00 [medline]
PHST- 2020/06/11 06:00 [entrez]
AID - 10.1055/a-1186-0790 [doi]
PST - ppublish
SO  - Horm Metab Res. 2020 Nov;52(11):784-787. doi: 10.1055/a-1186-0790. Epub 2020 Jun 
      10.