Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme
Sandrine PetignotAlbert Beckers

Abstract

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 ...Continue Reading

References

Jun 21, 2011·Nature Genetics·Iñaki Comino-MéndezAlberto Cascón
Mar 29, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Nelly BurnichonMercedes Robledo
Jun 23, 2012·The Journal of Clinical Endocrinology and Metabolism·Rajesh V ThakkerUNKNOWN Endocrine Society
Dec 24, 2013·Cancer Discovery·Octavio A RomeroMontse Sanchez-Cespedes
Dec 17, 2015·The Journal of Clinical Endocrinology and Metabolism·Esther KorpershoekWinand N M Dinjens
Dec 19, 2015·The Journal of Clinical Endocrinology and Metabolism·V NeychevE Kebebew
Feb 16, 2017·Nature·Aldo ScarpaSean M Grimmond
Mar 9, 2017·Nature Communications·Inga-Marie SchaeferJonathan A Fletcher
Apr 7, 2017·JAMA Oncology·Birke BauschUNKNOWN European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group
Jul 16, 2017·Endocrine-related Cancer·Annunziata Di DomenicoAurel Perren
Aug 22, 2017·Endocrine-related Cancer·Rami AlrezkConstantine A Stratakis
Dec 1, 2017·Journal of Gastrointestinal Oncology·Anna Serracant BarreraFrancisco G Borobia
Dec 22, 2017·Journal of the Endocrine Society·Kelly Lauter RoszkoElizabeth A Lawson
Mar 15, 2018·Endocrine-related Cancer·Adrian F DalyAlbert Beckers
Jan 19, 2019·Endocrine Reviews·Andrea Mafficini, Aldo Scarpa

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Citations

Jan 19, 2021·Endocrine Pathology·Sylvia L AsaAshley B Grossman
Dec 29, 2020·The Journal of Clinical Endocrinology and Metabolism·Amanda J SeabrookEmma L Duncan

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