Multiple endocrine neoplasia type 1 presented with manic-depressive disorder: a case report with an identified MEN1 gene mutation

Japanese Journal of Clinical Oncology
A AokiK Yamaguchi

Abstract

We report a case of multiple endocrine neoplasia type 1 who had repeated hypoglycemic episodes and had previously been diagnosed with bipolar manic-depressive disorder. The patient had a positive family history of multiple endocrine neoplasia type 1 and had multiple pancreatic endocrine tumors, hyperparathyroidism and possibly a pituitary tumor. The pancreatic tumors were resected by subtotal pancreatectomy and examined by histochemical staining and gene analysis. The tumor cells were positive for immunoreactive insulin and glucagon. A microsatellite polymorphism analysis revealed loss of heterozygosity on 11q13 in the tumors. By polymerase chain reaction-based nucleotide sequencing, we identified a germline mutation 483del2 of the MEN1 gene in the normal pancreatic tissue of the patient. This mutation causes a shift of the reading frame of menin mRNA at codon 125. It seems that the wild type allele of the MEN1 gene had been lost in the tumor cells whereas the mutant allele remained intact. This is the first identified MEN1 gene mutation in Japanese families and is different from all MEN1 gene mutations reported previously.

References

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Citations

Dec 13, 2006·The Journal of Surgical Research·Shihe LiuF Charles Brunicardi
Mar 24, 1998·Japanese Journal of Cancer Research : Gann·M KishiK Yamaguchi
Jan 5, 2000·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·J M Martín-CamposF Blanco-Vaca
Sep 1, 1999·Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology·S Salvi, S T Holgate
Sep 1, 2000·Seminars in Cancer Biology·F Ki WongB Tean Teh
Jun 14, 2021·Comprehensive Psychiatry·Anna La SalviaFrancesco Oliva
Oct 15, 2021·Internal Medicine·Nobuyuki KoyamaYoshiya Katsura

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