title: Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome.
abstract: Gastroenteropancreatic neuroendocrine tumors are uncommon tumors representing 2% of all gastrointestinal tumors. We report a case of a 21-year-old man with X-linked hyperimmunoglobulin M (hyper-IgM) syndrome who presented with diarrhea and jaundice. An ultrasound and magnetic resonance imaging showed multiple variable-sized lesions in the liver and peripancreatic lymphadenopathy. The morphologic and immunohistochemical features of the biopsies from the liver and lymph node were consistent with poorly differentiated neuroendocrine carcinoma. Hyper-IgM syndrome is a rare primary immunodeficiency disease characterized by low serum IgG, IgA, and IgE levels with normal or elevated IgM levels. These patients are at a higher risk for developing malignancies, particularly adenocarcinoma of the gastrointestinal tract and lymphoma. A review of the literature of gastroenteropancreatic neuroendocrine tumors is presented with the discussion of a possible relationship of these tumors with immunodeficiency.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Texas Health Science Center, Medical School, 6431 Fannin St, MSB 2.278, Houston, TX 77030, USA. reenu66@yahoo.com
authors.forename: Reenu K
authors.initials: RK
authors.lastname: Malhotra
authors.forename: Wei
authors.initials: W
authors.lastname: Li
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D041321:Chromosomes, Human, X / Q000235:genetics; D005770:Gastrointestinal Neoplasms / Q000737:chemistry / Q000150:complications / Q000473:pathology*; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D016867:Immunocompromised Host; D008297:Male; D018358:Neuroendocrine Tumors / Q000737:chemistry / Q000150:complications / Q000473:pathology*; D010190:Pancreatic Neoplasms / Q000737:chemistry / Q000150:complications / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor