Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion
Horm Metab Res DOI: 10.1055/a-1186-0790Most 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 uni...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Petignot, Sandrine Daly, Adrian F. Castermans, Emilie Korpershoek, Esther Scagnol, Ir ène Beckers, Pablo Dideberg, Vinciane Rohmer, Vincent Bours, Vincent Beckers, Albert Tags: Endocrine Care Source Type: research
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