Multiple endocrine neoplasia type 1‐associated cystic pancreatic endocrine neoplasia and multifocal cholesterol granulomas

Abstract

A novel combination of tumors was found in a 68 year-old female with Multiple Endocrine Neoplasia type-1 (MEN 1) that included a cystic pancreatic endocrine neoplasm (CPEN), a pituitary adenoma, and multifocal cholesterol granulomas (MCGs) in the breast, pleura, and the extremities. The pancreatic tumor displayed a single central locule surrounded by a thin rim of neoplastic parenchyma. The tumor showed heterogeneity in the architecture that included glandular, trabecular and solid patterns. The tumor cells of the pancreas were immunohistochemically positive for both endocrine and pancreatic acinar markers including chromogranin A, synaptophysin, glucagon, lipase, and reg protein. Electron microscopy revealed that there were numerous smaller dense-cored neurosecretory granules, larger zymogen-like granules and microvilli on the apical side of the tumor cells. The pancreatic tumor was diagnosed as CPEN with acinar cell features. Analysis of the DNA extracted from the tissues revealed that there is a MEN1 germline mutation in exon 10 codon 527, and somatic mutation in exon 2 codon 32 in the pancreatic tumor, and one base pair deletion in exon 2 codon 79 in the pituitary adenoma. Here, we report the case and discuss possible pathogenesis of CPEN and MCGs in a patient with MEN 1.

Cholesterol granuloma of the anterior mediastinum with osseous metaplasia

“…12 There has been a case of multiple cholesterol granulomas associated with multiple endocrine neoplasia type-1, thought to be caused by systemic distribution of pancreatic enzymes. 13 …”

Cholesterol Granuloma of Chest Wall – A very Rare Benign Tumour

“…Cholesterol from the destroyed cell membranes forms crystalline complexes which provoke a foreign body giant-cell reaction. 14 This process can result in a slow-growing mass which has the potential to be locally aggressive. 2 Hyperlipidemia, cholesterol emboli, and impaired lymphatic drainage may also play a role in the formation of these lesions.…”

Molecular Targets for the Treatment of Juvenile Myelomonocytic Leukemia

“…Prior to the revision in 2008, JMML was diagnosed based on the following criteria: presence of peripheral blood monocytosis (>1000/ μ L); less than 20% blasts in the bone marrow; absence of Philadelphia (Ph) chromosome or BCR-ABL fusion gene AND at least two of the following criteria: increased HbF levels; presence of immature myeloid precursors in the peripheral blood; white blood cell count >10,000/ μ L; GM-CSF hypersensitivity of myeloid progenitors in vitro [5, 9]. In 2008, the JMML diagnostic criteria were revised to account for the molecular genetic abnormalities that were identified in this disease [5].…”