Pheochromocytoma in Multiple Endocrine Neoplasia Type 2

Abstract

This pheochromocytoma is from an adrenal gland of an individual with multiple endocrine neoplasia type 2. What statement is most accurate regarding pheochromocytoma in multiple endocrine neoplasia type 2?a.Pheochromocytomas in the setting of multiple endocrine neoplasia type 2 are almost always single and unilateralb.Pheochromocytoma associated with multiple endocrine neoplasia type 2 is often associated with diffuse medullary hyperplasia or small nodulesc.Pheochromocytoma is almost always the presenting feature in multiple endocrine neoplasia type 2, occurring decades before medullary thyroid carcinomad.In the setting of multiple endocrine neoplasia type 2, pheochromocytomas are usually very aggressive with a high mortality rate due to metastatic pheochromocytoma Answer: b. Pheochromocytoma associated with multiple endocrine neoplasia type 2 is often associated with diffuse medullary hyperplasia or small nodules Pheochromocytoma occurs in approximately 50% of cases of multiple endocrine neoplasia type 2. In this setting, it generally presents about a decade after medullary thyroid carcinoma.1Raue F. Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2.Clinics (Sao Paulo). 2012; 67: 69-75Crossref PubMed Scopus (49) Google Scholar In multiple endocrine neoplasia type 2, the underlying genetic abnormality is germline RET mutation. Overall, pheochromocytomas and paragangliomas in adults are associated with an underlying pathogenic germline abnormality in approximately 40% of cases.2Turchini J. Cheung V.K.Y. Tischler A.S. et al.Pathology and genetics of phaeochromocytoma and paraganglioma.Histopathology. 2018; 72: 97-105Crossref PubMed Scopus (54) Google Scholar Hereditary paragangliomas and pheochromocytomas are not limited to multiple endocrine neoplasia type 2, as they can occur with other syndromes and germline genetic abnormalities such as in von Hippel-Lindau, neurofibromatosis type 1, and succinate dehydrogenase subunit-related tumors, as well as in those associated with underlying abnormalities of TMEM127, FH, MAX, and other genes. Hereditary and sporadic pheochromocytomas and paragangliomas may be histologically similar, however, in multiple endocrine neoplasia type 2 the tumors can be multiple or single and may be associated with diffuse or nodular (micro-pheochromocytomas) adrenal medullary hyperplasia as well as hyaline globules (see figure).3Webb T.A. Sheps S.G. Carney J.A. Differences between sporadic pheochromocytoma and pheochromocytoma in multiple endocrime neoplasia, type 2.Am J Surg Pathol. 1980; 4: 121-126Crossref PubMed Scopus (56) Google Scholar,4Gosset P. Lecomte-Houcke M. Duhamel A. et al.112 cases of sporadic and genetically determined pheochromocytoma: a comparative pathologic study.Ann Pathol. 1999; 19: 480-486PubMed Google Scholar