Long-term follow up of a “sporadic” unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman

Authors: Weinhäusel, Andreas¹; Behmel, Annemarie²; Ponder, Bruce³; Haas, Oskar¹; Niederle, Bruno⁴; Gessl, Alois⁵; Vierhapper, Heinrich⁵; Pfragner, Roswitha⁶

Source: Endocrine Pathology, Volume 14, Number 4, December 2003 , pp. 375-382(8)

Publisher: Humana Press

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Abstract:

A unilateral, apparently sporadic pheochromocytoma was removed from the right adrenal of a 73-yr-old Caucasian woman. At the time of surgery, germline DNA from the patient was not available. However, a continuous cell line (KNA) established from the tumor showed a heterozygous sequence variant TGC (cysteine) to TGG (tryptophan) in exon 10, codon 611 of the RET proto-oncogene. Subsequent genetic testing of the patient and her offspring revealed the same base-change in herself, one daughter, one son, and the only grandson, confirming hereditary disease classified as MEN2A-2. Clinical follow up of the patient revealed elevated serum calcitonin after 6 yr. Thyroidectomy was performed and revealed a small medullary thyroid carcinoma. The patient's children thus far show no evidence of MEN2, but C-cell hyperplasia has been diagnosed in the grandson. Our serendipitous finding of a MEN2A-2 mutation in a patient with initial diagnosis of late onset, unilateral, “sporadic” pheochromocytoma would argue for routine mutation screening of even elderly patients presenting with a pheochromocytoma.

Keywords: Pheochromocytoma; multiple endocrine neoplasia 2A-2; RET proto-oncogene screening

Document Type: Research article

DOI: http://dx.doi.org/10.1385/EP:14:4:375

Affiliations: 1: CCRI St. Anna Children's Hospital, Vienna, Austria, 2: Department of Medical Biology and Human Genetics, Medical University of Graz, Austria, 3: CRC Department of Oncology, Hutchinson/MRC Research Centre, University of Cambridge, UK, 4: Section Endocrine Surgery, Department of Surgery, University of Vienna, Austria, 5: Division of Endocrinology and Metabolism, Department of Internal Medicine III, University of Vienna, Austria, 6: Department of Pathophysiology, Medical University of Graz, Heinrichstrasse 31, A-8010, Graz, Austria, Email: roswitha.pfragner@uni-graz.at

Publication date: 2003-12-01

Long-term follow up of a “sporadic” unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman

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