title: Long-term follow up of a "sporadic" unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman.
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.
authors.affiliation: CCRI St. Anna Children's Hospital, Vienna, Austria.
authors.forename: Andreas
authors.initials: A
authors.lastname: Weinhäusel
authors.forename: Annemarie
authors.initials: A
authors.lastname: Behmel
authors.forename: Bruce A J
authors.initials: BA
authors.lastname: Ponder
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Bruno
authors.initials: B
authors.lastname: Niederle
authors.forename: Alois
authors.initials: A
authors.lastname: Gessl
authors.forename: Heinrich
authors.initials: H
authors.lastname: Vierhapper
authors.forename: Roswitha
authors.initials: R
authors.lastname: Pfragner
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000368:Aged; D002116:Calcitonin / Q000097:blood; D018276:Carcinoma, Medullary / Q000235:genetics / Q000601:surgery; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D009154:Mutation; D010673:Pheochromocytoma / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics / Q000601:surgery; D013965:Thyroidectomy; D014407:Tumor Cells, Cultured
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases