Medizinische Universität Graz - Research portal
Selected Publication:
Weinhäusel, A; Behmel, A; Ponder, BA; Haas, OA; Niederle, B; Gessl, A; Vierhapper, H; Pfragner, R.
Long-term follow up of a sporadic unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman.
Endocr Pathol. 2003; 14(4):375-382
Doi: 10.1385%2FEP%3A14%3A4%3A375
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Pfragner Roswitha
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adrenal Gland Neoplasms - genetics
- Aged - genetics
- Calcitonin - blood
- Carcinoma, Medullary - genetics
- Female - genetics
- Heterozygote - genetics
- Humans - genetics
- Male - genetics
- Multiple Endocrine Neoplasia Type 2a - genetics
- Mutation - genetics
- Pheochromocytoma - genetics
- Proto-Oncogene Proteins - genetics
- Proto-Oncogene Proteins c-ret - genetics
- Receptor Protein-Tyrosine Kinases - genetics
- Thyroid Neoplasms - genetics
- Thyroidectomy - genetics
- Tumor Cells, Cultured - genetics
- Find related publications in this database (Keywords)
- pheochromocytoma
- multiple endocrine neoplasia 2A-2
- RET proto-oncogene screening