51. Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case.
- Author
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Hibi Y, Ohye T, Ogawa K, Shimizu Y, Shibata M, Kagawa C, Mizuno Y, Uchino S, Kosugi S, Kurahashi H, and Iwase K
- Subjects
- Adrenal Gland Neoplasms diagnosis, Adrenal Gland Neoplasms pathology, Adrenal Gland Neoplasms surgery, Adrenalectomy, Calcitonin, Diagnostic Imaging, Female, Humans, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 2a diagnosis, Multiple Endocrine Neoplasia Type 2a pathology, Multiple Endocrine Neoplasia Type 2a surgery, Pedigree, Pheochromocytoma diagnosis, Pheochromocytoma pathology, Pheochromocytoma surgery, Protein Structure, Tertiary genetics, Protein-Tyrosine Kinases chemistry, Protein-Tyrosine Kinases genetics, Thyroid Function Tests methods, Thyroid Neoplasms diagnosis, Thyroid Neoplasms pathology, Thyroid Neoplasms surgery, Thyroidectomy, Adrenal Gland Neoplasms genetics, Multiple Endocrine Neoplasia Type 2a genetics, Mutation, Pheochromocytoma genetics, Proto-Oncogene Proteins c-ret genetics, Thyroid Neoplasms genetics
- Abstract
We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.
- Published
- 2014
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