Brief Article
Copyright ©2013 Baishideng. All rights reserved.
World J Med Genet. Feb 27, 2013; 3(1): 1-4
Published online Feb 27, 2013. doi: 10.5496/wjmg.v3.i1.1
Malignant pheochromocytoma in neurofibromatosis; mutation screening of RET proto-oncogene, VHL and SDH gene
Shirin Hasani-Ranjbar, Mahsa M Amoli, Maasumeh Noorani, Mohsen Ghadami
Shirin Hasani-Ranjbar, Obesity and Eating Habits Research Center, Endocrinology and Metabolism Cellular and Molecular Sciences Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran 14114, Iran
Mahsa M Amoli, Maasumeh Noorani, Mohsen Ghadami, Endocrinology and Metabolism Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran 14114, Iran
Author contributions: Hasani-Ranjbar S performed clinical and biochemical tests and followed up the patient, writing and editing the final article; Noorani M prepared the first draft of the paper and helped in writing the manuscript; Amoli MM performed genetic evaluation for von Hippel-Lindau and succinate dehydrogenase complex subunits; Ghadami M performed genetic tests for RET proto-oncogene and helped in writing the manuscript.
Correspondence to: Shirin Hasani-Ranjbar, Endocrinologist, Obesity and Eating Habits Research Center, Endocrinology and Metabolism Cellular and Molecular Sciences Institute, Shariati Hospital, Tehran University of Medical Sciences, North Kargar Ave., Tehran 14114, Iran. sh_hasani@sina.tums.ac.ir
Telephone: +9821-8-8220037 Fax: +9821-8-8220052
Received: January 29, 2013
Revised: February 11, 2013
Accepted: February 20, 2013
Published online: February 27, 2013
Core Tip

Core tip: Malignant pheochromocytoma associated with neurofibromatosis (NF) is very rare. We screened for all possible mutations related to pheochromocytoma in a patient with NF and malignant pheochromocytoma but found no mutations. This negative result shows that the NF1 gene is responsible for this rare presentation.