@article{10.37349/en.2025.1006102,
abstract = {Neurofibromatosis type 1 (NF1) is a hereditary, autosomal dominant condition marked by the development of tumors along the nervous system due to uncontrolled cell proliferation. The current case reports a 31-year-old male patient diagnosed with NF1 with the involvement of bilateral pheochromocytomas and colonic inflammatory polyps/leiomyoma. A genetic profile was explored through whole-exome sequencing to identify pathogenic variants, and segregation analysis was subsequently performed in the patient's family. Sequencing analysis revealed a novel heterozygous frameshift variant, NF1 c.7301dupA (p.S2435Efs*11), which was identified as the pathogenic variant in the patient. Additionally, two identified variants, PMS2 c.2T>C (p.M1T) and MUTYH c.850-2A>G, may be associated with colonic tumor conditions in the patient. These findings provide insights into the molecular etiology underlying this rare presentation of multiple tumors in a Vietnamese male and may contribute to improved treatment planning and patient management.},
author = {Le, Ha Thanh Tran and Tran, Hai Thi and Nguyen, Linh Khanh and Doan, Lap Tien and La, Quyet Ngoc Kieu and Nguyen-Huu, Thu Hong and Nguyen, Ha Hai},
doi = {10.37349/en.2025.1006102},
journal = {Exploration of Neuroscience},
elocation-id = {1006102},
title = {The genetic profile of a neurofibromatosis type 1 Vietnamese patient with complicated pheochromocytomas and colorectal tumors},
url = {https://www.explorationpub.com/Journals/en/Article/1006102},
volume = {4},
year = {2025}
}