TY  - JOUR
TI  - The genetic profile of a neurofibromatosis type 1 Vietnamese patient with complicated pheochromocytomas and colorectal tumors
AU  - Le, Ha Thanh Tran
AU  - Tran, Hai Thi
AU  - Nguyen, Linh Khanh
AU  - Doan, Lap Tien
AU  - La, Quyet Ngoc Kieu
AU  - Nguyen-Huu, Thu Hong
AU  - Nguyen, Ha Hai
PY  - 2025
JO  - Exploration of Neuroscience
VL  - 4
SP  - 1006102
DO  - 10.37349/en.2025.1006102
UR  - https://www.explorationpub.com/Journals/en/Article/1006102
AB  - 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.
ER  -