Abstract.
Purpose: Mutations in the GTPase-activating protein-related domain (GRD) of the von Recklinghausen neurofibromatosis type 1 (NF1) gene have been reported in several tumors that were not previously associated with NF1. We analyzed 37 cases of lung cancer, including 9 cases of small cell carcinoma, to detect mutations in this domain.
Methods: DNA was extracted from the tumors, and single-strand conformation polymorphism and direct sequencing were used to detect mutations.
Results: Three cases of small cell carcinoma had mutations in NF1-GRD. There were two incidences of an A → G transition at the second base of codon 1415 resulting in Glu → Gly substitution, and one incidence of an A → G transition at the third base of codon 1411 (Pro) without amino acid substitution. All three patients had both hilar and mediastinal lymphatic metastasis.
Conclusions: A mutation in this region could imply a poor prognosis.
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Received: February 21, 2002 / Accepted: November 19, 2002
Reprint requests to: K. Furukawa, Department of Surgery, Yaizu Municipal General Hospital, 1000 Doubara, Yaizu, Shizuoka 425-8505, Japan
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Furukawa, K., Yanai, N., Fujita, M. et al. Novel Mutations of Neurofibromatosis Type 1 Gene in Small Cell Lung Cancers. Surg Today 33, 323–327 (2003). https://doi.org/10.1007/s005950300074
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DOI: https://doi.org/10.1007/s005950300074