We describe a rare case of a pediatric patient with a cKIT mutated GIST, who remains in remission with Imatinib monotherapy following complete surgical resection. This case highlights the importance of identifying molecular and cytogenetic aberrations in rare pediatric tumors to identify optimal treatment options.

over 2 years ago

Clinical

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B)

KIT mutation • PDGFRA mutation • KIT expression • KIT L576

imatinib

over2years

BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center. (PubMed, Ann Transl Med)

In this large cohort of Chinese melanoma patients, the frequencies of BRAF and NRAS mutations were lower than those observed in Caucasian cohorts, but the clinicopathological features of BRAF, C-KIT, and NRAS mutation were consistent. Paired primary and metastatic lesions showed high concordance of gene mutations.

over 2 years ago

Journal

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase)

BRAF V600E • BRAF mutation • NRAS mutation • BRAF V600 • KIT mutation • NRAS mutation + BRAF mutation • KIT L576