|Tumor(s)||Gastrointestinal Stromal Tumor|
The M541L mutation has been implicated in hematological malignancies. It may help to identify a subgroup of cases who may benefit from low dose imatinib therapy. KIT mutations are also associated with Gastro Intestinal Stromal Tumors. The KIT variant M541L was originally thought to be associated with increased risk of certain tumors such as aggressive fibromatosis (AF; Dufresne et al., 2010). However, larger scale studies have shown that the prevalence of this mutation within AF does not differ from that of the general population and this variant was not found to be tumor-specific, classifying it as a single nucleotide polymorphism and non-pathogenic (Grabellus et al., 2011).
Rossi S et al 2010 The American journal of surgical pathology;34(10):1480-91. Molecular and Clinicopathologic Characterization of Gastrointestinal Stromal Tumors (GISTs) of Small Size.
AIurlo et al. Identification of kitM541L somatic mutation in chronic eosinophilic leukemia, not otherwise specified and its implication in lowdose imatinib response. 2014 Oncotarget, Vol. 5, No. 13
Dufresne et al..Identification of biological factors predictive of response to imatinib mesylate in aggressive fibromatosis. Br J Cancer. 2010 Aug 10;103(4):482-5..
Grabellus et al. The prevalence of the c-kit exon 10 variant, M541L, in aggressive fibromatosis does not differ from the general population. J Clin Pathol. 2011 Nov;64(11):1021-4.
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