Molecular Profile Detail

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
JAK1 R629_S632delinsSA	hematologic cancer	sensitive	Tofacitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Xeljanz (tofacitinib) treatment resulted in decreased viability of transformed cells expressing JAK1 R629_S632delinsSA in culture (PMID: 34496019).	34496019
JAK1 R629_S632delinsSA	hematologic cancer	sensitive	Ruxolitinib	Preclinical - Cell culture	Actionable	In a preclinical study, Jakafi (ruxolitinib) treatment inhibited Stat5 signaling and decreased viability of transformed cells expressing JAK1 R629_S632delinsSA in culture (PMID: 34496019).	34496019
JAK1 R629_S632delinsSA	hypereosinophilic syndrome	predicted - resistant	Ruxolitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, blood and marrow cells derived from a patient with hypereosinophilia harboring JAK1 R629_S632delinsSA were resistant to Jakafi (ruxolitinib) treatment in culture (PMID: 34496019).	34496019
JAK1 R629_S632delinsSA	hypereosinophilic syndrome	predicted - sensitive	Tofacitinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, Xeljanz (tofacitinib) treatment resulted in decreased viability of blood and marrow cells derived from a patient with hypereosinophilia harboring JAK1 R629_S632delinsSA in culture (PMID: 34496019).	34496019

Profile Name	JAK1 R629_S632delinsSA
Gene Variant Detail	JAK1 R629_S632delinsSA (gain of function)
Relevant Treatment Approaches