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Ref Type Journal Article
PMID (27034432)
Authors Lavallée VP, Krosl J, Lemieux S, Boucher G, Gendron P, Pabst C, Boivin I, Marinier A, Guidos CJ, Meloche S, Hébert J, Sauvageau G
Title Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors.
Journal Blood
Vol 127
Issue 24
Date 2016 06 16
URL
Abstract Text In this study, we analyzed RNA-sequencing data of 14 samples characterized by biallelic CEBPA (CEBPA(bi)) mutations included in the Leucegene collection of 415 primary acute myeloid leukemia (AML) specimens, and describe for the first time high frequency recurrent mutations in the granulocyte colony-stimulating factor receptor gene CSF3R, which signals through JAK-STAT proteins. Chemical interrogation of these primary human specimens revealed a uniform and specific sensitivity to all JAK inhibitors tested irrespective of their CSF3R mutation status, indicating a general sensitization of JAK-STAT signaling in this leukemia subset. Altogether, these results identified the co-occurrence of mutations in CSF3R and CEBPA in a well-defined AML subset, which uniformly responds to JAK inhibitors and paves the way to personalized clinical trials for this disease.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CEBPA mutant acute myeloid leukemia predicted - sensitive AZD1480 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to AZD1480 compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Momelotinib (CYT387) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Jakafi (ruxolitinib) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Xeljanz (tofacitinib) compared to control AML cells in culture (PMID: 27034432). 27034432