biostudies-literatureConnelly JANHGRI NIH HHSa002204https://www.ebi.ac.uk/biostudies/studies/S-EPMC5880254biostudies-literatureUnknown4(2)Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by defective myelopoiesis and a high incidence of malignant transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). SCN patients who develop MDS/AML have excessive toxicities to traditional chemotherapy, and safer therapies are needed to improve overall survival in this population. In this report, we outline the use of a prospective integrative clinical sequencing trial (PEDS-MIONCOSEQ) in a patient with SCN and AML to help identify oncogenic targets for less toxic agents. Integrative sequencing identified two somatic <i>cis</i>-mutations in the colony stimulating factor 3 receptor (<i>CSF3R</i>) gene, a p.T640N mutation in the transmembrane region and a p.Q768* truncation mutation iCold Spring Harbor molecular case studiesIdentification of novel <i>MECOM</i> gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review.PMC5880254UM1 HG006508Connelly JAMody RJVats PRobinson DRLonigro RJWalkovich KWu YMAnderson BRabban EfalseIdentification of novel <i>MECOM</i> gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review.Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by defective myelopoiesis and a high incidence of malignant transformation to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). SCN patients who develop MDS/AML have excessive toxicities to traditional chemotherapy, and safer therapies are needed to improve overall survival in this population. In this report, we outline the use of a prospective integrative clinical sequencing trial (PEDS-MIONCOSEQ) in a patient with SCN and AML to help identify oncogenic targets for less toxic agents. Integrative sequencing identified two somatic <i>cis</i>-mutations in the colony stimulating factor 3 receptor (<i>CSF3R</i>) gene, a p.T640N mutation in the transmembrane region and a p.Q768* truncation mutation i2018-01-01T00:00:00Z2018 Apr2026-05-02T10:36:45.208Z2019-03-26T23:29:09ZS-EPMC58802542957223910.1101/mcs.a002204