{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Connelly JA"],"funding":["NHGRI NIH HHS"],"pagination":["a002204"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5880254"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["4(2)"],"pubmed_abstract":["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 i"],"journal":["Cold Spring Harbor molecular case studies"],"pubmed_title":["Identification 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."],"pmcid":["PMC5880254"],"funding_grant_id":["UM1 HG006508"],"pubmed_authors":["Connelly JA","Mody RJ","Vats P","Robinson DR","Lonigro RJ","Walkovich K","Wu YM","Anderson B","Rabban E"],"additional_accession":[]},"is_claimable":false,"name":"Identification 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.","description":"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 i","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Apr","modification":"2026-05-02T10:36:45.208Z","creation":"2019-03-26T23:29:09Z"},"accession":"S-EPMC5880254","cross_references":{"pubmed":["29572239"],"doi":["10.1101/mcs.a002204"]}}