Sherif Ibrahim
Research Subjects
Sherif Ibrahim has a total of 5 co-authors. Here are the top co-authors by number of shared publications:
- Ashish Bains
Department of Pathology and Laboratory Medicine
1 shared publication - Camille Lobry
INSERM UMR 1342, Institut de Recherche Saint-Louis, Paris, France
1 shared publication - David J. Araten
Laura and Isaac Perlmutter Cancer Center and the New York VA Medical Center
1 shared publication - Iannis Aifantis
Department of Pathology, NYU Grossman School of Medicine, New York, USA
1 shared publication - Leah B. Zamechek
Columbia University Medical Center 1 Division of Digestive and Liver Diseases and Herbert Irving Comprehensive Cancer Center New York, New York
1 shared publication
Latest Publications
- Open Access
- 21 August 2019
- Published by Springer Nature in Experimental Hematology & Oncology
- Vol. 8 (1) , 1-7
Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH)
Large clonal populations of cells bearing PIG-A mutations are the sine qua non of PNH, but the PIG-A mutation itself is insufficient for clonal expansion. The association between PNH and aplastic anemia supports the immune escape model, but not all PNH patients demonstrate a history of aplasia; therefore, second genetic hits driving clonal expansion have been postulated. Based on the previous identification of JAK2 mutations in patients with a myeloproliferative/PNH overlap syndrome, we considered TET2 as a candidate gene in which mutations might be contributing to clonal expansion. Here we sequenced the TET2 and JAK2 genes in 19 patients with large PNH clones. We found one patient with a novel somatic nonsense mutation in TET2 in multiple hematopoietic lineages, which was detectable upon repeat testing. This patient has had severe thromboses and has relatively higher peripheral blood counts compared with the other patients—but does not have other features of a myeloproliferative neoplasm. We conclude that mutations in TET2 may contribute to clonal expansion in exceptional cases of PNH.
- 21 August 2019
- Published by Springer Nature in Experimental Hematology & Oncology
- Vol. 8 (1) , 1-7
Open AccessAnalysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH)
Large clonal populations of cells bearing PIG-A mutations are the sine qua non of PNH, but the PIG-A mutation itself is insufficient for clonal expansion. The association between PNH and aplastic anemia supports the immune escape model, but not all PNH patients demonstrate a history of aplasia; therefore, second genetic hits driving clonal expansion have been postulated. Based on the previous identification of JAK2 mutations in patients with a myeloproliferative/PNH overlap syndrome, we considered TET2 as a candidate gene in which mutations might be contributing to clonal expansion. Here we sequenced the TET2 and JAK2 genes in 19 patients with large PNH clones. We found one patient with a novel somatic nonsense mutation in TET2 in multiple hematopoietic lineages, which was detectable upon repeat testing. This patient has had severe thromboses and has relatively higher peripheral blood counts compared with the other patients—but does not have other features of a myeloproliferative neoplasm. We conclude that mutations in TET2 may contribute to clonal expansion in exceptional cases of PNH.