학술논문
Genetic landscape and clinical outcomes of patients with BCOR mutated myeloid neoplasms.
Document Type
Academic Journal
Author
Baranwal A; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA; Cancer Centers of Southwest Oklahoma, Lawton, OK.; Gurney M; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Basmaci R; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Katamesh B; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; He R; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Viswanatha DS; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Greipp P; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Foran J; Division of Hematology-Oncology, Blood and Marrow Transplantation Program, Department of Medicine, Mayo Clinic, Jacksonville, FL.; Badar T; Division of Hematology-Oncology, Blood and Marrow Transplantation Program, Department of Medicine, Mayo Clinic, Jacksonville, FL.; Murthy H; Division of Hematology-Oncology, Blood and Marrow Transplantation Program, Department of Medicine, Mayo Clinic, Jacksonville, FL.; Yi CA; Division of Hematology, Department of Medicine, Mayo Clinic, Phoenix, AZ.; Palmer J; Division of Hematology, Department of Medicine, Mayo Clinic, Phoenix, AZ.; Mangaonkar AA; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Patnaik MM; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Litzow MR; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Hogan WJ; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Begna K; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Gangat N; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Tefferi A; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Al-Kali A; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Shah MV; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN.; Alkhateeb HB; Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN. Alkhateeb.Hassan@mayo.edu.
Source
Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
Subject
Language
English
Abstract
The BCL6-corepressor (BCOR) is a tumor-suppressor gene located on the short arm of chromosome X. Data are limited regarding factors predicting survival in BCOR-mutated (mBCOR) acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). We evaluated 138 patients with mBCOR myeloid disorders, of which 36 (26.1%) had AML and 63 (45.6%) had MDS. Sixty-six (47.8%) patients had a normal karyotype while 18 (13%) patients had complex karyotype. BCOR-mutated MDS/AML were highly associated with RUNX1 and U2AF1 co-mutations. In contrast, TP53 mutation was infrequently seen with mBCOR MDS. Patients with an isolated BCOR mutation had similar survival compared to those with high-risk co-mutations by European LeukemiaNet (ELN) 2022 criteria (median OS 1.16 vs. 1.27 years, P=0.46). Complex karyotype adversely impacted survival among mBCOR AML/MDS (HR 4.12, P<0.001), while allogeneic stem cell transplant (alloSCT) improved survival (HR 0.38, P=0.04). However, RUNX1 co-mutation was associated with an increased risk of post-alloSCT relapse (HR 88.0, P=0.02), whereas melphalan-based conditioning was associated with a decreased relapse risk (HR 0.02, P=0.01). We conclude that mBCOR is a high-risk feature across MDS/AML, and that alloSCT improves survival in this population.