SET-NUP214 Fusion Gene Involved Early T-Cell Precursor Acute Lymphoblastic Leukemia in Adult with B Marker Expression

Abstract

Xiaoying Xu,1 Qiongli Zhai,1 Hao Jin,2 Yong Yu,3 Dongmei Han,2 Huilai Zhang,4 Kai Fu,5 Bin Meng1 1Department of Pathology, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin’s Clinical Research Center for Cancer, Tianjin, People’s Republic of China; 2International Personalized Cancer Center, Tianjin Cancer Hospital Airport Hospital, Tianjin, People’s Republic of China; 3Department of Hematology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, People’s Republic of China; 4Department of Lymphoma, Tianjin Medical University Cancer Institute and Hospital, Tianjin, People’s Republic of China; 5Department of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USACorrespondence: Bin MengDepartment of Pathology, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center of Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin’s Clinical Research Center for Cancer, Tianjin, 300060, People’s Republic of ChinaTel [phone]Fax [phone]-6202Email [email protected] FuDepartment of Pathology, Roswell Park Comprehensive Cancer Center, Buffalo, NY, 14263, USATel [phone]Email [email protected]: Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is rare and associated with poor clinical outcome especially in adults. ETP tumor cells that express cross-lineage antigens or lack pan T markers usually pose big challenges to diagnosis, and their prognostic implications are therefore more uncertain. This study reports the unique case of a 44-year-old woman with breast mass as the initial presentation of acute leukemia possessing both T- and B-cell features (cytoplasmic CD3+CD7+CD19+CD79a+). Despite the presence of gene rearrangements of IGH and IGK probably in a small amount of B cells, the patient was diagnosed with T-ALL mainly according to WHO criteria, and further ETP-ALL rather than mixed phenotype ALL based on additional positive expression of stem/myeloid lineage antigens (CD34+CD13+CD33+HLA-DR+). Moreover, in spite of normal karyotype, SET-NUP214 gene fusion is identified, which has not been described in ETP-ALL with bi-phenotype. After intensive chemotherapy, the patient achieved short-term morphologic complete remission but relapsed within one month. This report may expand immunophenotype and clinical behavior of ETP-ALL in adults. Comprehensive evaluations are emphasized in making a differential diagnosis and distinguishing subtypes of acute leukemia.Keywords: adult acute lymphoblastic leukemia, early T-cell precursor, mixed phenotype acute leukemia, breast infiltration, SET-NUP214 fusion gene

Keywords

• adult acute lymphoblastic leukemia
• early t-cell precursor
• mixed phenotype acute leukemia
• breast infiltration
• set-nup214 fusion gene