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Start Over Author "Jinlan Pan" Publisher ferrata storti foundation
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2. Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia

Author

Qian Wang, Huiying Qiu, Hui Jiang, Lili Wu, Shasha Dong, Jinlan Pan, Wenjuan Wang, Nana Ping, Jing Xia, Aining Sun, Depei Wu, Yongquan Xue, Hans G. Drexler, Roderick A. F. MacLeod, and Suning Chen

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Background Mutations in the PHF6 gene were recently described in patients with T-cell acute lymphoblastic leukemia and in those with acute myeloid leukemia. The present study was designed to determine the prevalence of PHF6 gene alterations in T-cell acute lymphoblastic leukemia.Design and Methods We analyzed the incidence and prognostic value of PHF6 mutations in 96 Chinese patients with T-cell acute lymphoblastic leukemia. PHF6 deletions were screened by real-time quantitative polymerase chain reaction and array-based comparative genomic hybridization. Patients were also investigated for NOTCH1, FBXW7, WT1, and JAK1 mutations together with CALM-AF10, SET-NUP214, and SIL-TAL1 gene rearrangements.Results PHF6 mutations were identified in 11/59 (18.6%) adult and 2/37 (5.4%) pediatric cases of T-cell acute lymphoblastic leukemia, these incidences being significantly lower than those recently reported. Although PHF6 is X-linked and mutations have been reported to occur almost exclusively in male patients, we found no sex difference in the incidences of PHF6 mutations in Chinese patients with T-cell acute lymphoblastic leukemia. PHF6 deletions were detected in 2/79 (2.5%) patients analyzed. NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively. The molecular genetic markers most frequently associated with PHF6 mutations were NOTCH1 mutations (P=0.003), SET-NUP214 rearrangements (P=0.002), and JAK1 mutations (P=0.005). No differences in disease-free survival and overall survival between T-cell acute lymphoblastic leukemia patients with and without PHF6 mutations were observed in a short-term follow-up.Conclusions Overall, these results indicate that, in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214.

Published
2011
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3. Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia

Author

Shasha Dong, Hans G. Drexler, Huiying Qiu, Lili Wu, Qian Wang, Nana Ping, Wenjuan Wang, Suning Chen, Jinlan Pan, Roderick A.F. MacLeod, Depei Wu, Jing Xia, Yongquan Xue, Aining Sun, and Hui Jiang

Subjects
Adult, Genetic Markers, Male, China, Adolescent, Oncogene Proteins, Fusion, T cell, Biology, medicine.disease_cause, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Sex Factors, Asian People, hemic and lymphatic diseases, medicine, Prevalence, Humans, Histone Chaperones, Receptor, Notch1, Child, Gene, Aged, Mutation, Incidence (epidemiology), Myeloid leukemia, Hematology, Original Articles, Janus Kinase 1, Middle Aged, Molecular biology, DNA-Binding Proteins, Nuclear Pore Complex Proteins, Repressor Proteins, medicine.anatomical_structure, Real-time polymerase chain reaction, Genetic marker, Female, Carrier Proteins, Comparative genomic hybridization, Transcription Factors
Abstract

Background Mutations in the PHF6 gene were recently described in patients with T-cell acute lymphoblastic leukemia and in those with acute myeloid leukemia. The present study was designed to determine the prevalence of PHF6 gene alterations in T-cell acute lymphoblastic leukemia. Design and Methods We analyzed the incidence and prognostic value of PHF6 mutations in 96 Chinese patients with T-cell acute lymphoblastic leukemia. PHF6 deletions were screened by real-time quantitative polymerase chain reaction and array-based comparative genomic hybridization. Patients were also investigated for NOTCH1 , FBXW7 , WT1 , and JAK1 mutations together with CALM-AF10 , SET-NUP214 , and SIL-TAL1 gene rearrangements. Results PHF6 mutations were identified in 11/59 (18.6%) adult and 2/37 (5.4%) pediatric cases of T-cell acute lymphoblastic leukemia, these incidences being significantly lower than those recently reported. Although PHF6 is X-linked and mutations have been reported to occur almost exclusively in male patients, we found no sex difference in the incidences of PHF6 mutations in Chinese patients with T-cell acute lymphoblastic leukemia. PHF6 deletions were detected in 2/79 (2.5%) patients analyzed. NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively. The molecular genetic markers most frequently associated with PHF6 mutations were NOTCH1 mutations ( P =0.003), SET-NUP214 rearrangements ( P =0.002), and JAK1 mutations ( P =0.005). No differences in disease-free survival and overall survival between T-cell acute lymphoblastic leukemia patients with and without PHF6 mutations were observed in a short-term follow-up. Conclusions Overall, these results indicate that, in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1 , JAK1 and rearrangement of SET-NUP214 .

Published
2011

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