Clinical Research Papers:

Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans

Yi Xia, Lei Fan, Li Wang, Robert Peter Gale, Man Wang, Tian Tian, Wei Wu, Liang Yu, Yao-Yu Chen, Wei Xu _ and Jian-Yong Li

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Oncotarget. 2015; 6:5426-5434. https://doi.org/10.18632/oncotarget.3101

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Yi Xia1, Lei Fan1, Li Wang1, Robert Peter Gale2, Man Wang1, Tian Tian1, Wei Wu1, Liang Yu3, Yao-Yu Chen1, Wei Xu1 and Jian-Yong Li1

1 Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China

2 Haematology Research Centre, Division of Experimental Medicine, Department of Medicine, Imperial College London, London, United Kingdom

3 Department of Hematology, Huai’an First People’s Hospital, Nanjing Medical University, Huai’an, Jiangsu Province, China


Wei Xu, email:

Jian-Yong Li, email:

Keywords: SF3B1, NOTCH1, MYD88, mutation, chronic lymphocytic leukemia

Received: September 01, 2014 Accepted: December 29, 2014 Published: December 31, 2014


We studied 307 consecutive Chinese with chronic lymphocytic leukemia (CLL) in diverse disease-stages before and after diverse therapies for mutations in several CLL-related genes. Mutation frequencies were SF3B1, 5%, NOTCH1, 8%, MYD88, 8%, BIRC3, 2%, TP53, 15% and IGHV, 60%. Several of these frequencies differ from those reported in persons of predominately European descent with CLL. Biological and clinical associations were detected including SF3B1 and NOTCH1 mutations with un-mutated IGHV, MYD88 mutations with mutated IGHV, SF3B1 mutations with fludarabine-resistant CLL and NOTCH1 mutation with advanced Binet disease stage and with +12. The NOTCH1 correlation with briefer survival was confirmed in multivariate analyses but the SF3B1 correlation was confounded by concurrent mutations in TP53 and germline IGHV. We show differences in incidence and prognostic impact of mutations in Chinese and CLL compared with persons of predominately European descent with CLL. These data may give insights into the etiology and biology of CLL and suggests different risk stratification models may be needed for different CLL populations.

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