CSF3R T618I, ASXL1 G942 fs and STAT5B N642H trimutation co-contribute to a rare chronic neutrophilic leukaemia manifested by rapidly progressive leucocytosis, severe infections, persistent fever and deep venous thrombosis

Qianhui Luo; Jiankai Shen; Yuan Yang; Haiyan Tang; Meng Shi; Jun Liu; Zhonghua Liu; Xiaoliu Shi; Yan Yi

doi:10.1111/bjh.14456

CSF3R T618I, ASXL1 G942 fs and STAT5B N642H trimutation co-contribute to a rare chronic neutrophilic leukaemia manifested by rapidly progressive leucocytosis, severe infections, persistent fever and deep venous thrombosis

Br J Haematol. 2018 Mar;180(6):892-894. doi: 10.1111/bjh.14456. Epub 2016 Dec 16.

Authors

Qianhui Luo¹, Jiankai Shen¹, Yuan Yang², Haiyan Tang², Meng Shi³, Jun Liu⁴, Zhonghua Liu⁵, Xiaoliu Shi², Yan Yi¹

Affiliations

¹ Department of Haematology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
² Department of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
³ Department of Ophthalmology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
⁴ Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
⁵ National and Local Joint Engineering Laboratory for Animal Peptide Drug development, College of Life Sciences, Huan Normal University, Changsha, Hunan Province, China.

PMID: 27984641
DOI: 10.1111/bjh.14456

No abstract available

Keywords: chronic neutrophilic leukaemia; colony-stimulating factor 3 receptor; differential diagnosis; next generation sequencing; pathogenic mutation.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Female
Fever / genetics*
Fever / pathology
Humans
Infections / genetics*
Infections / pathology
Leukemia, Neutrophilic, Chronic / genetics*
Leukemia, Neutrophilic, Chronic / pathology
Leukocytosis / genetics*
Leukocytosis / pathology
Middle Aged
Neoplasm Proteins / genetics*
Receptors, Colony-Stimulating Factor / genetics*
Repressor Proteins / genetics*
STAT5 Transcription Factor / genetics*
Venous Thrombosis / genetics*
Venous Thrombosis / pathology

Substances

ASXL1 protein, human
CSF3R protein, human
Neoplasm Proteins
Receptors, Colony-Stimulating Factor
Repressor Proteins
STAT5 Transcription Factor
STAT5B protein, human