Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 26, 2020; 8(24): 6337-6345
Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6337
Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
Ya-Ping Li, Na Chen, Xian-Mei Ye, Yong-Shou Xia
Ya-Ping Li, Na Chen, Xian-Mei Ye, Yong-Shou Xia, Department of Hematology, Chang'an Hospital, Xi'an 710000, Shaanxi Province, China
Author contributions: Li YP was directly involved in the diagnosis and treatment of the disease and follow-up observation, recorded the clinical characteristics of the patient, followed the results of gene sequencing and laboratory tests, and drafted and revised the manuscript; Chen N assessed the academic and practical value of the case, analyzed the gene sequencing results and the laboratory testing results, collected image data, and revised the manuscript; Ye XM tracked the results of gene sequencing and laboratory tests, and collected the images and other information; Xia YS controlled and adjusted the treatment plan of this case, organized the consultation of specialists, was directly involved in the diagnosis and treatment of the disease and follow-up observation, and participated in the writing and modification of the article.
Informed consent statement: The patient provided informed written for publication of this case report and accompanying images.
Conflict-of-interest statement: The authors declare no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yong-Shou Xia, MBBS, Associate Chief Physician, Department of Hematology, Chang'an Hospital, No. 17 Wenjing Road, Weiyang District, Xi'an 710000, Shaanxi Province, China. xiayshca@163.com
Received: August 18, 2020
Peer-review started: August 18, 2020
First decision: September 13, 2020
Revised: October 2, 2020
Accepted: October 26, 2020
Article in press: October 26, 2020
Published online: December 26, 2020
Processing time: 123 Days and 7.9 Hours
Abstract
BACKGROUND

Chronic neutrophilic leukemia (CNL) is a rare bone marrow proliferative tumor and a heterogeneous disorder. In 2016, the World Health Organization included activating mutations in the CSF3R gene as one of the diagnostic criteria, with CSF3R T618I being the most common mutation. The disease is often accompanied by splenomegaly, but no developmental abnormalities and significant reticular fibrosis, and no Ph chromosome and BCR-ABL fusion gene. So, it is difficult to diagnose at the first presentation in the absence of classical symptoms. Herein we describe a rare CNL patient without splenomegaly whose initial diagnostic clue was neutrophilic hyperactivity.

CASE SUMMARY

The patient is an 80-year-old Han Chinese man who presented with one month of fatigue and fatigue aggravation in the last half of the month. He had no splenomegaly, but had persistent hypofibrinogenemia, obvious skin bleeding, and hemoptysis, and required repeated infusion of fibrinogen therapy. After many relevant laboratory examinations, histopathological examination, and sequencing analysis, the patient was finally diagnosed with CNL [CSF3R T618I positive: c.1853C>T (p.T618I) and c.2514T>A (p.C838)].

CONCLUSION

The physical examination and blood test for tumor-related genes are insufficient to establish a diagnosis of CNL. Splenomegaly is not that important, but hyperplasia of interstitial neutrophil system and activating mutations in CSF3R are important clues to CNL diagnosis.

Keywords: Chronic neutrophilic leukemia; Leukemia; Hyperplasia of interstitial neutrophil system; CSF3R; Case report; Hydroxyurea; Allopurinol

Core Tip: An 80-year-old man had a long history of interstitial pneumonia. His leukocyte levels were extremely high, while the fibrinogen and prothrombin activities were low. His urea, uric acid, and creatinine values were high, and there were reticulated fibers around the blood vessels, and bone marrow fibrosis was obvious. His granulocyte system was extremely hyperplastic. Importantly, our gene mutation test found that the CSF3R gene was mutated. Therefore, we eventually diagnosed his symptoms as chronic neutrophilic leukemia (CNL). The particularity of the case lies in that CNL is often accompanied by splenomegaly, but the patient had no splenomegaly.