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Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature

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 disea...

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Autores principales: Li, Ya-Ping, Chen, Na, Ye, Xian-Mei, Xia, Yong-Shou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760438/
https://www.ncbi.nlm.nih.gov/pubmed/33392315
http://dx.doi.org/10.12998/wjcc.v8.i24.6337
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author Li, Ya-Ping
Chen, Na
Ye, Xian-Mei
Xia, Yong-Shou
author_facet Li, Ya-Ping
Chen, Na
Ye, Xian-Mei
Xia, Yong-Shou
author_sort Li, Ya-Ping
collection PubMed
description 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.
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spelling pubmed-77604382021-01-01 Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature Li, Ya-Ping Chen, Na Ye, Xian-Mei Xia, Yong-Shou World J Clin Cases Case Report 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. Baishideng Publishing Group Inc 2020-12-26 2020-12-26 /pmc/articles/PMC7760438/ /pubmed/33392315 http://dx.doi.org/10.12998/wjcc.v8.i24.6337 Text en ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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.
spellingShingle Case Report
Li, Ya-Ping
Chen, Na
Ye, Xian-Mei
Xia, Yong-Shou
Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title_full Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title_fullStr Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title_full_unstemmed Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title_short Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature
title_sort eighty-year-old man with rare chronic neutrophilic leukemia caused by csf3r t618i mutation: a case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760438/
https://www.ncbi.nlm.nih.gov/pubmed/33392315
http://dx.doi.org/10.12998/wjcc.v8.i24.6337
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