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Eighty-year-old Man with Rare Chronic Neutrophilic Leukemia Caused by T618I Mutation: A Case Report and Review of Literature

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Specialty General Medicine
Date 2021 Jan 4
PMID 33392315
Citations 3
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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 gene as one of the diagnostic criteria, with 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 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 [ 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 are important clues to CNL diagnosis.

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References
1.
Maxson J, Gotlib J, Pollyea D, Fleischman A, Agarwal A, Eide C . Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 2013; 368(19):1781-90. PMC: 3730275. DOI: 10.1056/NEJMoa1214514. View

2.
Zhang B, Chen Y, Lv J, Yang Y . Comparison of the Efficacy of Nilotinib and Imatinib in the Treatment of Chronic Myeloid Leukemia. J Coll Physicians Surg Pak. 2019; 29(7):631-634. DOI: 10.29271/jcpsp.2019.07.631. View

3.
Itonaga H, Ota S, Ikeda T, Taji H, Amano I, Hasegawa Y . Allogeneic hematopoietic stem cell transplantation for the treatment of BCR-ABL1-negative atypical chronic myeloid leukemia and chronic neutrophil leukemia: A retrospective nationwide study in Japan. Leuk Res. 2018; 75:50-57. DOI: 10.1016/j.leukres.2018.11.003. View

4.
Vardiman J, Lee Harris N, Brunning R . The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002; 100(7):2292-302. DOI: 10.1182/blood-2002-04-1199. View

5.
Wu X, Wei Wu W, Zhou Y, Wang X, Li J, Yu Y . Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review. BMC Cancer. 2018; 18(1):343. PMC: 5870516. DOI: 10.1186/s12885-018-4236-6. View