Diagnosis, complications and management of chronic neutrophilic leukaemia: A case report

Silva, Patrícia Rocha; Ferreira, Cristina; Bizarro, Susana; Cerveira, Nuno; Torres, Lurdes; Moreira, Ilídia; Mariz, José

doi:10.3892/ol.2015.3148

Cited by 9 publications

(9 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Paradoxically other studies have shown attenuated intracellular bactericidal activity in CNL 25 , 30 . Whether this biological phenomenon translates clinically to an increased propensity for infection in CNL patients is not clear 31 , 32 .…”

Section: Neutrophil Morphologymentioning

confidence: 99%

Chronic neutrophilic leukemia: new science and new diagnostic criteria

Szuber

Tefferi

2018

Blood Cancer Journal

View full text Add to dashboard Cite

Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm defined by persistent, predominantly mature neutrophil proliferation, marrow granulocyte hyperplasia, and frequent splenomegaly. The seminal discovery of oncogenic driver mutations in CSF3R in the majority of patients with CNL in 2013 generated a new scientific framework for this disease as it deepened our understanding of its molecular pathogenesis, provided a biomarker for diagnosis, and rationalized management using novel targeted therapies. Consequently, in 2016, the World Health Organization (WHO) revised the diagnostic criteria for CNL to reflect such changes in its genomic landscape, now including the presence of disease-defining activating CSF3R mutations as a key diagnostic component of CNL. In this communication, we provide a background on the history of CNL, its clinical and hemopathologic features, and its molecular anatomy, including relevant additional genetic lesions and their significance. We also outline the recently updated WHO diagnostic criteria for CNL. Further, the natural history of the disease is reviewed as well as potential prognostic variables. Finally, we summarize and discuss current treatment options as well as prospective novel therapeutic targets in hopes that they will yield meaningful improvements in patient management and outcomes.

show abstract

Section: Neutrophil Morphologymentioning

confidence: 99%

Chronic neutrophilic leukemia: new science and new diagnostic criteria

Szuber

Tefferi

2018

Blood Cancer Journal

View full text Add to dashboard Cite

show abstract

“…Neutrophil toxic granulations and Dohle bodies, though non‐specific and more frequently observed in neutrophilic leukemoid reactions, are not uncommon findings in CNL, and may suggest an activated neutrophil state . Reports pertaining to neutrophil function are inconsistent with some demonstrating increased vs attenuated bactericidal activity, and an unclear association with propensity to infection …”

Section: Disease Features and Diagnosismentioning

confidence: 88%

Chronic neutrophilic leukemia: 2020 update on diagnosis, molecular genetics, prognosis, and management

2019

View full text Add to dashboard Cite

Disease overview: Chronic neutrophilic leukemia (CNL) is a rare, often aggressive myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis, bone marrow granulocyte hyperplasia, and frequent hepatosplenomegaly. The seminal discovery of oncogenic driver mutations in colony-stimulating factor 3 receptor (CSF3R) in the majority of patients with CNL in 2013 anchored a new scientific framework, deepening our understanding of its molecular pathogenesis, providing a diagnostic biomarker, and rationalizing the use of pharmacological targeting. Diagnostic criteria: In 2016, the World Health Organization (WHO) included the presence of activating CSF3R mutations as a central diagnostic feature of CNL. Other criteria include leukocytosis of ≥25 × 10 9 /L comprising >80% neutrophils with <10% circulating precursors and rare blasts, and absence of dysplasia or monocytosis, while not fulfilling criteria for other MPN.Disease updates: Increasingly comprehensive genetic profiling of CNL has disclosed a complex genomic landscape and additional prognostically relevant mutational combinations. Though prognostic determination and therapeutic decision-making remain challenging, emerging data on prognostic markers and the use of newer therapeutic agents, such as JAK inhibitors, are helping to define state-of-the-art management in CNL.

show abstract

“…Lymphadenopathy and hepatomegaly are not common[ 12 ]. Hepatosplenomegaly, one of the main features of CNL, is a key indicator to distinguish leukemoid reaction from CNL[ 13 , 14 ]. Most patients with CNL have hepatosplenomegaly at the time of diagnosis, but hepatosplenomegaly is not common in the pathological manifestations of leukemoid reaction.…”

Section: Discussionmentioning

confidence: 99%

Eighty-year-old man with rare chronic neutrophilic leukemia caused byCSF3RT618I mutation: A case report and review of literature

Li¹,

Chen²,

Ye³

et al. 2020

WJCC

View full text Add to dashboard Cite

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.

show abstract

Diagnosis, complications and management of chronic neutrophilic leukaemia: A case report

Cited by 9 publications

References 33 publications

Chronic neutrophilic leukemia: new science and new diagnostic criteria

Chronic neutrophilic leukemia: new science and new diagnostic criteria

Chronic neutrophilic leukemia: 2020 update on diagnosis, molecular genetics, prognosis, and management

Eighty-year-old man with rare chronic neutrophilic leukemia caused byCSF3RT618I mutation: A case report and review of literature

Contact Info

Product

Resources

About