CSF3R-mutant chronic myelomonocytic leukemia is a distinct clinically subset with abysmal prognosis: a case report and systematic review of the literature

Guastafierro, Vincenzo; Ubezio, Marta; Manes, Nicla; Milanesi, Chiara; Porta, Matteo Giovanni Della; Bonometti, Arturo

doi:10.1080/10428194.2023.2227750

Cited by 4 publications

(2 citation statements)

References 39 publications

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“…Somatic mutations of the CSF3R gene have also been reported in small secondary clones [10]. At the same time, CSF3R mutations have been widely reported in CNL [5,11], which shares some morphological clinical and molecular traits with CMML [12]. CSF3R mutations have been included in the CNL diagnostic criteria according to the WHO classification.…”

Section: Discussionmentioning

confidence: 99%

“…CSF3R mutations have been included in the CNL diagnostic criteria according to the WHO classification. Specifically, the somatic T618I mutation is a hallmark of CNL and atypical chronic myeloid leukemia (aCML) [13], whereas, to date, about twenty cases of CMML carrying T618I have been reported [10,12]. T618I localizes in the fibronectin-like type III domain and has a well-known oncogenic potential [11,14,15].…”

Section: Discussionmentioning

confidence: 99%

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Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

Bochicchio,

Micucci,

Asioli

et al. 2023

IJMS

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Chronic myelomonocytic leukemia (CMML) is a hematological neoplasm characterized by monocytosis, splenomegaly, thrombocytopenia, and anemia. Moreover, it is associated with SRSF2 mutations and, rarely, with CSF3R variants. We present the case of an 84-year-old patient with persistent anemia and monocytosis. Due to the presence of dysmorphic granulocytes, monocyte atypia, and myeloid precursors in the peripheral blood cells, the patient was subjected to a bone marrow examination. The diagnosis was consistent with CMML type 2. The Hemocoagulative test showed an increase in fibrinolysis markers. Next-generation targeted sequencing showed TET2 and SRSF2 mutations, along with an unexpected CSF3R germline missense variant, rarely encountered in CMML. The patient started Azacitidine treatment and achieved normal hemostatic process values. In conclusion, we identified a heterozygous germline mutation that, together with TET2 and SRSF2 variants, was responsible for the hemorrhagic manifestation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

Bochicchio,

Micucci,

Asioli

et al. 2023

IJMS

View full text Add to dashboard Cite

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CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia

Mohamed,

Gao,

Chen

et al. 2024

Human Pathology

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Germline Predisposition to Hematopoietic Malignancies: An Overview

Haribabu,

Bhote,

Godley

2024

Annual Review of Cancer Biology

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Deleterious germline variants are now recognized as common drivers of hematopoietic malignancies (HMs) and bone marrow failure syndromes. With the increasing use of personalized medicine and the application of tumor-based profiling via next-generation sequencing, diagnosis of HM predisposition occurs with increasing frequency. Although deleterious germline variants can be readily identified by comprehensive clinical testing, numerous barriers exist for many clinicians. Observations regarding particular germline predisposition disorders challenge widely held assumptions about these conditions. Here, we review approaches to germline genetic testing, highlighting key points in a typical patient's course that present challenges for testing and interpreting results. Increasing awareness by health care providers of these conditions and improvements in testing platforms are crucial for enabling a proactive approach to tailoring a suitable treatment plan and surveillance program for the patient and their family members.

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CSF3R-mutant chronic myelomonocytic leukemia is a distinct clinically subset with abysmal prognosis: a case report and systematic review of the literature

Cited by 4 publications

References 39 publications

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

Germline CSF3R Variant in Chronic Myelomonocytic Leukemia: Linking Genetic Predisposition to Uncommon Hemorrhagic Symptoms

CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia

Germline Predisposition to Hematopoietic Malignancies: An Overview

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