Mutational landscape of chronic myelomonocytic leukemia in Chinese patients

Nie, Yanbo; Shao, Liang; Zhang, Hong; He, Colin K.; Li, Hongyu; Zou, Junyan; Chen, Long; Ji, Huaiyue; Tan, Hao; Lin, Yani; Ru, Kun

doi:10.1186/s40164-022-00284-z

Cited by 3 publications

(8 citation statements)

References 51 publications

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“…In the nontransplantation setting, somatic mutations in genes such as RUNX1, ASXL1, NRAS, and SETBP1 were independently associated with worse CMML survival. 6,[39][40][41][42][43] However, limited data are available regarding their impact on outcomes after allo-HSCT. Some research results indicate that ASXL1, KRAS, SF3B1, ZRSR2, DNMT3A, and TP53 mutations are associated with worse OS and disease-free survival (DFS) and higher NRM in CMML patients undergoing allo-HSCT.…”

Section: Discussionmentioning

confidence: 99%

“…In the nontransplantation setting, somatic mutations in genes such as RUNX1 , ASXL1 , NRAS , and SETBP1 were independently associated with worse CMML survival 6,39–43 . However, limited data are available regarding their impact on outcomes after allo‐HSCT.…”

Section: Discussionmentioning

confidence: 99%

“…According to CMML epidemiological statistics, almost 90% of cases occur in patients older than 60 years 4,35,50 . We reviewed the literatures on the age of CMML patients in Western (Germany, 29,30,51 France, 13,19,52 America, 8,11,12,15,17,20,25,26,28,40,53,54 Italy, 39,55 Greece, 14 and Denmark, 24 ) and Eastern countries (Japan 16,22,27 and China, 6,43,49,56–63 ), and the results showed that the median age of CMML patients in Eastern countries was younger (38–70 years vs. 44–73 years), and the median age of CMML patients undergoing allo‐HSCT was similar in Eastern and Western countries (38–63 years vs. 44–64 years). However, the age of CMML patients undergoing allo‐HSCT was lower in both Eastern and Western countries.…”

Section: Discussionmentioning

confidence: 99%

“…3,4 Chromosomal abnormalities have been reported in approximately 30% of CMML patients, 5 and more than 90% of patients have genetic abnormalities. 6 CMML patients with these abnormalities have a poorer OS and a higher risk of acute myeloid leukemia (AML) evolution.…”

Section: Introductionmentioning

confidence: 99%

“…The clinical presentation differs depending on whether the patient has myelodysplastic (frequent infections, bleeding, and anemia) or myeloproliferative (leukocytosis, splenomegaly, night sweats, weight loss, and bone pain) features 3,4 . Chromosomal abnormalities have been reported in approximately 30% of CMML patients, 5 and more than 90% of patients have genetic abnormalities 6 . CMML patients with these abnormalities have a poorer OS and a higher risk of acute myeloid leukemia (AML) evolution.…”

Section: Introductionmentioning

confidence: 99%

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Impact of a novel prognostic model on allogeneic hematopoietic stem cell transplantation outcomes in patients withCMML

Zhou,

Wang,

Yuan

et al. 2023

American J Hematol

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Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell malignancy, and allogeneic hematopoietic stem cell transplantation (allo‐HSCT) is the only curable treatment. The outcomes after transplant are influenced by both disease characteristics and patient comorbidities. To develop a novel prognostic model to predict the post‐transplant survival of CMML patients, we identified risk factors by applying univariable and multivariable Cox proportional hazards regression to a derivation cohort. In multivariable analysis, advanced age (hazard ratio [HR] 3.583), leukocyte count (HR 3.499), anemia (HR 3.439), bone marrow blast cell count (HR 2.095), and no chronic graft versus host disease (cGVHD; HR 4.799) were independently associated with worse survival. A novel prognostic model termed ABLAG (Age, Blast, Leukocyte, Anemia, cGVHD) was developed and the points were assigned according to the regression equation. The patients were categorized into low risk (0–1), intermediate risk (2, 3), and high risk (4–6) three groups and the 3‐year overall survival (OS) were 93.3% (95%CI, 61%–99%), 78.9% (95%CI, 60%–90%), and 51.6% (95%CI, 32%–68%; p < .001), respectively. In internal and external validation cohort, the area under the receiver operating characteristic (ROC) curves of the ABLAG model were 0.829 (95% CI, 0.776–0.902) and 0.749 (95% CI, 0.684–0.854). Compared with existing models designed for the nontransplant setting, calibration plots, and decision curve analysis showed that the ABLAG model revealed a high consistency between predicted and observed outcomes and patients could benefit from this model. In conclusion, combining disease and patient characteristic, the ABLAG model provides better survival stratification for CMML patients receiving allo‐HSCT.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Impact of a novel prognostic model on allogeneic hematopoietic stem cell transplantation outcomes in patients withCMML

Zhou,

Wang,

Yuan

et al. 2023

American J Hematol

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The impact of SETBP1 mutations in neurological diseases and cancer

Kohyanagi,

Ohama

2023

Genes to Cells

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SE translocation (SET) is a cancer‐promoting factor whose expression is upregulated in many cancers. High SET expression positively correlates with a poor cancer prognosis. SETBP1 (SET‐binding protein 1/SEB/MRD29), identified as SET‐binding protein, is the causative gene of Schinzel–Giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. Mutations in these genetic regions are also observed in some blood cancers, such as myelodysplastic syndromes, and are associated with a poor prognosis. However, the physiological role of SETBP1 and the molecular mechanisms by which the mutations lead to disease progression have not yet been fully elucidated. In this review, we will describe the current epidemiological data on SETBP1 mutations and shed light on the current knowledge about the SET‐dependent and ‐independent functions of SETBP1.

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Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

Castaño-Díez,

Guijarro,

López-Guerra

et al. 2024

Cancers

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Non-acute myeloid neoplasms (MNs) with NPM1 mutations (NPM1mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypical NPM1mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS. NPM1 mutations occur in 3–5% of CMML and 1–6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs with NPM1 mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact of NPM1 mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.

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Mutational landscape of chronic myelomonocytic leukemia in Chinese patients

Cited by 3 publications

References 51 publications

Impact of a novel prognostic model on allogeneic hematopoietic stem cell transplantation outcomes in patients withCMML

Impact of a novel prognostic model on allogeneic hematopoietic stem cell transplantation outcomes in patients withCMML

The impact of SETBP1 mutations in neurological diseases and cancer

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

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