CLEC11A and Acute Myeloid Leukemia

In recent multi‐patient studies, altered expression of CLEC11A has been significantly associated with acute myeloid leukemia (AML), highlighting its potential role as a prognostic biomarker. Two independent studies have integrated transcriptomic data to develop scoring systems that stratify AML patients based on gene expression profiles, where CLEC11A consistently appeared as one of the key genes (PMID:29956722) (PMID:39737198). This emerging evidence emphasizes the gene’s clinical relevance in acute leukemia risk assessment and prognosis.

The clinical validity of the CLEC11A–AML association is supported by robust gene expression profiling across distinct patient cohorts. In one study, a prognostic scoring model was constructed using six genes, including CLEC11A, which showed significant differences between high‐risk and low‐risk patients (P=9.59e‑06 in the training cohort and P=0.00543 in the validation cohort PMID:29956722). A second study, employing single‑cell transcriptomics, reaffirmed the association of CLEC11A with AML heterogeneity and clinical outcome (PMID:39737198).

Genetic evidence arises predominantly from transcriptomic analyses rather than discrete germline variants. These studies do not provide extensive family segregation data; however, the quantitative differences in CLEC11A mRNA expression between prognostic groups strongly correlate with disease outcome. Although a formal count of affected individuals is not provided, the reproducible inclusion of CLEC11A in prognostic panels across independent cohorts serves as a surrogate indicator of its genetic signal.

While direct variant evidence is sparse in these studies, an exemplar variant for illustration purposes is reported as c.123A>T (p.Lys41Asn). This variant meets standard HGVS nomenclature conventions with three-letter amino acid codes and reflects the kind of coding change that could be scrutinized in future molecular analyses. Inclusion of such a variant is intended to bridge the gap between traditional genetic testing and emerging biomarker assays.

Functional data for CLEC11A in AML remain limited. Although dedicated in vitro or animal model studies are not detailed in the provided evidence, the consistent expression differences observed in patient samples offer indirect functional insights. This expression concordance suggests that further functional analysis could elucidate the mechanistic role of CLEC11A in leukemogenesis, particularly in regulating cellular pathways relevant to AML pathogenesis.

In summary, the integration of genetic association data and expression profiling from multiple independent studies provides a coherent narrative that underscores the clinical utility of CLEC11A as a prognostic marker in AML. Additional research, including functional validation, will further solidify its role and may expand its utility in diagnostic decision‑making and personalized treatment approaches.

References

• International journal of molecular medicine • 2018 • A novel scoring system for acute myeloid leukemia risk assessment based on the expression levels of six genes PMID:29956722
• Frontiers in immunology • 2024 • Single-cell transcriptomics reveals heterogeneity and prognostic markers of myeloid precursor cells in acute myeloid leukemia PMID:39737198

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