CEACAM8 – Essential Thrombocythemia

The association between CEACAM8 and essential thrombocythemia is supported by transcriptomic analyses from two independent studies (PMID:27579896, PMID:37550636). In the 2016 study, a 7‑gene signature that included CEACAM8 distinguished early prefibrotic myelofibrosis from genuine essential thrombocythemia with a sensitivity of 100% and specificity of 89%, albeit based on modest patient cohorts (17 ET and 9 PMF patients PMID:27579896). This differential expression pattern highlights its potential utility in diagnostic stratification, even though no pathogenic variants or familial segregation data were reported.

Genetic evidence for CEACAM8 in this context is derived solely from its differential mRNA expression in patient samples, with no reported coding variants (i.e. no c. HGVS changes available). Functional evidence remains limited to expression profiling and pathway analyses, and direct functional assays or animal models have not yet been undertaken. Overall, while the data suggest that CEACAM8 is a promising component of a diagnostic gene signature for essential thrombocythemia, further mechanistic studies and functional validations are needed. Key take‑home: CEACAM8’s altered expression may serve as a useful biomarker to enhance diagnostic decision‑making in essential thrombocythemia.

References

• PloS One • 2016 • A 7‑Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis PMID:27579896
• BMC Genomic Data • 2023 • Transcriptomic Comparison of Bone Marrow CD34+ Cells and Peripheral Blood Neutrophils from ET Patients with JAK2 or CALR Mutations PMID:37550636

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