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  • Writer's pictureDr Edin Hamzić

🩸 👩🏼‍🔬What is CHIP in Hematology?

Updated: Jan 22

  • ⚠️CHIP is an abbreviation for Clonal Hematopoiesis of Indeterminate Potential, and it corresponds to the presence of clonal molecular genetic or cytogenetic changes in blood or bone marrow cells.

  • These changes are specific to the distinct subpopulation of myeloid cells that have acquired (somatic) mutations and germline mutations that have an important role in CHIP development.

  • An important note is that CHIP is not malignant. Still, the term indeterminate in the name Clonal Hematopoiesis of Indeterminate Potential indicates the uncertainty of its potential and future potential transformation [citation].

  • In 2015, a formal definition of clonal hematopoiesis of indeterminate potential (CHIP) was proposed with the following qualifiers:

    • 1️⃣ CHIP must occur in the absence of morphological variation in blood cells

    • 2️⃣ a candidate driver gene mutation should be present at a variant allele frequency of at least 2% in peripheral blood and

    • 3️⃣ in the absence of diagnostic criteria for hematologic malignancy.

  • In ~80% of patients with Clonal Hematopoiesis of Indeterminate Potential (CHIP) have mutations in:

    • DNMT3A, TET2, and ASXL1, known as epigenetic regulators

    • PPM1D, TP53, known as DNA damage repair genes

    • JAK2, known as a gene encoding regulatory tyrosine kinase (more about this gene in this blog post here) or

    • SF3B1 and SRSF2, known as mRNA spliceosome components

  • DNMT3A, TET2, and ASXL1 mutations are also found in AML, hematological malignancy, and other diseases, so CHIP has a potential prognostic value for such medical events.


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