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Review
. 2025 Sep;122(3):351-357.
doi: 10.1007/s12185-024-03878-x. Epub 2024 Dec 6.

Clonal hematopoiesis in cancer predisposition syndromes

Kenichi Yoshida  1
Affiliations
Review

Clonal hematopoiesis in cancer predisposition syndromes

Kenichi Yoshida. Int J Hematol. 2025 Sep.

Abstract

After recent advances in sequencing technologies led to the discovery of novel genes associated with predisposition to hematological malignancies, studies have now shown that myeloid neoplasms associated with germline variants are more common than previously estimated. Based on these findings, myeloid neoplasms with germline predisposition have emerged as a unique category in the recent World Health Organization classification of Haematolymphoid Tumors. Clonal hematopoiesis is common in healthy individuals, particularly in older people. In patients with germline predisposition to hematological malignancies, clonal hematopoiesis is frequently observed at younger ages and is often associated with unique disease-specific driver mutations, some of which are hypothesized to compensate for the inherited defect. This review summarizes recent findings on clonal hematopoiesis in cancer predisposition syndromes.

Keywords: Clonal hematopoiesis; Genetic rescue; Germline predisposition; Maladaptive.

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Conflict of interest statement

Declarations. Conflict of interest: The author has nothing to declare in relation to the content of this paper’s presentation.

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MeSH terms

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