Klonale Hämatopoese (CHIP) und klonale Zytopenie unbestimmter Signifikanz (CCUS)

In der 5. Auflage der WHO-Klassifikation für hämatologische Neoplasien wurden im Jahr 2022 erstmals die klonale Hämatopoese, die klonale Hämatopoese von unbestimmtem Potenzial und die klonale Zytopenie unbestimmter Signifikanz als eigenständige Entitäten im Spektrum der myeloischen Neoplasien mit aufgenommen [1]. Entsprechend stellt sich die Frage, welche praktische Relevanz diese Veränderungen bereits jetzt für den klinischen Alltag haben.

Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) refers to the outgrowth of blood cells from a hematopoietic stem cell (HSC) clone that acquired one or more somatic mutations, leading to a growth advantage compared to wild type HSCs. In the last years this age-associated phenomenon has been extensively studied, and several cohort studies found association between CH and age-related diseases, esp. leukaemia and cardiovascular disease. For patients with CH present with abnormal blood counts, the term ‘clonal cytopenia of unknown significance’ is used, which carries a higher risk for developing myeloid neoplasms. In this year, CHIP and CCUS have been included in the updated WHO classification of hematolymphoid tumours. We review the current understanding of the emergence of CHIP, diagnostics, association with other diseases, and potential therapeutic interventions.

Kernaussagen

• CH und CHIP beschreiben das (vorwiegend altersabhängige) Auftreten von Mutationen in hämatopoetischen Stammzellen und eine damit verbundene Expansion dieser Klone im Knochenmark und im peripheren Blut.

• CHIP ist mit einem breiten Spektrum altersbedingter Erkrankungen assoziiert und führt zu einer verstärkten inflammatorischen Reaktion.

• CHIP und insbesondere CCUS gehen mit einem erhöhten Risiko für eine hämatologische Neoplasie einher.

• Bei Patienten mit soliden Tumoren und CHIP kann, abhängig von der vorliegenden Mutation, das Risiko für eine therapieassoziierte hämatologische Neoplasie deutlich gesteigert sein.

• Aktuell gibt es keine evidenzbasierten Empfehlungen für ein Screening oder eine Therapie von CHIP und CCUS.

Schlüsselwörter

CHIP - CCUS - AML - Inflammaging

Keywords

CHIP - CCUS - AML - inflammaging

Publication History

Article published online:
29 March 2023

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