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However, the spectrum and consequences of acquired changes in paediatric patients have not been fully evaluated, and especially not in the context of an underlying syndrome. We incorporated a targeted next\u2010generation\u2010sequencing panel of 54 genes for the detection of somatic mutations in paediatric and young adult patients with inherited or acquired cytopenias. Sixty\u2010five patients were included in this study, of whom 17 (26%) had somatic mutations. We detected somatic mutations in 20% of individuals with inherited MDS\u2010predisposition syndromes, including in patients with severe congenital neutropenia and Fanconi anaemia, and with germline mutations in <jats:italic>SAMD9L<\/jats:italic>. Thirty\u2010eight per cent of children with acquired cytopenias and suspected MDS had somatic changes, most commonly in genes related to signal transduction and transcription. Molecularly abnormal clones often preceded cytogenetic changes. Thus, routine performance of somatic panels can establish the diagnosis of MDS and determine the optimal timing of haematopoietic stem cell transplantation, prior to the development of leukaemia. In addition, performing somatic panels in patients with inherited MDS\u2010predisposition syndromes may reveal their unique spectrum of acquired mutations.<\/jats:p>","DOI":"10.1111\/bjh.17285","type":"journal-article","created":{"date-parts":[[2020,12,27]],"date-time":"2020-12-27T20:55:55Z","timestamp":1609102555000},"page":"570-580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Incorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias"],"prefix":"10.1111","volume":"193","author":[{"given":"Sharon","family":"Noy\u2010Lotan","sequence":"first","affiliation":[{"name":"Pediatric Hematology Laboratory Felsenstein Medical Research Center Petach Tikva 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