IN UTERO ORIGIN OF MYELOFIBROSIS PRESENTING IN ADULT MONOZYGOTIC TWINS AFTER A PROLONGED DISEASE LATENCY
收藏NIAID Data Ecosystem2026-03-13 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001005744
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The latency between initiating somatic cancer driver mutation acquisition by a single cell and clinical presentation is largely unknown. We present a remarkable case of monozygotic twins presenting with CALR mutation-positive myeloproliferative neoplasms (MPNs) aged 37 and 38. Whole genome sequencing lineage-tracing revealed a common clonal origin of the CALR-mutant MPN clone, which occurred in utero followed by twin-to-twin transplacental transmission. Index sorting and single-colony genotyping revealed phenotypic hematopoietic stem cells (HSCs) as the likely MPN-propagating cell. This case provides a unique window into the prolonged evolutionary dynamics of MPNs and fitness advantage exerted by MPN-associated driver mutations in HSCs.EGA study EGAS00001005744
创建时间：
2022-02-21
