Article
In utero origin of myelofibrosis presenting in adult monozygotic twins.
Nature medicine - 1 Jun 2022
Sousos Nikolaos, Ní Leathlobhair Máire, Simoglou Karali Christina, Louka Eleni, Bienz Nicola, Royston Daniel, Clark Sally-Ann, Hamblin Angela, Howard Kieran, Mathews Vikram, George Biju, Roy Anindita, Psaila Bethan, Wedge David C, Mead Adam J
Abstract excerpt
The latency between acquisition of an initiating somatic driver mutation by a single-cell and clinical presentation with cancer is largely unknown. We describe a remarkable case of monozygotic twins presenting with CALR mutation-positive myeloproliferative neoplasms (MPNs) (aged 37 and 38 years), with a clinical phenotype of primary myelofibrosis. The CALR mutation was absent in T cells and dermal fibroblasts,...
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