ArticleNature medicine2022
In utero origin of myelofibrosis presenting in adult monozygotic twins.
Article in Nature medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 55 citations in OpenAlex.
- Article
- Defining and predicting disease progression in myeloproliferative neoplasms: a proposed biomarker-driven approach.Leukemia · 2026Review
- Clonal memory of cell division in humans diverges between healthy haematopoiesis and acute myeloid leukaemia.Nature communications · 2026Article
- No evidence of immunosurveillance in mutation-hotspot-driven clonal hematopoiesis.Nature genetics · 2026Article
- A stem and progenitor cell-derived gene expression signature is prognostic for survival in myelofibrosis.Blood · 2026Article
- Ontogeny Dictates Oncogenic Potential, Lineage Hierarchy, and Therapy Response in Pediatric Leukemia.Cancer discovery · 2026Article
- Systematic functional dissection of germline noncoding risk variants impacting clonal hematopoiesis.bioRxiv : the preprint server for biology · 2026Article
- On the prenatal origins of the myeloproliferative neoplasms.EXCLI journal · 2026Article
- Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation.Science (New York, N.Y.) · 2026Article
- Article
- Challenges in the Evolving Role of Calreticulin as a Promising Target for Precision Medicine in Myeloproliferative Neoplasms.Cancers · 2025Review
- Clonal dynamics of monozygotic twinning in early human embryogenesis.bioRxiv : the preprint server for biology · 2025Article
- Mesenchymal stromal cells fromHemaSphere · 2025Article
- Deciphering the complex clonal heterogeneity of polycythemia vera and the response to interferon alfa.Blood advances · 2025Article
- New approaches to standard of care in early-phase myeloproliferative neoplasms: can interferon-α alter the natural history of the disease?Haematologica · 2025Review
- Prevention, diagnosis and management of myeloproliferative neoplasms: an introduction to a review series.Haematologica · 2025Article
- Different inflammatory, fibrotic, and immunological signatures between pre-fibrotic and overt primary myelofibrosis.Haematologica · 2025Article
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- High Mobility Group A1 Chromatin Keys: Unlocking the Genome During MPN Progression.International journal of molecular sciences · 2025Review
- Chronic Inflammation in Primary Myelofibrosis: In-Depth Insights Into Pathogenesis and Promising Anti-Inflammatory Therapeutic Strategies.Mediators of inflammation · 2025Review
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Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
Abstract
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, confirming somatic acquisition. 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 and subsequent similar disease latency. Index sorting and single-colony genotyping revealed phenotypic hematopoietic stem cells (HSCs) as the likely MPN-propagating cell. Furthermore, neonatal blood spot analysis confirmed in utero origin of the JAK2V617F mutation in a patient presenting with polycythemia vera (aged 34 years). These findings provide a unique window into the prolonged evolutionary dynamics of MPNs and fitness advantage exerted by MPN-associated driver mutations in HSCs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.