PMID- 38016412 OWN - NLM STAT- MEDLINE DCOM- 20240129 LR - 20240212 IS - 1873-5835 (Electronic) IS - 0145-2126 (Linking) VI - 136 DP - 2024 Jan TI - The molecular landscape of myeloproliferative neoplasms associated with splanchnic vein thrombosis: Current perspective. PG - 107420 LID - S0145-2126(23)00685-9 [pii] LID - 10.1016/j.leukres.2023.107420 [doi] AB - BCR::ABL1-negative myeloproliferative neoplasms (MPNs) are classically represented by polycythemia vera, essential thrombocythemia, and primary myelofibrosis. BCR::ABL1-negative MPNs are significantly associated with morbidity and mortality related to an increased risk of thrombo-hemorrhagic events. They show a consistent association with splanchnic vein thrombosis (SVT), either represented by the portal, mesenteric or splenic vein thrombosis, or Budd-Chiari Syndrome. SVT is also a frequent presenting manifestation of MPN. MPNs associated with SVT show a predilection for younger women, high association with JAK2V617F mutation, low JAK2V617F variant allele frequency (generally <10 %), and low rates of CALR, MPL, or JAK2 exon 12 mutations. Next-Generation Sequencing techniques have contributed to deepening our knowledge of the molecular landscape of such cases, with potential diagnostic and prognostic implications. In this narrative review, we analyze the current perspective on the molecular background of MPN associated with SVT, pointing as well future directions in this field. CI - Copyright (c) 2023 The Authors. Published by Elsevier Ltd.. All rights reserved. FAU - Pescia, Carlo AU - Pescia C AD - Unit of Anatomic Pathology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address: carlo.pescia@unimi.it. FAU - Lopez, Gianluca AU - Lopez G AD - Unit of Anatomic Pathology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Italy. FAU - Cattaneo, Daniele AU - Cattaneo D AD - Hematology Division, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy. FAU - Bucelli, Cristina AU - Bucelli C AD - Hematology Division, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. FAU - Gianelli, Umberto AU - Gianelli U AD - Department of Health Sciences, University of Milan, Milan, Italy; Unit of Anatomic Pathology, ASST Santi Paolo e Carlo, Milan, Italy. FAU - Iurlo, Alessandra AU - Iurlo A AD - Hematology Division, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20231110 PL - England TA - Leuk Res JT - Leukemia research JID - 7706787 RN - 0 (Calreticulin) RN - EC 2.7.10.2 (Janus Kinase 2) SB - IM MH - Humans MH - Female MH - *Myeloproliferative Disorders/complications/genetics/diagnosis MH - *Venous Thrombosis/genetics MH - *Polycythemia Vera/complications MH - *Thrombocythemia, Essential/genetics MH - Mutation MH - Calreticulin/genetics MH - Janus Kinase 2/genetics OTO - NOTNLM OT - Molecular biology OT - Myeloid neoplasms OT - Myeloproliferative neoplasms OT - Splanchnic vein thrombosis COIS- Declaration of Competing Interest U.G. received fees from Novartis Farma S.p.A. and Jazz Pharma as a consultant speaker and advisory board. A.I. and D.C. receive speaker honoraria from Novartis Farma S.p.A. All other authors declare no conflict of interest. EDAT- 2023/11/29 00:42 MHDA- 2024/01/29 06:43 CRDT- 2023/11/28 18:11 PHST- 2023/06/26 00:00 [received] PHST- 2023/10/30 00:00 [revised] PHST- 2023/11/03 00:00 [accepted] PHST- 2024/01/29 06:43 [medline] PHST- 2023/11/29 00:42 [pubmed] PHST- 2023/11/28 18:11 [entrez] AID - S0145-2126(23)00685-9 [pii] AID - 10.1016/j.leukres.2023.107420 [doi] PST - ppublish SO - Leuk Res. 2024 Jan;136:107420. doi: 10.1016/j.leukres.2023.107420. Epub 2023 Nov 10.