title: Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis.
abstract: We examined a consecutive series of 29 patients with myeloproliferative neoplasms (MPNs) associated with splanchnic vein thrombosis (SVT) in order to evaluate their bone marrow morphology and identify possible associations between histological findings and clinical features. Eleven patients showed the morphological features of polycythemia vera (PV), 11 of primary myelofibrosis (PMF) and six of essential thrombocythemia (ET). Molecular analyses identified the JAK2 V617F mutation in 27 patients; one of the JAK2-negative patients carried the MPL W515K mutation, the other was "triple-negative" (no JAK2, MPL or CALR mutation). On the basis of the WHO classification, three patients were classified as having PV, 11 as having PMF, and two as having ET; the remaining 13 cases fell into the MPN-unclassifiable category as there were discrepancies between their morphological and clinical features. In conclusion, our findings suggest that bone marrow histology should always be considered a key component of the diagnostic algorithm in patients with SVT, but that it is not enough to distinguish the different entities. This is particularly important because diagnoses of PV, PMF or ET have very different prognoses and obviously imply different therapies. It is therefore necessary to adopt a comprehensive approach that considers morphological, clinical and molecular data.
authors.affiliation: Hematopathology Service, Division of Pathology, Department of Pathophysiology and Transplantation, University of Milan and IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: umberto.gianelli@unimi.it.
authors.forename: Umberto
authors.initials: U
authors.lastname: Gianelli
authors.affiliation: Oncohematology of the Elderly Unit, Oncohematology Division, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: aiurlo@policlinico.mi.it.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Iurlo
authors.affiliation: Oncohematology Division, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation and University of Milan, Milan, Italy. Electronic address: cattaneo.daniele@alice.it.
authors.forename: Daniele
authors.initials: D
authors.lastname: Cattaneo
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address: anna.bossi@unimi.it.
authors.forename: Anna
authors.initials: A
authors.lastname: Bossi
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address: ivan.cortinovis@unimi.it.
authors.forename: Ivan
authors.initials: I
authors.lastname: Cortinovis
authors.affiliation: Division of Pathology, Department of Pathophysiology and Transplantation, University of Milan and IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: claudia.augello@unimi.it.
authors.forename: Claudia
authors.initials: C
authors.lastname: Augello
authors.affiliation: Division of Pathology, San Paolo Hospital, Milan, Italy. Electronic address: alessia.moro@ao-sanpaolo.it.
authors.forename: Alessia
authors.initials: A
authors.lastname: Moro
authors.affiliation: Division of Pathology, San Paolo Hospital, Milan, Italy. Electronic address: federica.savi@ao-sanpaolo.it.
authors.forename: Federica
authors.initials: F
authors.lastname: Savi
authors.affiliation: Department of Medicine and Medical Specialities, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address: roberto.castelli@unimi.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: Castelli
authors.affiliation: Division of Pathology, Department of Pathophysiology and Transplantation, University of Milan and IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: cecilia.brambilla@unimi.it.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Brambilla
authors.affiliation: Oncohematology Division, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation and University of Milan, Milan, Italy. Electronic address: paola.bianchi@policlinico.mi.it.
authors.forename: Paola
authors.initials: P
authors.lastname: Bianchi
authors.affiliation: First Division of Gastroenterology, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: massimo.primignani@policlinico.mi.it.
authors.forename: Massimo
authors.initials: M
authors.lastname: Primignani
authors.affiliation: Oncohematology Division, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation and University of Milan, Milan, Italy. Electronic address: agostino.cortelezzi@unimi.it.
authors.forename: Agostino
authors.initials: A
authors.lastname: Cortelezzi
authors.affiliation: Division of Pathology, Department of Pathophysiology and Transplantation, University of Milan and IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy. Electronic address: silvano.bosari@unimi.it.
authors.forename: Silvano
authors.initials: S
authors.lastname: Bosari
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000473:pathology*; D006502:Budd-Chiari Syndrome / Q000150:complications / Q000453:epidemiology / Q000473:pathology; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D008297:Male; D065666:Mesenteric Ischemia / Q000150:complications / Q000453:epidemiology / Q000473:pathology; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology*; D010641:Phenotype; D011169:Portal Vein / Q000473:pathology; D012189:Retrospective Studies; D013152:Splanchnic Circulation; D013162:Splenic Vein / Q000473:pathology; D020246:Venous Thrombosis / Q000150:complications* / Q000453:epidemiology / Q000473:pathology*; D055815:Young Adult
chemical_list: C581634:BCR-ABL1 fusion protein, human; D016044:Fusion Proteins, bcr-abl
keywords: Bone marrow morphology; Essential thrombocythemia; Myeloproliferative neoplasm; Polycythemia vera; Primary myelofibrosis; Splanchnic vein thrombosis