Normand Adeline, Le Bris Yannick, Loussouarn Delphine, Gournay Jérôme, Mosnier Jean-François
Department of Pathology, Hotel Dieu, 1 Place Ricordeau, CHU de Nantes, 44093, Nantes Cedex, France.
Department of Haematology Biology, Hotel Dieu, CHU de Nantes, Nantes, France.
Virchows Arch. 2025 Mar;486(3):491-497. doi: 10.1007/s00428-024-03844-2. Epub 2024 Jun 14.
Herein is reported a series of five patients with myeloid neoplasms presenting hepatic complications in whose liver biopsy revealed obstruction of sinusoids by platelet aggregates associated to liver extramedullary haematopoiesis. Indication of liver biopsies was jaundice, unexplained hepatomegaly or portal hypertension. Haematological disorders were classified according to the World Health Organisation. Molecular profile was established in all cases as well as grade of liver extramedullary haematopoiesis and myelofibrosis. The patients were four men and one woman aged from 50 to 82 years. Two patients had myeloproliferative neoplasm (triple negative primary myelofibrosis and JAK2-mutated essential thrombocytopenia), two patients had unclassifiable myelodysplastic/myeloproliferative neoplasm and one patient had chronic myelomonocytic leukaemia type 1. Liver biopsies revealed platelet aggregates occluding sinusoids in association with extramedullary haematopoiesis grade 1 in one patient, grade 2 in two patients and grade 3 in two patients. Two of these patients presented co-existing liver fibrosis due to chronic alcoholic consumption and ischemic heart failure. These five patients died from 2 to 23 months after liver biopsy due to acute myeloblastic leukaemia (three patients), portal hypertension (one patient) or other causes (acute heart failure). Intrahepatic sinusoidal microthromboses through platelet aggregates might cause portal hypertension or liver deficiency in patients with myeloid neoplasms, independently of JAK2 mutational status and grade of extramedullary haematopoiesis.
本文报告了5例患有骨髓肿瘤并出现肝脏并发症的患者，其肝活检显示肝血窦被与肝外造血相关的血小板聚集体阻塞。肝活检的指征为黄疸、不明原因的肝肿大或门静脉高压。血液系统疾病根据世界卫生组织进行分类。所有病例均确定了分子谱以及肝外造血和骨髓纤维化的程度。患者为4名男性和1名女性，年龄在50至82岁之间。2例患者患有骨髓增殖性肿瘤（三阴性原发性骨髓纤维化和JAK2突变的原发性血小板增多症），2例患者患有无法分类的骨髓增生异常/骨髓增殖性肿瘤，1例患者患有1型慢性粒单核细胞白血病。肝活检显示，1例患者的血小板聚集体阻塞血窦，同时伴有1级肝外造血，2例患者为2级，2例患者为3级。其中2例患者因长期酗酒和缺血性心力衰竭并存肝纤维化。这5例患者在肝活检后2至23个月死亡，原因分别为急性髓细胞白血病（3例）、门静脉高压（1例）或其他原因（急性心力衰竭）。骨髓肿瘤患者肝内通过血小板聚集体形成的血窦微血栓可能导致门静脉高压或肝功能不全，这与JAK2突变状态和肝外造血程度无关。
