Gianelli Umberto, Iurlo Alessandra, Cattaneo Daniele, Bossi Anna, Cortinovis Ivan, Augello Claudia, Moro Alessia, Savi Federica, Castelli Roberto, Brambilla Cecilia, Bianchi Paola, Primignani Massimo, Cortelezzi Agostino, Bosari Silvano
Hematopathology Service, Division of Pathology, Department of Pathophysiology and Transplantation, University of Milan and IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy.
Oncohematology of the Elderly Unit, Oncohematology Division, IRCCS Ca' Granda - Maggiore Policlinico Hospital Foundation, Milan, Italy.
Leuk Res. 2015 May;39(5):525-9. doi: 10.1016/j.leukres.2015.03.009. Epub 2015 Mar 19.
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.
我们对连续的29例与内脏静脉血栓形成（SVT）相关的骨髓增殖性肿瘤（MPN）患者进行了检查，以评估其骨髓形态，并确定组织学结果与临床特征之间可能存在的关联。11例患者表现为真性红细胞增多症（PV）的形态学特征，11例为原发性骨髓纤维化（PMF），6例为原发性血小板增多症（ET）。分子分析在27例患者中鉴定出JAK2 V617F突变；1例JAK2阴性患者携带MPL W515K突变，另1例为“三阴性”（无JAK2、MPL或CALR突变）。根据世界卫生组织（WHO）分类，3例患者被归类为PV，11例为PMF，2例为ET；其余13例因形态学和临床特征存在差异而属于MPN无法分类的类别。总之，我们的研究结果表明，骨髓组织学应始终被视为SVT患者诊断算法的关键组成部分，但仅靠它不足以区分不同的实体。这一点尤为重要，因为PV、PMF或ET的诊断具有非常不同的预后，显然意味着不同的治疗方法。因此，有必要采用一种综合方法，综合考虑形态学、临床和分子数据。
