Langabeer Stephen E, Haslam Karl, O'Brien David, Kelly Johanna, Andrews Claire, Ryan Ciara, Flavin Richard, Hayden Patrick J, Bacon Christopher L
Cancer Molecular Diagnostics, St. James's Hospital, Dublin 8, Ireland.
Department of Haematology, St. James's Hospital, Dublin 8, Ireland.
Case Rep Hematol. 2016;2016:6545861. doi: 10.1155/2016/6545861. Epub 2016 Jan 21.
The development of acute lymphoblastic leukemia in an existing myeloproliferative neoplasm is rare with historical cases unable to differentiate between concomitant malignancies or leukemic transformation. Molecular studies of coexisting JAK2 V617F-positive myeloproliferative neoplasms and mature B cell malignancies indicate distinct disease entities arising in myeloid and lymphoid committed hematopoietic progenitor cells, respectively. Mutations of CALR in essential thrombocythemia appear to be associated with a distinct phenotype and a lower risk of thrombosis yet their impact on disease progression is less well defined. The as yet undescribed scenario of pro-B cell acute lymphoblastic leukemia arising in CALR mutated essential thrombocythemia is presented. Intensive treatment for the leukemia allowed for expansion of the original CALR mutated clone. Whether CALR mutations in myeloproliferative neoplasms predispose to the acquisition of additional malignancies, particularly lymphoproliferative disorders, is not yet known.
在现有的骨髓增殖性肿瘤中发生急性淋巴细胞白血病很罕见,以往的病例无法区分是合并恶性肿瘤还是白血病转化。对同时存在的JAK2 V617F阳性骨髓增殖性肿瘤和成熟B细胞恶性肿瘤的分子研究表明,它们分别起源于髓系和淋巴系定向造血祖细胞的不同疾病实体。原发性血小板增多症中CALR的突变似乎与一种独特的表型和较低的血栓形成风险相关,但其对疾病进展的影响尚不清楚。本文介绍了在CALR突变的原发性血小板增多症中出现的原B细胞急性淋巴细胞白血病这一尚未描述的情况。对白血病的强化治疗导致了原始CALR突变克隆的扩增。骨髓增殖性肿瘤中的CALR突变是否易导致获得其他恶性肿瘤,尤其是淋巴增殖性疾病,目前尚不清楚。