Brattås Marte Karen, Lilleeng Kyrre, Hovland Randi, Lægreid Ingvild Jenssen, Vorland Marta, Leh Friedemann, Bruserud Øystein, Gjertsen Bjørn Tore, Reikvam Håkon
1Department of Medicine, Haraldsplass Deaconess Hospital, Bergen, Norway.
2Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Biomark Res. 2018 Nov 21;6:33. doi: 10.1186/s40364-018-0147-6. eCollection 2018.
A feature of myeloproliferative neoplasia is transforming to more aggressive and malignant myeloid neoplasia, including acute myeloid leukemia. Different pathogenesis mechanisms participate in transformation, including transformation of existing potential preleukemic clones, since -mutant myeloproliferative neoplasms often transform to wild-type acute myeloid leukemia.
Here, we present an 80 year old man with a -V617F mutant primary myelofibrosis. After 10 months the disease transform into a Philadelphia chromosome positive acute myeloid leukemia, detecting the cytogenetic aberration; t(9;22)(q34;q22) encoding the rare fusion gene; e6a2. The patient had treatment response to tyrosine kinases, illustrating the potential benefits of such approach in treating these patients subset.
The case illustrates the potential of leukemic transformation to Philadelphia chromosome positive myeloid malignancies from potential existing preleukemic clones, and the awareness of such an evolution among patients with myeloproliferative neoplasms. Tyrosine kinases have potential effect also in patients presenting without chronic myeloid leukemia and with rare fusion transcripts, and should probably be a part of the treatment approach.
骨髓增殖性肿瘤的一个特征是转变为更具侵袭性和恶性的髓系肿瘤，包括急性髓系白血病。不同的发病机制参与了这种转变，包括现有潜在的白血病前期克隆的转化，因为 JAK2-V617F 突变的骨髓增殖性肿瘤常常转变为野生型急性髓系白血病。
在此，我们报告一名 80 岁患有 JAK2-V617F 突变原发性骨髓纤维化的男性患者。10 个月后，该疾病转变为费城染色体阳性急性髓系白血病，检测到细胞遗传学异常；t(9;22)(q34;q22)，编码罕见的 BCR-ABL1 融合基因；e6a2。该患者对酪氨酸激酶治疗有反应，说明了这种治疗方法在治疗这类患者亚组中的潜在益处。
该病例说明了白血病从潜在的现有白血病前期克隆转变为费城染色体阳性髓系恶性肿瘤的可能性，以及骨髓增殖性肿瘤患者对这种演变的认识。酪氨酸激酶对无慢性髓系白血病且有罕见 BCR-ABL1 融合转录本的患者也有潜在作用，可能应成为治疗方法的一部分。
