Hamza Ameer, Khan Uqba, Khawar Sidrah, Snower Daniel
Department of Pathology, St. John Hospital and Medical Center, Detroit, MI, USA.
Department of Hematology/Oncology, St. John Hospital and Medical Center, Detroit, MI, USA.
Mol Biol Rep. 2018 Jun;45(3):347-351. doi: 10.1007/s11033-018-4168-x. Epub 2018 Mar 22.
Advancement in genetic and molecular biology techniques has greatly helped our understanding of various diseases, especially hematological disorders. We describe a case of primary myelofibrosis (PMF) that transformed into acute myeloid leukemia with a very rare and unusual genetic translocation of (1;21). There are only five reported cases of this translocation in acute myeloid leukemia (AML) or myelodysplastic syndrome but none of them transformed from PMF. This case not only highlights the importance of rare genetic translocations but also provides the natural history of the disease and its poor prognosis. To the best of our knowledge our patient is the first reported case of AML transformed from PMF to have this unique translocation of (1;21).
遗传和分子生物学技术的进步极大地帮助了我们对各种疾病的理解，尤其是血液系统疾病。我们描述了一例原发性骨髓纤维化（PMF）转化为急性髓系白血病的病例，其伴有非常罕见且不寻常的（1；21）基因易位。在急性髓系白血病（AML）或骨髓增生异常综合征中，仅有五例报道的这种易位病例，但均非由PMF转化而来。该病例不仅凸显了罕见基因易位的重要性，还提供了该疾病的自然病程及其不良预后。据我们所知，我们的患者是首例报道的由PMF转化为AML且具有这种独特（1；21）易位的病例。
