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Abstract：
Myeloid sarcoma (MS) occurs in patients with acute myeloid leukemia (AML). In rare cases, MS can represent a form of blast transformation in patients with myeloproliferative neoplasms (MPN), myelodysplastic neoplasms (MDS), or MDS/MPN. The most frequent chromosomal alterations in MS are t(8;21) or inv(16), with other alterations being reported. Cases of MS in Janus kinase 2 (JAK2)-positive MDS with fibrosis are exceedingly rare. Here, we describe such a case. To the best of our knowledge, this is the first report of a JAK2 V617F mutation-positive MDS case occurring concurrently with MS involving the posterior aspect of the left seventh rib. No clear association has been previously demonstrated between the intramedullary AML cytogenetics and extramedullary disease occurrence. Interestingly, samples from the intramedullary MDS and extramedullary mass in this patient presented the same JAK2 V617F mutation. Following a treatment regimen of azacitidine and venetoclax, the patient achieved complete remission. The chest CT scan showed that the seventh posterior rib mass disappeared. This case provides valuable information for the potential future treatment of this disease.
摘要：
髓系肉瘤（MS）发生在急性髓系白血病（AML）患者中。在极少数情况下,MS可以代表骨髓增殖性肿瘤（MPN）患者的一种母细胞转化形式，骨髓增生异常肿瘤（MDS），或MDS/MPN。MS中最常见的染色体改变是t（8;21）或inv（16），报告了其他改动。患有纤维化的Janus激酶2（JAK2）阳性MDS中的MS病例极为罕见。这里,我们描述了这样一个案例。据我们所知,这是一例JAK2V617F突变阳性MDS病例的首例报告,该病例与累及左侧第七肋后部的MS同时发生.先前在髓内AML细胞遗传学和髓外疾病发生之间没有明确的关联。有趣的是,该患者的髓内MDS和髓外肿块样本呈现相同的JAK2V617F突变.在阿扎胞苷和维奈托克的治疗方案之后，患者达到完全缓解。胸部CT扫描显示第七后肋骨肿块消失。该病例为该疾病的潜在未来治疗提供了有价值的信息。
