Roush Sam, Ahmed Tahmeena, Schuster Michael, Wang Kevin, Lee Elizabeth, Zavala Artemio, Mian Rehan, Tirado Carlos A
Department of Pathology, Renaissance School of Medicine, Stony Brook University, NY.
The Cytogenetics Lab, Department of Pathology, Stony Brook University Hospital, NY.
J Assoc Genet Technol. 2024;50(4):193-198.
We report a 76-year-old male patient with myelodysplastic syndrome (MDS) with a t(9;22) and deletion 20q only by FISH. Past medical history is significant for prostate cancer status post radiation therapy and a 28-pack-year smoking history. In 2016, the patient developed a DVT and incidentally was found to have a BCR::ABL1 (p210) by PCR analysis (level of 0.54% of the international scale). Subsequent bone marrow aspiration revealed a hypercellular bone marrow with a small monoclonal B-cell population morphologically consistent with chronic myelogenous leukemia (CML). FISH analysis demonstrated t(9;22) translocation and a loss of 20q12 in 5% of nuclei. The patient was started on nilotinib therapy. Follow-up BCR::ABL1 testing six months later did not detect BCR::ABL1; however, subsequent FISH analysis on bone marrow aspirates performed at one and seven years after initial diagnosis continued to show deletion 20q (1-3% of nuclei). Morphologic features of bone marrow aspirates have demonstrated a CML-type hypercellular bone marrow with myeloid/megakaryocytic hyperplasia and micromegakaryocytes. This case pinpoints the importance of comprehensive study when MDS is present with deletion 20q and a t(9;22), as it can be misdiagnosed as CML. While definitive therapeutic guidelines have yet to be established for this rare presentation of MDS, the use of tyrosine kinase inhibitors is under investigation.
我们报告了一名76岁男性骨髓增生异常综合征（MDS）患者，其仅通过荧光原位杂交（FISH）检测发现有t(9;22)和20号染色体长臂缺失。既往病史包括前列腺癌放疗后以及28年的吸烟史，吸烟量为每年28包。2016年，该患者发生深静脉血栓（DVT），经聚合酶链反应（PCR）分析偶然发现存在BCR::ABL1（p210）（国际标准水平为0.54%）。随后的骨髓穿刺显示骨髓细胞增多，有一小群单克隆B细胞，形态学上与慢性髓性白血病（CML）一致。FISH分析显示5%的细胞核中有t(9;22)易位和20q12缺失。患者开始接受尼洛替尼治疗。6个月后的随访BCR::ABL1检测未检测到BCR::ABL1；然而，在初始诊断后1年和7年对骨髓穿刺物进行的后续FISH分析仍显示20号染色体长臂缺失（1%-3%的细胞核）。骨髓穿刺物的形态学特征显示为CML型骨髓细胞增多，伴有髓系/巨核系增生和微小巨核细胞。该病例指出，当MDS伴有20号染色体长臂缺失和t(9;22)时，进行全面研究很重要，因为它可能被误诊为CML。虽然针对这种罕见的MDS表现尚未确立明确的治疗指南，但酪氨酸激酶抑制剂的使用正在研究中。
