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一例表现为双侧视网膜病变的慢性髓性白血病病例。

A Case of Chronic Myeloid Leukemia Presenting as Bilateral Retinopathy.

作者信息

Kandambeth Varsha, Shinde Pranaykumar, Daigavane Sachin

机构信息

Department of Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.

出版信息

Cureus. 2022 Nov 21;14(11):e31718. doi: 10.7759/cureus.31718. eCollection 2022 Nov.

Abstract

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm with raised granulocyte cell line. It arises in the hematopoietic stem cell and is characterized by the presence of BCR-ABL fusion gene as a result of translocation between chromosomes t(9,22) (q34; q11.2). CML affects bone marrow and peripheral blood. CML can be asymptomatic and is usually discovered on routine blood investigations. It can also present as symptoms associated with anemia and splenomegaly. Rarely do CML patients present with retinal abnormalities as an initial presentation. We cover a case of CML in this report that had retinal involvement as one of its earliest manifestations. Patient presented with gradual loss of vision in both eyes. Multiple bilateral intraretinal and preretinal hemorrhages with exudates were found during fundus examination. Blood tests revealed a raised leukocyte count along with lower hemoglobin levels. Peripheral smear revealed 4% blast cells. Bone marrow aspiration showed hypercellular marrow, marked granulocyte proliferation, and raised myeloid erythroid ratio. The diagnosis was further confirmed by fluorescence in-situ hybridization (FISH) which showed BCR-ABL1 fusion gene. Patient was immediately started on chemotherapy and has been on follow-up since then. Visual acuity of the patient improved and there was no progression of retinopathy. This case thus serves as an illustration of how early detection and management can significantly slow the progression of retinopathy and improve visual outcomes.

摘要

慢性髓性白血病(CML)是一种粒细胞系增多的骨髓增殖性肿瘤。它起源于造血干细胞,其特征是由于9号和22号染色体之间的t(9,22)(q34; q11.2)易位而存在BCR-ABL融合基因。CML影响骨髓和外周血。CML可能无症状,通常在常规血液检查时被发现。它也可能表现为与贫血和脾肿大相关的症状。CML患者很少以视网膜异常作为首发表现。在本报告中,我们涵盖了一例以视网膜受累为最早表现之一的CML病例。患者出现双眼视力逐渐下降。眼底检查发现双眼多处视网膜内和视网膜前出血伴渗出。血液检查显示白细胞计数升高以及血红蛋白水平降低。外周血涂片显示4%的原始细胞。骨髓穿刺显示骨髓细胞增多、粒细胞显著增殖以及髓红比例升高。荧光原位杂交(FISH)显示BCR-ABL1融合基因,进一步确诊了该疾病。患者立即开始化疗,此后一直在接受随访。患者的视力有所改善,视网膜病变没有进展。因此,该病例说明了早期检测和治疗如何能够显著减缓视网膜病变的进展并改善视力结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55ba/9768629/060569d15cd7/cureus-0014-00000031718-i01.jpg

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