对传统细胞遗传学来说很隐匿:伴有嗜酸性粒细胞增多的费城样急性淋巴细胞白血病。

Cryptic to conventional cytogenetics: Philadelphia-like ALL presenting with hypereosinophilia.

作者信息

Chahine Zena, Yenwong Fai Leonard, Wei Sainan, Qasrawi Ayman

机构信息

Department of Internal Medicine, University of Kentucky, Lexington, Kentucky, USA

University of Kentucky Medical Center, Lexington, Kentucky, USA.

出版信息

BMJ Case Rep. 2025 Jan 21;18(1):e259811. doi: 10.1136/bcr-2024-259811.

Abstract

BCR

:ABL1-like B-lymphoblastic leukaemia (B-ALL) neoplasms lack the BCR::ABL1 translocation but have a gene expression profile like BCR::ABL1 positive B-ALL. This includes alterations in cytokine receptors and signalling genes, such as and Cases with CRLF2 rearrangements account for approximately 50% of cases of Philadelphia-like acute lymphoblastic leukaemia (Ph-like ALL), and the frequency of specific genomic lesions varies with ethnicity such that IGH::CRLF2 translocations are more common in Hispanics and Native Americans.We report two cases of BCR::ABL1-like ALL, with significant eosinophilia. A Hispanic man in his early 20s and a Hispanic woman in her 50s presented with leukocytosis and eosinophilia. Bone marrow flow cytometry revealed lymphoblasts expressing CD19, CD10, partial CD20, CD22, CD79a, CD38, CD34, TdT and HLA-DR. Examination of the bone marrow biopsy and aspirate exhibited a hypercellular bone marrow with increased blasts and elevated eosinophils. Fluorescence in situ hybridisation (FISH) demonstrated a cryptic chromosomal rearrangement between the X chromosome and chromosome 14 at breakpoints involving IGH at 14q32 and CRLF2 at Xp22.33, t(X;14)(p22.33; q32).These findings confirmed the diagnosis of BCR::ABL1-like B-ALL with IGH::CRLF2 rearrangement. One patient (man) attained complete remission with induction therapy using the paediatric CALGB 10403 protocol, while the other patient (woman) had a poor outcome after receiving a hyper-fractionated cyclophosphamide, vincristine, doxorubicin and dexamethasone regimen. These two cases demonstrate an unusual presentation of BCR::ABL1-like B-ALL and emphasise the importance of appropriate cytogenetic studies for correct diagnosis. When treated with conventional chemotherapy, these cases carry a poor prognosis and might require allogeneic transplantation.

摘要

BCR

:ABL1样B淋巴细胞白血病(B-ALL)肿瘤缺乏BCR::ABL1易位,但具有与BCR::ABL1阳性B-ALL相似的基因表达谱。这包括细胞因子受体和信号基因的改变,如 和 。CRLF2重排的病例约占费城样急性淋巴细胞白血病(Ph样ALL)病例的50%,特定基因组病变的频率因种族而异,使得IGH::CRLF2易位在西班牙裔和美洲原住民中更为常见。我们报告了2例伴有明显嗜酸性粒细胞增多的BCR::ABL1样ALL病例。一名20岁出头的西班牙裔男性和一名50多岁的西班牙裔女性表现为白细胞增多和嗜酸性粒细胞增多。骨髓流式细胞术显示淋巴母细胞表达CD19、CD10、部分CD20、CD22、CD79a、CD38、CD34、TdT和HLA-DR。骨髓活检和穿刺检查显示骨髓细胞增多,原始细胞增加,嗜酸性粒细胞升高。荧光原位杂交(FISH)显示X染色体和14号染色体之间在涉及14q32的IGH和Xp22.33的CRLF2的断点处存在隐匿性染色体重排,t(X;14)(p22.33;q32)。这些发现证实了伴有IGH::CRLF2重排的BCR::ABL1样B-ALL的诊断。一名患者(男性)使用儿童癌症与白血病研究组(CALGB)10403方案诱导治疗后达到完全缓解,而另一名患者(女性)在接受超分割环磷酰胺、长春新碱、阿霉素和地塞米松方案治疗后预后不良。这两例病例展示了BCR::ABL1样B-ALL的不寻常表现,并强调了进行适当细胞遗传学研究以正确诊断的重要性。当采用传统化疗治疗时,这些病例预后不良,可能需要进行异基因移植。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d83/11795166/17cdd57213cc/bcr-18-1-g001.jpg

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