B-Lymphoblastic Leukemia Presenting with an Isoderivative Philadelphia Chromosome—A Rare Case Report and Review of Literature

IF 0.3 Q4 ONCOLOGY

Indian Journal of Medical and Paediatric Oncology Pub Date : 2023-07-05 DOI:10.1055/s-0043-1770094

Neelum Mansoor, S. Maqsood, Syeda Ambreen Zehra, Imad Bakri

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引用次数: 0

Abstract

Abstract The Philadelphia chromosome is seen in 5% of pediatric and 25 to 50% of adult cases of acute lymphoblastic leukemia (ALL). It is linked to aggressive illness with a dismal prognosis. Additional chromosomal abnormalities are not prevalent with translocation 9;22; nevertheless, isochromosome derivative [ider(22)] with this translocation is rarely recorded in the literature. This is the third instance of ider(22) in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Bone marrow chromosome analysis by G-banding showed 46,XX,t(9;22)(q34;q11.2)[6]/46,XX,ider(22)(q10)t(9;22)(q34;q11.2)[14]. Fluorescence in situ hybridization (FISH) analysis for BCR::ABL1 fusion showed 40% of interphase cells with two and 35% with three fusion signals that were in concordance with the karyotype. The patient was categorized as National Cancer Institute (NCI) high-risk (HR) and started with HR chemotherapy according to Children's Oncology Group (COG) protocol. Postinduction remission assessment by flow cytometry showed 2.6% measurable residual disease. The case highlights significance of cytogenetic analysis despite availability of advanced techniques like FISH. The prognostic significance of concurrent ider22(q10) with t(9;22) is yet to be explored.

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b淋巴母细胞白血病表现为同衍生费城染色体——罕见病例报告及文献复习

费城染色体见于5%的儿童和25 - 50%的成人急性淋巴细胞白血病(ALL)病例。它与预后不佳的侵袭性疾病有关。其他染色体异常在易位中并不普遍9;22;然而，具有这种易位的同染色体衍生物[ider(22)]在文献中很少有记录。这是儿童b细胞急性淋巴细胞白血病(B-ALL)的第三例ider(22)。骨髓染色体g显带分析显示46,XX,t(9;22)(q34;q11.2)[6]/46,XX,ider(22)(q10)t(9;22)(q34;q11.2)[6]。荧光原位杂交(FISH)分析显示，40%的间期细胞具有2个和35%的间期细胞具有3个与核型一致的融合信号。患者被归类为国家癌症研究所(NCI)高危(HR)，并根据儿童肿瘤组(COG)方案开始HR化疗。诱导后缓解评估流式细胞术显示2.6%可测量的残留疾病。该病例强调了细胞遗传学分析的重要性，尽管有像FISH这样的先进技术。与t(9;22)同时发生的ider22(q10)的预后意义尚待探讨。

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来源期刊

Indian Journal of Medical and Paediatric Oncology ONCOLOGY-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The journal will cover technical and clinical studies related to medical and pediatric oncology in human well being including ethical and social issues. Articles with clinical interest and implications will be given preference.