常规荧光原位杂交分析显示侵袭性高级别b细胞淋巴瘤阴性患者MYC因染色体裂解事件改变1例

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AJSP-Reviews and Reports Pub Date : 2019-11-01 DOI:10.1097/PCR.0000000000000342

M. Sukhanova, Charles Van Slambrouck, K. Yap, Sonali M. Smith, S. Gurbuxani, G. Venkataraman

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引用次数: 0

摘要

淋巴瘤的双重打击和双重表达表型的特征是MYC和BCL2基因的表达通过多种机制激活，包括染色体易位和扩增。在此，我们报告了一例高级别b细胞淋巴瘤患者，该患者在8号染色体上有染色体裂解事件的证据(通过染色体微阵列方法)，导致MYC位点的局灶拷贝数增加，尽管免疫组织化学分析显示MYC表达强烈，但常规的MYC荧光原位杂交却未检测到。由于广泛的组织坏死，活检的染色体分析不成功。染色体裂解被认为是MYC在非霍奇金淋巴瘤中激活的另一种机制，导致疾病病程的侵袭性，该病例强调了在特定病例中进行染色体微阵列检测以确定侵袭性生物学的必要性。

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MYC Alteration by Chromothripsis Event in Aggressive High-Grade B-Cell Lymphoma Negative by Conventional Fluorescence In Situ Hybridization Analysis: A Case Report

Double-hit and double-expressor phenotypes in lymphomas are characterized by activation of the expression of the MYC and BCL2 genes through diverse mechanisms including chromosomal translocations and amplifications. Herein, we report a high-grade B-cell lymphoma in a patient with evidence for a chromothripsis event (via chromosomal microarray methodology) at chromosome 8, resulting in a focal copy number gain of theMYC locus, not detected by conventional fluorescence in situ hybridization for MYC despite strong MYC expression by immunohistochemical analysis. Chromosome analysis from the biopsy was not successful because of an extensive tissue necrosis. Chromothripsis is suggested as another mechanism for the activation of MYC in non-Hodgkin lymphoma, resulting in aggressive disease course, and this case underscores the need for chromosomal microarray testing in select cases to identify aggressive biology.

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AJSP-Reviews and Reports PATHOLOGY-

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期刊介绍： Each issue of Pathology Case Reviews examines one vital theme in the field with peer-reviewed, clinically oriented case reports that focus on diagnosis, specimen handling and reports generation. Each theme-oriented issue covers both histopathologic and cytopathologic cases, offering a comprehensive perspective that includes editorials and review articles of the newest developments in the field, differential diagnosis hints, applications of new technologies, reviews of current issues and techniques and an emphasis on new approaches.