关键词: BCL2 rearrangement FISH MYC rearrangement diffuse large B-cell lymphoma double-hit lymphoma high-grade B-cell lymphoma

来  源:   DOI:10.3389/fonc.2024.1408238   PDF(Pubmed)

Abstract:
UNASSIGNED: Fluorescence in situ hybridization (FISH) is an essential ancillary study used to identify clinically aggressive subsets of large B-cell lymphomas that have MYC, BCL2, or BCL6 rearrangements. Small-volume biopsies such as fine needle aspiration biopsy (FNAB) and core needle biopsy (CNB) are increasingly used to diagnose lymphoma and obtain material for ancillary studies such as FISH. However, the performance of FISH in small biopsies has not been thoroughly evaluated or compared to surgical biopsies.
UNASSIGNED: We describe the results of MYC, BCL2, and BCL6 FISH in a series of 222 biopsy specimens, including FNAB with cell blocks, CNBs, and surgical excisional or incisional biopsies from 208 unique patients aggregated from 6 academic medical centers. A subset of patients had FNAB followed by a surgical biopsy (either CNB or excisional biopsy) obtained from the same or contiguous anatomic site as part of the same clinical workup; FISH results were compared for these paired specimens.
UNASSIGNED: FISH had a low hybridization failure rate of around 1% across all specimen types. FISH identified concurrent MYC and BCL2 rearrangements in 20 of 197 (10%) specimens and concurrent MYC and BCL6 rearrangements in 3 of 182 (1.6%) specimens. The paired FNAB and surgical biopsy specimens did not show any discrepancies for MYC or BCL2 FISH; of the 17 patients with 34 paired cytology and surgical specimens, only 2 of the 49 FISH probes compared (4% of all comparisons) showed any discrepancy and both were at the BCL6 locus. One discrepancy was due to necrosis of the CNB specimen causing a false negative BCL6 FISH result when compared to the FNAB cell block that demonstrated a BCL6 rearrangement.
UNASSIGNED: FISH showed a similar hybridization failure rate in all biopsy types. Ultimately, MYC, BCL2, or BCL6 FISH showed 96% concordance when compared across paired cytology and surgical specimens, suggesting FNAB with cell block is equivalent to other biopsy alternatives for evaluation of DLBCL or HGBCL FISH testing.
摘要:
荧光原位杂交(FISH)是一项重要的辅助研究,用于鉴定具有MYC的大B细胞淋巴瘤的临床侵袭性亚群,BCL2或BCL6重排。小体积活检,如细针穿刺活检(FNAB)和芯针活检(CNB)越来越多地用于诊断淋巴瘤,并获得辅助研究的材料,如FISH。然而,尚未对FISH在小型活检中的表现进行全面评估或与手术活检进行比较.
我们描述了MYC的结果,一系列222个活检标本中的BCL2和BCL6FISH,包括带有单元块的FNAB,CNBs,来自6个学术医疗中心的208名独特患者的手术切除或切开活检。一部分患者接受FNAB,然后从相同或连续的解剖部位进行手术活检(CNB或切除活检),作为相同临床检查的一部分;比较了这些配对标本的FISH结果。
FISH在所有样本类型中具有约1%的低杂交失败率。FISH在197个标本中的20个(10%)中同时确定了MYC和BCL2重排,在182个标本中的3个(1.6%)中同时确定了MYC和BCL6重排。配对的FNAB和手术活检标本没有显示MYC或BCL2FISH的任何差异;在17例患者中,有34个配对的细胞学和手术标本,所比较的49种FISH探针中只有2种(占所有比较的4%)显示出任何差异,且均位于BCL6基因座.一个差异是由于当与显示BCL6重排的FNAB细胞块相比时,CNB样本的坏死导致假阴性BCL6FISH结果。
FISH在所有活检类型中均显示相似的杂交失败率。最终,MYC,BCL2或BCL6FISH在配对细胞学和手术标本之间进行比较时显示出96%的一致性,提示使用细胞块的FNAB等同于用于评估DLBCL或HGBCLFISH测试的其他活检替代方法。
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