MYC rearrangement

MYC 重排
  • 文章类型: Journal Article
    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。
    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.
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  • 文章类型: Journal Article
    印第安纳大学(IU)启动了Burkitt淋巴瘤(BL)的荧光原位杂交(FISH)方法,以提高Moi教学和转诊医院(MTRH)的AMPATH参考实验室的诊断准确性和速度埃尔多雷特,肯尼亚。MTRH处BL的标准诊断测试包括活检标本或抽吸物的形态和有限的免疫组织化学面板。
    评估了2016年至2018年参加一项前瞻性研究的19名儿童的肿瘤标本,以改善疑似BL儿童的诊断和分期。收集活检标本或细针穿刺涂片的触摸准备,用Giemsa和/或H&E染色,并由病理学家审查以进行临时诊断。将未染色的载玻片储存并随后处理用于FISH。将重复的载玻片在两个实验室之间分开用于分析。流式细胞术结果可用于所有标本。来自埃尔多雷特新成立的FISH实验室的结果,肯尼亚在印第安纳波利斯进行了交叉验证,印第安纳.
    一致性研究发现,所研究的19个样本中有18个(95%)在两个位置均对一个或两个探针组(MYC和MYC/IGH)产生了可分析的FISH结果。两个FISH实验室之间的结果一致性为94%(17/18)。对于组织病理学诊断为BL的16个标本和三个非BL病例中的两个,FISH结果为100%一致(在IUFISH实验室中没有结果)。对于具有阳性流量结果的标本,FISH与流式细胞术相似,但鼻咽肿瘤的CD10和CD20的流量结果为阳性,但FISH为阴性。在肯尼亚进行的回顾性研究标本的FISH测试的模态周转时间为24至72小时。
    建立了FISH测试,进行了一项试点研究,评估FISH作为肯尼亚儿科人群BL诊断工具的可行性。这项研究在有限的资源环境中支持FISH,以提高非洲BL诊断的准确性和速度。
    UNASSIGNED: Indiana University (IU) initiated fluorescence in situ hybridisation (FISH) methodology for Burkitt Lymphoma (BL) to advance the accuracy and speed of diagnosis in the AMPATH Reference Laboratory at Moi Teaching and Referral Hospital (MTRH) in Eldoret, Kenya. Standard diagnostic testing for BL at MTRH includes morphology of the biopsy specimen or aspirate and limited immunohistochemistry panels.
    UNASSIGNED: Tumour specimens from 19 children enrolled from 2016 to 2018 in a prospective study to improve the diagnosis and staging of children with suspected BL were evaluated. Touch preps from biopsy specimens or smears from fine needle aspiration were collected, stained with Giemsa and/or H&E and reviewed by pathologists to render a provisional diagnosis. Unstained slides were stored and later processed for FISH. Duplicate slides were split between two laboratories for analysis. Flow cytometry results were available for all specimens. Results from the newly established FISH laboratory in Eldoret, Kenya were cross-validated in Indianapolis, Indiana.
    UNASSIGNED: Concordance studies found 18 of 19 (95%) of specimens studied yielded analysable FISH results for one or both probe sets (MYC and MYC/IGH) in both locations. There was 94% (17/18) concordance of results between the two FISH laboratories. FISH results were 100% concordant for the 16 specimens with a histopathological diagnosis of BL and two of three non-BL cases (one case no result in IU FISH lab). FISH was similarly concordant with flow cytometry for specimens with positive flow results with the exception of a nasopharyngeal tumour with positive flow results for CD10 and CD20 but was negative by FISH. The modal turn-around time for FISH testing on retrospective study specimens performed in Kenya ranged between 24 and 72 hours.
    UNASSIGNED: FISH testing was established, and a pilot study performed, to assess the feasibility of FISH as a diagnostic tool for the determination of BL in a Kenyan paediatric population. This study supports FISH in limited resource settings to improve the accuracy and speed of diagnosis of BL in Africa.
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