CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management

Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 123...

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Autores principales:	Richard K. Yang, Gokce A. Toruner, Wei Wang, Hong Fang, Ghayas C. Issa, Lulu Wang, Andrés E. Quesada, Beenu Thakral, Keyur P. Patel, Guang Peng, Shujuan Liu, C. Cameron Yin, Gautam Borthakur, Zhenya Tang, Sa A. Wang, Roberto N. Miranda, Joseph D. Khoury, L. Jeffrey Medeiros, Guilin Tang
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	FISH <i>CBFB rearrangement</i> <i>CBFB-MYH11</i> RT-PCR atypical findings additional chromosome16 aberrations (AC16As) Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/e574dae0bf48403aa1f3b9fd1c82d0bc
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spelling	oai:doaj.org-article:e574dae0bf48403aa1f3b9fd1c82d0bc2021-11-11T15:28:56ZCBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management10.3390/cancers132153542072-6694https://doaj.org/article/e574dae0bf48403aa1f3b9fd1c82d0bc2021-10-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/21/5354https://doaj.org/toc/2072-6694Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 133 (8.2%) were reported as positive, normal, and abnormal, respectively. The last included <i>CBFB</i> copy number changes (<i>n</i> = 120) and atypical findings such as 3′CBFB deletion (<i>n</i> = 11), 5′CBFB deletion (<i>n</i> = 1), and 5′<i>CBFB</i> gain (<i>n</i> = 1). Correlating with <i>CBFB-MYH11</i> RT-PCR results, totally 271 <i>CBFB</i> rearrangement cases were identified, including five with discrepancies between FISH and RT-PCR due to new partner genes (<i>n</i> = 3), insertion (<i>n</i> = 1), or rare <i>CBFB-MYH11</i> variant (<i>n</i> = 1) and eight with <i>3′CBFB</i> deletion. All cases with atypical findings and/or discrepancies presented clinical diagnostic challenges. Correlating FISH signal patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show impacts on the re-definition of a complex karyotype and prognostic prediction. The <i>CBFB</i> rearrangement but not all AC16As will be detected by NGS-based methods. Therefore, FISH testing is currently still needed to provide a quick and straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional information related to clinical management.Richard K. YangGokce A. TorunerWei WangHong FangGhayas C. IssaLulu WangAndrés E. QuesadaBeenu ThakralKeyur P. PatelGuang PengShujuan LiuC. Cameron YinGautam BorthakurZhenya TangSa A. WangRoberto N. MirandaJoseph D. KhouryL. Jeffrey MedeirosGuilin TangMDPI AGarticleFISH<i>CBFB rearrangement</i><i>CBFB-MYH11</i>RT-PCRatypical findingsadditional chromosome16 aberrations (AC16As)Neoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5354, p 5354 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	FISH <i>CBFB rearrangement</i> <i>CBFB-MYH11</i> RT-PCR atypical findings additional chromosome16 aberrations (AC16As) Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	FISH <i>CBFB rearrangement</i> <i>CBFB-MYH11</i> RT-PCR atypical findings additional chromosome16 aberrations (AC16As) Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Richard K. Yang Gokce A. Toruner Wei Wang Hong Fang Ghayas C. Issa Lulu Wang Andrés E. Quesada Beenu Thakral Keyur P. Patel Guang Peng Shujuan Liu C. Cameron Yin Gautam Borthakur Zhenya Tang Sa A. Wang Roberto N. Miranda Joseph D. Khoury L. Jeffrey Medeiros Guilin Tang CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
description	Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 133 (8.2%) were reported as positive, normal, and abnormal, respectively. The last included <i>CBFB</i> copy number changes (<i>n</i> = 120) and atypical findings such as 3′CBFB deletion (<i>n</i> = 11), 5′CBFB deletion (<i>n</i> = 1), and 5′<i>CBFB</i> gain (<i>n</i> = 1). Correlating with <i>CBFB-MYH11</i> RT-PCR results, totally 271 <i>CBFB</i> rearrangement cases were identified, including five with discrepancies between FISH and RT-PCR due to new partner genes (<i>n</i> = 3), insertion (<i>n</i> = 1), or rare <i>CBFB-MYH11</i> variant (<i>n</i> = 1) and eight with <i>3′CBFB</i> deletion. All cases with atypical findings and/or discrepancies presented clinical diagnostic challenges. Correlating FISH signal patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show impacts on the re-definition of a complex karyotype and prognostic prediction. The <i>CBFB</i> rearrangement but not all AC16As will be detected by NGS-based methods. Therefore, FISH testing is currently still needed to provide a quick and straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional information related to clinical management.
format	article
author	Richard K. Yang Gokce A. Toruner Wei Wang Hong Fang Ghayas C. Issa Lulu Wang Andrés E. Quesada Beenu Thakral Keyur P. Patel Guang Peng Shujuan Liu C. Cameron Yin Gautam Borthakur Zhenya Tang Sa A. Wang Roberto N. Miranda Joseph D. Khoury L. Jeffrey Medeiros Guilin Tang
author_facet	Richard K. Yang Gokce A. Toruner Wei Wang Hong Fang Ghayas C. Issa Lulu Wang Andrés E. Quesada Beenu Thakral Keyur P. Patel Guang Peng Shujuan Liu C. Cameron Yin Gautam Borthakur Zhenya Tang Sa A. Wang Roberto N. Miranda Joseph D. Khoury L. Jeffrey Medeiros Guilin Tang
author_sort	Richard K. Yang
title	CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
title_short	CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
title_full	CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
title_fullStr	CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
title_full_unstemmed	CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
title_sort	cbfb break-apart fish testing: an analysis of 1629 aml cases with a focus on atypical findings and their implications in clinical diagnosis and management
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/e574dae0bf48403aa1f3b9fd1c82d0bc
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CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management

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