Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias
Leukemia-associated structural chromosomal abnormalities (SCA) can be identified either by karyotyping or interphase-fluorescence in-situ hybridization (i-FISH) assays. Both karyotyping and i-FISH on mononuclear cell suspension are time, resource, and manpower-consuming assays. In this study, we hav...
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| Veröffentlicht in: | Indian journal of hematology & blood transfusion 2024-04, Vol.40 (2), p.324-330 |
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| creator | Bommannan, Karthik Arumugam, Jhansi Rani Koshy, Teena Radhakrishnan, Venkatraman Sundersingh, Shirley |
| description | Leukemia-associated structural chromosomal abnormalities (SCA) can be identified either by karyotyping or interphase-fluorescence in-situ hybridization (i-FISH) assays. Both karyotyping and i-FISH on mononuclear cell suspension are time, resource, and manpower-consuming assays. In this study, we have compared the results of specific leukemia-associated SCAs identified by i-FISH on air-dried bone marrow (BM)/peripheral blood (PB) smears and BM karyotyping. The study was conducted among pediatric patients (age ≤ 18 years) diagnosed with acute leukemias between January 2018 to December 2022. The results of i-FISH on air-dried BM/PB smears and BM-karyotyping for our SCA of interest (
BCR
::
ABL1
,
ETV6
::
RUNX1
,
TCF3
::
PBX1
,
KMT2A
rearrangement,
RUNX1
::
RUNX1T1
,
CBFB
::
MYH11
, and
PML
::
RARA
) were entered in a contingency table and the agreement of results was calculated. The strength of agreement was assessed by Cramer's V test. Among 270 patients, SCA of interest was identified among 26% and 17% of patients by i-FISH on air-dried smears and karyotyping, respectively. Excluding 53 patients with metaphase failure, the remaining 217 patients had 92% agreement (Cramer's V of 0.931 with
p
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| doi_str_mv | 10.1007/s12288-023-01699-2 |
| format | Article |
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BCR
::
ABL1
,
ETV6
::
RUNX1
,
TCF3
::
PBX1
,
KMT2A
rearrangement,
RUNX1
::
RUNX1T1
,
CBFB
::
MYH11
, and
PML
::
RARA
) were entered in a contingency table and the agreement of results was calculated. The strength of agreement was assessed by Cramer's V test. Among 270 patients, SCA of interest was identified among 26% and 17% of patients by i-FISH on air-dried smears and karyotyping, respectively. Excluding 53 patients with metaphase failure, the remaining 217 patients had 92% agreement (Cramer's V of 0.931 with
p
< 0.000) between the results for specific SCAs identified by both techniques. On excluding samples with cryptic cytogenetic aberrancies, there was 99% agreement (Cramer's V of 0.953 with
p
< 0.000) for gross SCA identified by both techniques. In addition, i-FISH on air-dried smears identified SCA in 30% of patients with metaphase failure. I-FISH on air-dried PB/BMA smears is a less-labor and resource-consuming assay. It can be considered an efficient alternative to conventional karyotyping for identifying specific SCA of interest in under-resourced laboratories.</description><identifier>ISSN: 0971-4502</identifier><identifier>ISSN: 0974-0449</identifier><identifier>EISSN: 0974-0449</identifier><identifier>EISSN: 0971-4502</identifier><identifier>DOI: 10.1007/s12288-023-01699-2</identifier><identifier>PMID: 38708148</identifier><language>eng</language><publisher>New Delhi: Springer India</publisher><subject>Agreements ; Blood Transfusion Medicine ; Hematology ; Human Genetics ; Leukemia ; Medicine ; Medicine & Public Health ; Oncology ; Original Article ; Pediatrics</subject><ispartof>Indian journal of hematology & blood transfusion, 2024-04, Vol.40 (2), p.324-330</ispartof><rights>The Author(s), under exclusive licence to Indian Society of Hematology and Blood Transfusion 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c326t-ca3c42b7f35e90b49634f32b84c22eee3f94e41256ac025a9fe4780af2b5add3</cites><orcidid>0000-0003-0851-886X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12288-023-01699-2$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12288-023-01699-2$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38708148$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bommannan, Karthik</creatorcontrib><creatorcontrib>Arumugam, Jhansi Rani</creatorcontrib><creatorcontrib>Koshy, Teena</creatorcontrib><creatorcontrib>Radhakrishnan, Venkatraman</creatorcontrib><creatorcontrib>Sundersingh, Shirley</creatorcontrib><title>Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias</title><title>Indian journal of hematology & blood transfusion</title><addtitle>Indian J Hematol Blood Transfus</addtitle><addtitle>Indian J Hematol Blood Transfus</addtitle><description>Leukemia-associated structural chromosomal abnormalities (SCA) can be identified either by karyotyping or interphase-fluorescence in-situ hybridization (i-FISH) assays. Both karyotyping and i-FISH on mononuclear cell suspension are time, resource, and manpower-consuming assays. In this study, we have compared the results of specific leukemia-associated SCAs identified by i-FISH on air-dried bone marrow (BM)/peripheral blood (PB) smears and BM karyotyping. The study was conducted among pediatric patients (age ≤ 18 years) diagnosed with acute leukemias between January 2018 to December 2022. The results of i-FISH on air-dried BM/PB smears and BM-karyotyping for our SCA of interest (
BCR
::
ABL1
,
ETV6
::
RUNX1
,
TCF3
::
PBX1
,
KMT2A
rearrangement,
RUNX1
::
RUNX1T1
,
CBFB
::
MYH11
, and
PML
::
RARA
) were entered in a contingency table and the agreement of results was calculated. The strength of agreement was assessed by Cramer's V test. Among 270 patients, SCA of interest was identified among 26% and 17% of patients by i-FISH on air-dried smears and karyotyping, respectively. Excluding 53 patients with metaphase failure, the remaining 217 patients had 92% agreement (Cramer's V of 0.931 with
p
< 0.000) between the results for specific SCAs identified by both techniques. On excluding samples with cryptic cytogenetic aberrancies, there was 99% agreement (Cramer's V of 0.953 with
p
< 0.000) for gross SCA identified by both techniques. In addition, i-FISH on air-dried smears identified SCA in 30% of patients with metaphase failure. I-FISH on air-dried PB/BMA smears is a less-labor and resource-consuming assay. It can be considered an efficient alternative to conventional karyotyping for identifying specific SCA of interest in under-resourced laboratories.</description><subject>Agreements</subject><subject>Blood Transfusion Medicine</subject><subject>Hematology</subject><subject>Human Genetics</subject><subject>Leukemia</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Oncology</subject><subject>Original Article</subject><subject>Pediatrics</subject><issn>0971-4502</issn><issn>0974-0449</issn><issn>0974-0449</issn><issn>0971-4502</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kc1uFDEQhC1EREKSF-CALHHhYvDf_B1HCyErrUSUzd3yeNpZhxl7sT1C-y48LE42gMSBU5faX1VbKoTeMPqBUdp8TIzztiWUC0JZ3XWEv0BntGskoVJ2L580I7Ki_BS9TumB0poJWb1Cp6JtaMtke4Z-3oYJcLB47TPE_U4nwFfr7TXuU9IHHDzuXSSfooMRb2fQMWHn8XoEn509OH-Pt3swzjqDtzkuJi9RT3i1i2EOKcxF94MPsQiXHSSs51A8NzA6nWMx3eiy9jnhHy7vcG-WDHgDyzeYnU4X6MTqKcHl8zxHd1ef71bXZPP1y3rVb4gRvM7EaGEkHxorKujoILtaSCv40ErDOQAI20mQjFe1NpRXurMgm5Zqy4dKj6M4R--PsfsYvi-QsppdMjBN2kNYkhK0YpLLmlcFffcP-hCW6MvnHqnSBKOiKRQ_UiaGlCJYtY9u1vGgGFWP1aljdaoY1FN1ihfT2-foZZhh_GP53VUBxBFI5cnfQ_x7-z-xvwCQZaXe</recordid><startdate>20240401</startdate><enddate>20240401</enddate><creator>Bommannan, Karthik</creator><creator>Arumugam, Jhansi Rani</creator><creator>Koshy, Teena</creator><creator>Radhakrishnan, Venkatraman</creator><creator>Sundersingh, Shirley</creator><general>Springer India</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-0851-886X</orcidid></search><sort><creationdate>20240401</creationdate><title>Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias</title><author>Bommannan, Karthik ; Arumugam, Jhansi Rani ; Koshy, Teena ; Radhakrishnan, Venkatraman ; Sundersingh, Shirley</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-ca3c42b7f35e90b49634f32b84c22eee3f94e41256ac025a9fe4780af2b5add3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Agreements</topic><topic>Blood Transfusion Medicine</topic><topic>Hematology</topic><topic>Human Genetics</topic><topic>Leukemia</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Oncology</topic><topic>Original Article</topic><topic>Pediatrics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bommannan, Karthik</creatorcontrib><creatorcontrib>Arumugam, Jhansi Rani</creatorcontrib><creatorcontrib>Koshy, Teena</creatorcontrib><creatorcontrib>Radhakrishnan, Venkatraman</creatorcontrib><creatorcontrib>Sundersingh, Shirley</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Indian journal of hematology & blood transfusion</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bommannan, Karthik</au><au>Arumugam, Jhansi Rani</au><au>Koshy, Teena</au><au>Radhakrishnan, Venkatraman</au><au>Sundersingh, Shirley</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias</atitle><jtitle>Indian journal of hematology & blood transfusion</jtitle><stitle>Indian J Hematol Blood Transfus</stitle><addtitle>Indian J Hematol Blood Transfus</addtitle><date>2024-04-01</date><risdate>2024</risdate><volume>40</volume><issue>2</issue><spage>324</spage><epage>330</epage><pages>324-330</pages><issn>0971-4502</issn><issn>0974-0449</issn><eissn>0974-0449</eissn><eissn>0971-4502</eissn><abstract>Leukemia-associated structural chromosomal abnormalities (SCA) can be identified either by karyotyping or interphase-fluorescence in-situ hybridization (i-FISH) assays. Both karyotyping and i-FISH on mononuclear cell suspension are time, resource, and manpower-consuming assays. In this study, we have compared the results of specific leukemia-associated SCAs identified by i-FISH on air-dried bone marrow (BM)/peripheral blood (PB) smears and BM karyotyping. The study was conducted among pediatric patients (age ≤ 18 years) diagnosed with acute leukemias between January 2018 to December 2022. The results of i-FISH on air-dried BM/PB smears and BM-karyotyping for our SCA of interest (
BCR
::
ABL1
,
ETV6
::
RUNX1
,
TCF3
::
PBX1
,
KMT2A
rearrangement,
RUNX1
::
RUNX1T1
,
CBFB
::
MYH11
, and
PML
::
RARA
) were entered in a contingency table and the agreement of results was calculated. The strength of agreement was assessed by Cramer's V test. Among 270 patients, SCA of interest was identified among 26% and 17% of patients by i-FISH on air-dried smears and karyotyping, respectively. Excluding 53 patients with metaphase failure, the remaining 217 patients had 92% agreement (Cramer's V of 0.931 with
p
< 0.000) between the results for specific SCAs identified by both techniques. On excluding samples with cryptic cytogenetic aberrancies, there was 99% agreement (Cramer's V of 0.953 with
p
< 0.000) for gross SCA identified by both techniques. In addition, i-FISH on air-dried smears identified SCA in 30% of patients with metaphase failure. I-FISH on air-dried PB/BMA smears is a less-labor and resource-consuming assay. It can be considered an efficient alternative to conventional karyotyping for identifying specific SCA of interest in under-resourced laboratories.</abstract><cop>New Delhi</cop><pub>Springer India</pub><pmid>38708148</pmid><doi>10.1007/s12288-023-01699-2</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0003-0851-886X</orcidid></addata></record> |
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| subjects | Agreements Blood Transfusion Medicine Hematology Human Genetics Leukemia Medicine Medicine & Public Health Oncology Original Article Pediatrics |
| title | Role of Interphase FISH Assay on Air-Dried Smears in Identifying Specific Structural Chromosomal Abnormalities among Pediatric Patients with Acute Leukemias |
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