Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
The objective of the present study was to improve the risk stratification of T-cell Acute Lymphoblastic Leukemia (T-ALL) patients. It aimed to identify the frequency and clinical impact of DNM2 gene mutations among adult T-ALL cases. The current study included 25 T-ALL patients before starting their...
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Veröffentlicht in: | Asian Pacific Journal of Cancer Prevention 2023-04, Vol.24 (4), p.1257-1264 |
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creator | Sobh, Marwa Aref, Salah Al Agdar, Mohamed El Zafrany, Maha El-Sokkary, Ahmed M A |
description | The objective of the present study was to improve the risk stratification of T-cell Acute Lymphoblastic Leukemia (T-ALL) patients. It aimed to identify the frequency and clinical impact of DNM2 gene mutations among adult T-ALL cases.
The current study included 25 T-ALL patients before starting their treatment. Mutational analysis of DNM2 gene (exons 18 and 22) was performed for all patients using Macrogen 3730 apparatus.
We identified DNM2 gene mutations in 19 out of 25 (76%) patients. The detected mutations were either missense or deletion. Only active mutations (deletion) were associated with poor induction remission response and high frequency of relapse. Two novel mutations were addressed among the studied cohort of patients. They included c.1866G>C (p.V596L) and c.1872delA in exon 18. A high frequency of silent mutations was also found in T-ALL patients, but with no impact on clinical features.
The DNM2 mutations were prevalent among adult T-ALL patients and might have a role in the pathogenesis of the disease. Active DNM2 mutations were associated with poor clinical outcome. Moreover, high frequency of DNM2 mutations indicated that these mutations could be utilized in detection of minimal residual disease in T-ALL patients. |
doi_str_mv | 10.31557/APJCP.2023.24.4.1257 |
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The current study included 25 T-ALL patients before starting their treatment. Mutational analysis of DNM2 gene (exons 18 and 22) was performed for all patients using Macrogen 3730 apparatus.
We identified DNM2 gene mutations in 19 out of 25 (76%) patients. The detected mutations were either missense or deletion. Only active mutations (deletion) were associated with poor induction remission response and high frequency of relapse. Two novel mutations were addressed among the studied cohort of patients. They included c.1866G>C (p.V596L) and c.1872delA in exon 18. A high frequency of silent mutations was also found in T-ALL patients, but with no impact on clinical features.
The DNM2 mutations were prevalent among adult T-ALL patients and might have a role in the pathogenesis of the disease. Active DNM2 mutations were associated with poor clinical outcome. Moreover, high frequency of DNM2 mutations indicated that these mutations could be utilized in detection of minimal residual disease in T-ALL patients.</description><identifier>ISSN: 2476-762X</identifier><identifier>ISSN: 1513-7368</identifier><identifier>EISSN: 2476-762X</identifier><identifier>DOI: 10.31557/APJCP.2023.24.4.1257</identifier><identifier>PMID: 37116148</identifier><language>eng</language><publisher>Thailand: West Asia Organization for Cancer Prevention</publisher><subject>Adult ; Dynamin II - genetics ; Humans ; Mutation - genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics ; T-Lymphocytes</subject><ispartof>Asian Pacific Journal of Cancer Prevention, 2023-04, Vol.24 (4), p.1257-1264</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><orcidid>0000-0002-4822-5204</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352738/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352738/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37116148$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sobh, Marwa</creatorcontrib><creatorcontrib>Aref, Salah</creatorcontrib><creatorcontrib>Al Agdar, Mohamed</creatorcontrib><creatorcontrib>El Zafrany, Maha</creatorcontrib><creatorcontrib>El-Sokkary, Ahmed M A</creatorcontrib><title>Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia</title><title>Asian Pacific Journal of Cancer Prevention</title><addtitle>Asian Pac J Cancer Prev</addtitle><description>The objective of the present study was to improve the risk stratification of T-cell Acute Lymphoblastic Leukemia (T-ALL) patients. It aimed to identify the frequency and clinical impact of DNM2 gene mutations among adult T-ALL cases.
The current study included 25 T-ALL patients before starting their treatment. Mutational analysis of DNM2 gene (exons 18 and 22) was performed for all patients using Macrogen 3730 apparatus.
We identified DNM2 gene mutations in 19 out of 25 (76%) patients. The detected mutations were either missense or deletion. Only active mutations (deletion) were associated with poor induction remission response and high frequency of relapse. Two novel mutations were addressed among the studied cohort of patients. They included c.1866G>C (p.V596L) and c.1872delA in exon 18. A high frequency of silent mutations was also found in T-ALL patients, but with no impact on clinical features.
The DNM2 mutations were prevalent among adult T-ALL patients and might have a role in the pathogenesis of the disease. Active DNM2 mutations were associated with poor clinical outcome. Moreover, high frequency of DNM2 mutations indicated that these mutations could be utilized in detection of minimal residual disease in T-ALL patients.</description><subject>Adult</subject><subject>Dynamin II - genetics</subject><subject>Humans</subject><subject>Mutation - genetics</subject><subject>Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics</subject><subject>T-Lymphocytes</subject><issn>2476-762X</issn><issn>1513-7368</issn><issn>2476-762X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkMlOwzAURS0EolD4BJCXsEiIp9hdoaplKEqhi4LYWS-OQw2ZlAGpf08HqMrqXenqnicdhC5I4DMihLwZzp5GM58GlPmU-9wnVMgDdEK5DD0Z0vfDvdxDp03zGQRcKCmOUY9JQkLC1Ql6m-RV5gy0rixwmeLxsoDcFR7FV-PnKb3G067dlA12BR4mXdbiuWdsluGh6VqLo2VeLco4g6Z1Bke2-7K5gzN0lELW2PPf20ev93fz0aMXvTxMRsPIM1QK6QElgoICSEWaAGcBkEGYEAWE0VgqKtnAJipJRaAEDWMjYyWAE2JVQg0Yxvrodsutuji3ibFFW0Omq9rlUC91CU7_bwq30B_ltyYBEyu8WhHElmDqsmlqm-7GJNAb03pjWq9Na8o112vTq93l_ufd6k8t-wG1XHq7</recordid><startdate>20230401</startdate><enddate>20230401</enddate><creator>Sobh, Marwa</creator><creator>Aref, Salah</creator><creator>Al Agdar, Mohamed</creator><creator>El Zafrany, Maha</creator><creator>El-Sokkary, Ahmed M A</creator><general>West Asia Organization for Cancer Prevention</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-4822-5204</orcidid></search><sort><creationdate>20230401</creationdate><title>Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia</title><author>Sobh, Marwa ; Aref, Salah ; Al Agdar, Mohamed ; El Zafrany, Maha ; El-Sokkary, Ahmed M A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2757-a2152a8aaf5fda430a196d18a132b782739ed8df508526bc7b85a411e8d2cac33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Adult</topic><topic>Dynamin II - genetics</topic><topic>Humans</topic><topic>Mutation - genetics</topic><topic>Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics</topic><topic>T-Lymphocytes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sobh, Marwa</creatorcontrib><creatorcontrib>Aref, Salah</creatorcontrib><creatorcontrib>Al Agdar, Mohamed</creatorcontrib><creatorcontrib>El Zafrany, Maha</creatorcontrib><creatorcontrib>El-Sokkary, Ahmed M A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Asian Pacific Journal of Cancer Prevention</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sobh, Marwa</au><au>Aref, Salah</au><au>Al Agdar, Mohamed</au><au>El Zafrany, Maha</au><au>El-Sokkary, Ahmed M A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia</atitle><jtitle>Asian Pacific Journal of Cancer Prevention</jtitle><addtitle>Asian Pac J Cancer Prev</addtitle><date>2023-04-01</date><risdate>2023</risdate><volume>24</volume><issue>4</issue><spage>1257</spage><epage>1264</epage><pages>1257-1264</pages><issn>2476-762X</issn><issn>1513-7368</issn><eissn>2476-762X</eissn><abstract>The objective of the present study was to improve the risk stratification of T-cell Acute Lymphoblastic Leukemia (T-ALL) patients. It aimed to identify the frequency and clinical impact of DNM2 gene mutations among adult T-ALL cases.
The current study included 25 T-ALL patients before starting their treatment. Mutational analysis of DNM2 gene (exons 18 and 22) was performed for all patients using Macrogen 3730 apparatus.
We identified DNM2 gene mutations in 19 out of 25 (76%) patients. The detected mutations were either missense or deletion. Only active mutations (deletion) were associated with poor induction remission response and high frequency of relapse. Two novel mutations were addressed among the studied cohort of patients. They included c.1866G>C (p.V596L) and c.1872delA in exon 18. A high frequency of silent mutations was also found in T-ALL patients, but with no impact on clinical features.
The DNM2 mutations were prevalent among adult T-ALL patients and might have a role in the pathogenesis of the disease. Active DNM2 mutations were associated with poor clinical outcome. Moreover, high frequency of DNM2 mutations indicated that these mutations could be utilized in detection of minimal residual disease in T-ALL patients.</abstract><cop>Thailand</cop><pub>West Asia Organization for Cancer Prevention</pub><pmid>37116148</pmid><doi>10.31557/APJCP.2023.24.4.1257</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0002-4822-5204</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adult Dynamin II - genetics Humans Mutation - genetics Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics T-Lymphocytes |
title | Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia |
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