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Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia

BACKGROUND: 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. METHODS: The current study included 25 T-ALL patients...

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Autores principales: Sobh, Marwa, Aref, Salah, Al Agdar, Mohamed, El Zafrany, Maha, El-Sokkary, Ahmed M.A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: West Asia Organization for Cancer Prevention 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352738/
https://www.ncbi.nlm.nih.gov/pubmed/37116148
http://dx.doi.org/10.31557/APJCP.2023.24.4.1257
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author Sobh, Marwa
Aref, Salah
Al Agdar, Mohamed
El Zafrany, Maha
El-Sokkary, Ahmed M.A
author_facet Sobh, Marwa
Aref, Salah
Al Agdar, Mohamed
El Zafrany, Maha
El-Sokkary, Ahmed M.A
author_sort Sobh, Marwa
collection PubMed
description BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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spelling pubmed-103527382023-07-19 Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia Sobh, Marwa Aref, Salah Al Agdar, Mohamed El Zafrany, Maha El-Sokkary, Ahmed M.A Asian Pac J Cancer Prev Research Article BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. West Asia Organization for Cancer Prevention 2023 /pmc/articles/PMC10352738/ /pubmed/37116148 http://dx.doi.org/10.31557/APJCP.2023.24.4.1257 Text en https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-Non Commercial 4.0 International License. (https://creativecommons.org/licenses/by-nc/4.0/)
spellingShingle Research Article
Sobh, Marwa
Aref, Salah
Al Agdar, Mohamed
El Zafrany, Maha
El-Sokkary, Ahmed M.A
Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title_full Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title_fullStr Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title_full_unstemmed Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title_short Implication of Dynamin-2 (DNM2) Mutations in Adult T-cell Acute Lymphoblastic Leukemia
title_sort implication of dynamin-2 (dnm2) mutations in adult t-cell acute lymphoblastic leukemia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352738/
https://www.ncbi.nlm.nih.gov/pubmed/37116148
http://dx.doi.org/10.31557/APJCP.2023.24.4.1257
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