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A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications
Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited fr...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179081/ https://www.ncbi.nlm.nih.gov/pubmed/37176611 http://dx.doi.org/10.3390/jcm12093171 |
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author | Lovatel, Viviane Lamim Bueno, Ana Paula de Kós, Elaiza Almeida Antônio Meyer, Laura Guimarães Corrêa Ferreira, Gerson Moura Kalonji, Mayara de Fátima de Mello, Fabiana Vieira Milito, Cristiane Bedran da Costa, Elaine Sobral Abdelhay, Eliana Redondo, Maria Dolores Tabernero Pombo-de-Oliveira, Maria S. Fernandez, Teresa de Souza |
author_facet | Lovatel, Viviane Lamim Bueno, Ana Paula de Kós, Elaiza Almeida Antônio Meyer, Laura Guimarães Corrêa Ferreira, Gerson Moura Kalonji, Mayara de Fátima de Mello, Fabiana Vieira Milito, Cristiane Bedran da Costa, Elaine Sobral Abdelhay, Eliana Redondo, Maria Dolores Tabernero Pombo-de-Oliveira, Maria S. Fernandez, Teresa de Souza |
author_sort | Lovatel, Viviane Lamim |
collection | PubMed |
description | Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the ANKRD26 and SRP72 variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution. Case presentation: A 4-year-old girl showed repeated infections and severe neutropenia. Bone marrow presented hypocellularity with dysplastic features. The patient had a t(3;8)(p26;q21)c identified by G-banding and FISH analysis. The family nucleus investigation identified the paternal origin of the chromosomal translocation. The NGS study identified ANKRD26 and SRP72 variants of maternal origin. CGH-array analysis detected alterations in PRSS3P2 and KANSL genes. Immunohistochemistry showed abnormal p53 expression during the MDS evolution. Conclusion: This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS. |
format | Online Article Text |
id | pubmed-10179081 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101790812023-05-13 A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications Lovatel, Viviane Lamim Bueno, Ana Paula de Kós, Elaiza Almeida Antônio Meyer, Laura Guimarães Corrêa Ferreira, Gerson Moura Kalonji, Mayara de Fátima de Mello, Fabiana Vieira Milito, Cristiane Bedran da Costa, Elaine Sobral Abdelhay, Eliana Redondo, Maria Dolores Tabernero Pombo-de-Oliveira, Maria S. Fernandez, Teresa de Souza J Clin Med Case Report Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the ANKRD26 and SRP72 variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution. Case presentation: A 4-year-old girl showed repeated infections and severe neutropenia. Bone marrow presented hypocellularity with dysplastic features. The patient had a t(3;8)(p26;q21)c identified by G-banding and FISH analysis. The family nucleus investigation identified the paternal origin of the chromosomal translocation. The NGS study identified ANKRD26 and SRP72 variants of maternal origin. CGH-array analysis detected alterations in PRSS3P2 and KANSL genes. Immunohistochemistry showed abnormal p53 expression during the MDS evolution. Conclusion: This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS. MDPI 2023-04-28 /pmc/articles/PMC10179081/ /pubmed/37176611 http://dx.doi.org/10.3390/jcm12093171 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Lovatel, Viviane Lamim Bueno, Ana Paula de Kós, Elaiza Almeida Antônio Meyer, Laura Guimarães Corrêa Ferreira, Gerson Moura Kalonji, Mayara de Fátima de Mello, Fabiana Vieira Milito, Cristiane Bedran da Costa, Elaine Sobral Abdelhay, Eliana Redondo, Maria Dolores Tabernero Pombo-de-Oliveira, Maria S. Fernandez, Teresa de Souza A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title | A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title_full | A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title_fullStr | A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title_full_unstemmed | A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title_short | A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications |
title_sort | novel constitutional t(3;8)(p26;q21) and ankrd26 and srp72 variants in a child with myelodysplastic neoplasm: clinical implications |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10179081/ https://www.ncbi.nlm.nih.gov/pubmed/37176611 http://dx.doi.org/10.3390/jcm12093171 |
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