A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications

被引:2
|
作者
Lovatel, Viviane Lamim [1 ]
Bueno, Ana Paula [2 ,3 ]
de Kos, Elaiza Almeida Antonio [1 ]
Meyer, Laura Guimaraes Correa [4 ]
Ferreira, Gerson Moura [5 ]
Kalonji, Mayara de Fatima [2 ]
de Mello, Fabiana Vieira [2 ]
Milito, Cristiane Bedran [3 ]
da Costa, Elaine Sobral [2 ]
Abdelhay, Eliana [5 ]
Redondo, Maria Dolores Tabernero [6 ]
Pombo-de-Oliveira, Maria S. [7 ]
Fernandez, Teresa de Souza [1 ]
机构
[1] Inst Nacl Canc INCA, Cell & Gene Therapy Program, Cytogenet Lab, BR-20230130 Rio De Janeiro, Brazil
[2] Univ Fed Rio De Janeiro, Inst Puericultura & Pediat Martagao Gesteira, BR-21941909 Rio De Janeiro, Brazil
[3] Univ Fed Rio de Janeiro, Pathol Dept, BR-21941599 Rio De Janeiro, Brazil
[4] Inst Nacl Canc, Bone Marrow Transplantat Ctr, Outpatient Dept, BR-20230130 Rio De Janeiro, Brazil
[5] Inst Nacl Canc, Stem Cell Lab, Bone Marrow Transplantat Ctr, BR-20230130 Rio De Janeiro, Brazil
[6] Inst Invest Biomed Salamanca IBSAL, Salamanca 37007, Spain
[7] Inst Nacl Canc INCA, Res Ctr, BR-20231050 Rio De Janeiro, Brazil
关键词
childhood myelodysplastic neoplasm; constitutional cytogenetic abnormality; genetic variants; HEMATOPOIETIC-CELL TRANSPLANTATION; CHROMOSOME-ABERRATIONS; GENE;
D O I
10.3390/jcm12093171
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:9
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