Abstract |
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosomal breakage syndrome caused by mutation of the ATM (A-T mutated) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. Approximately, 10% of A-T patients develop lymphoid malignancies. Deaths caused by extreme sensitivity to chemotherapy for malignancy have been reported, and cancer treatment in A-T is extraordinarily difficult, needing careful monitoring and individualized protocols. We report the case of a 12-year-old girl with A-T diagnosed at the age of 3 in association with IgA deficiency and recurrent pulmonary infections. Sanger sequencing revealed compound heterozygosity of the ATM gene, which bore two novel mutations. At the age of 12, she developed stage IV T-cell/histiocyte-rich large B-cell lymphoma. The tumor was resistant to chemotherapy, and she unfortunately died of cardiac insufficiency and multiple organ failure induced by rapid progression of the disease. The treatment approach for children with A-T and advanced-stage B- non-Hodgkin lymphoma must be refined.
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Authors | Daichi Sato, Kunihiko Moriya, Tomohiro Nakano, Chihiro Miyagawa, Saori Katayama, Hidetaka Niizuma, Yoji Sasahara, Shigeo Kure |
Journal | International journal of hematology
(Int J Hematol)
Vol. 114
Issue 6
Pg. 735-741
(Dec 2021)
ISSN: 1865-3774 [Electronic] Japan |
PMID | 34424493
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2021. Japanese Society of Hematology. |
Chemical References |
- Biomarkers, Tumor
- Ataxia Telangiectasia Mutated Proteins
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Topics |
- Alleles
- Ataxia Telangiectasia
(complications, diagnosis, drug therapy, genetics)
- Ataxia Telangiectasia Mutated Proteins
(genetics, metabolism)
- Biomarkers, Tumor
- Child, Preschool
- Disease Management
- Disease Susceptibility
- Female
- Gene Expression
- Heterozygote
- Histiocytes
(pathology)
- Humans
- Lymphoma, Large B-Cell, Diffuse
(diagnosis, drug therapy, etiology)
- Magnetic Resonance Imaging
- Mutation
- Pedigree
- T-Lymphocytes
(pathology)
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