Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia
| Autor: | Howard M. Lederman, Michael F. Wangler, Andrea M. Lewis, Michael B. Kastan, Sei Gyung K. Sze, Harpreet Dibra, Daniel S. Wechsler, Alex M. Taylor, Thomas O. Crawford |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Adolescent T-cell leukemia Ataxia Telangiectasia Mutated Proteins Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Ataxia Telangiectasia 03 medical and health sciences 0302 clinical medicine Breast cancer hemic and lymphatic diseases Cancer screening medicine Cerebellar Degeneration Humans Retrospective Studies Genetic heterogeneity business.industry Retrospective cohort study Hematology Prognosis medicine.disease Combined Modality Therapy Leukemia Oncology 030220 oncology & carcinogenesis Mutation Pediatrics Perinatology and Child Health Ataxia-telangiectasia Female business 030215 immunology |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 43:e138-e140 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0000000000001672 |
| Popis: | Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar degeneration that is typically diagnosed in early childhood. A-T is associated with a predisposition to malignancies, particularly lymphoid tumors in childhood and early adulthood. An adolescent girl with minimal neurologic symptoms was diagnosed with A-T 8 years after completing therapy for T-cell acute lymphoblastic leukemia, following a diagnosis of ATM-mutated breast cancer in her mother. We highlight the importance of recognizing ATM mutations in T-cell acute lymphoblastic leukemia, appreciating the phenotypic heterogeneity of A-T, and defining optimal cancer screening in A-T patients. |
| Databáze: | OpenAIRE |
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