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Lookup NU author(s): Dr Simon BomkenORCiD,
Professor Andrew GenneryORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. Patients with double stranded DNA repair disorders (DNARDs) (Ataxia Telangiectasia (AT) and Nijmegen Breakage syndrome (NBS)) are at a very high risk for developing hematological malignancies in the first two decades of life. The most common neoplasms are T-cell lymphoblastic malignancies (T-cell ALL and T-cell LBL) and diffuse large B cell lymphoma (DLBCL). Treatment of these patients is challenging due to severe complications of the repair disorder itself (e.g., congenital defects, progressive movement disorders, immunological disturbances and progressive lung disease) and excessive toxicity resulting from chemotherapeutic treatment. Frequent complications during treatment for malignancies are deterioration of pre-existing lung disease, neurological complications, severe mucositis, life threating infections and feeding difficulties leading to significant malnutrition. These complications make modifications to commonly used treatment protocols necessary in almost all patients. Considering the rarity of DNARDs it is difficult for individual physicians to obtain sufficient experience in treating these vulnerable patients. Therefore, a team of experts assembled all available knowledge and translated this information into best available evidence-based treatment recommendations.
Author(s): Pastorczak A, Attarbaschi A, Bomken S, Borkhardt A, van der Werff ten Bosch J, Elitzur S, Gennery AR, Hlavackova E, Kerekes A, Krenova Z, Mlynarski W, Szczepanski T, Wassenberg T, Loeffen J
Publication type: Review
Publication status: Published
Online publication date: 14/04/2022
Acceptance date: 11/04/2022
ISSN (electronic): 2072-6694