Extreme acute radiation-induced toxicity in a patient with polymorphous low-grade adenocarcinoma of the nasopharynx and rare variants in DNA repair genes.

Autor: Nowicka Z; Department of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland., Kuna K; Department of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland., Stawiski K; Department of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland.; Department of Radiotherapy, Medical University of Łódź, Łódź, Poland., Sołek J; Department of Pathology, Chair of Oncology, Medical University of Łódź, Łódź, Poland., Świderek M; Department of Radiotherapy, Medical University of Łódź, Łódź, Poland., Papis-Ubych A; Department of Radiotherapy, Medical University of Łódź, Łódź, Poland., Fijuth J; Department of Radiotherapy, Medical University of Łódź, Łódź, Poland., Fendler W; Department of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland.; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Tomasik B; Department of Biostatistics and Translational Medicine, Medical University of Łódź, Łódź, Poland.; Department of Oncology and Radiotherapy, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland.
Jazyk: angličtina
Zdroj: Head & neck [Head Neck] 2024 Feb; Vol. 46 (2), pp. E10-E17. Date of Electronic Publication: 2023 Oct 22.
DOI: 10.1002/hed.27555
Abstrakt: Background: Polymorphous low-grade adenocarcinoma (PLGA) is an extremely rare finding in the nasopharynx. There are no guidelines for the treatment of PLGA in this localization. Radiotherapy may be administered to treat this malignancy; however, in radiosensitive individuals, it is associated with a risk of severe radiotherapy-induced toxicity.
Methods: We present a case of a 73-year-old woman with locally advanced polymorphous low-grade adenocarcinoma of the nasopharynx who developed a severe adverse acute reaction to radiotherapy leading to treatment discontinuation. Despite intensive treatment, the patient died 40 days after RT initiation. Whole genome sequencing was performed using DNA from peripheral blood mononuclear cells in the search for variants that could explain such extreme toxicity.
Results: We identified a combination of pathogenic variants that may have contributed to the patient's reaction to radiation therapy, including predisposing variants in XRCC1, XRCC3, and LIG4. We also identified candidate variants, not previously described in this context, which could be associated with radiation toxicity based on plausible mechanisms. We discuss previous reports of this rare tumor from the literature and known contributors to radiation-induced toxicity.
Conclusions: Genetic causes should be considered in cases of extreme radiosensitivity, especially when is not explained by clinical factors.
(© 2023 The Authors. Head & Neck published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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