Use of a Therapeutic Trial of Graduated Neoadjuvant Radiation Therapy for Locally Advanced Esophageal Cancer in a Patient With Fanconi Anemia.

Use of a Therapeutic Trial of Graduated Neoadjuvant Radiation Therapy for Locally Advanced Esophageal Cancer in a Patient With Fanconi Anemia.
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DOI:
10.1016/j.adro.2021.100810
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发表时间:
2022-01
影响因子:
2.3
通讯作者:
Grossberg AJ
Grossberg AJ
中科院分区:
其他
文献类型:
--
作者:
Gardner UG Jr;Wood SG;Chen EY;Greenberger JS;Grossberg AJ

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Fanconi anemia (FA) is a rare and inherited disorder leading to an inability to repair DNA by homologous recombination. 1, 2 The product of the FA pathway is DNA stability through interstrand crosslink repair. 3 A loss of function in the FA pathway causes cell hypersensitivity to genotoxic stress, results in a loss of hematopoietic stem cells, and increases the predilection to certain malignancies. 3, 4, 5The presentation of FA is highly genotypically and phenotypically heterogenous. Manifestations include aplastic anemia, birth defects, physical abnormalities, and endocrine dysfunction. 6, 7, 8 FA is strongly associated with the development of malignancies, specifically of the esophagus, vulvar, and head and neck region. 9, 10 Squamous cell carcinoma (SCC) of the head and neck region is the most common solid tumor in patients with FA with up to a 700-fold increase in relative risk. 11, 12
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