Fanconi's anemia and clinical radiosensitivity -: Report on two adult patients with locally advanced solid tumors treated by radiotherapy
Fanconi's anemia and clinical radiosensitivity -: Report on two adult patients with locally advanced solid tumors treated by radiotherapy
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DOI：
10.1007/s00066-003-1099-8
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发表时间：
2003-11-01
影响因子：
3.1
通讯作者：
Karstens, JH
中科院分区：
文献类型：
--
作者：
Bremer, M;Schindler, D;Karstens, JH
背景：范可尼贫血（Fanconi’s anemia， FA）患者可能表现出不同程度的临床放射敏感性增高，尽管详细的临床资料很少。我们报告了两个病例，以强调FA患者放射治疗可能面临的挑战。病例报告和结果：2例24岁和32岁的男性FA患者接受了局部晚期鳞状细胞头颈癌的明确放疗。在第一位患者中，在67gy的分娩后，采用部分超分割的分疗程治疗方案，同时，卡铂治疗一个疗程，然后进行挽救性颈部清扫，可以实现长期的肿瘤控制。急性毒性明显，但未发生严重的治疗相关的晚期效应。5年后，由于第二次（肛门鳞状细胞癌）和第三次（头颈部鳞状细胞癌）原发，患者屈服，进行了额外的放疗。相比之下，第二例患者仅在8 Gy的高分割放疗后出现致命的急性血液学毒性。虽然FA的诊断可以基于对第二例患者淋巴细胞培养的流式细胞术分析，但由于完全的体细胞淋巴造血嵌合体，第一位患者的诊断必须通过对成纤维细胞系丝裂霉素的过敏来证实。在该患者中，表型互补和分子遗传分析显示了FANCA基因的致病性突变。第一位患者直到出现第二个肿瘤时才被认为患有FA。结论：年轻时出现头颈部或肛门鳞状细胞癌的患者应考虑FA。FA的诊断对于指导最佳治疗选择具有直接的重要性。在个别病例中，放疗甚至放化疗似乎是可行和有效的。
Background: Patients with Fanconi's anemia (FA) may exhibit an increased clinical radiosensitivity of various degree, although detailed clinical data are scarce. We report on two cases to underline the possible challenges in the radiotherapy of FA patients.Case Report and Results: Two 24- and 32-year-old male patients with FA were treated by definitive radiotherapy for Locally advanced squamous cell head and neck cancers. In the first patient, long-term tumor control could be achieved after delivery of 67 Gy with a - in part - hyperfractionated split-course treatment regimen and, concurrently, one course of carboplatin followed by salvage neck dissection. Acute toxicity was marked, but no severe treatment-related Late effects occurred. 5 years Later, additional radiotherapy was administered due to a second (squamous cell carcinoma of the anus) and third (squamous cell carcinoma of the head and neck) primary, which the patient succumbed to. By contrast, the second patient experienced fatal acute hematologic toxicity after delivery of only 8 Gy of hyperfractionated radiotherapy. While the diagnosis FA could be based on flow cytometric analysis of a Lymphocyte culture in the second patient, the diagnosis in the first patient had to be confirmed by hypersensitivity to mitomycin of a fibroblast cell Line due to complete somatic Lymphohematopoietic mosaicism. In this patient, phenotype complementation and molecular genetic analysis revealed a pathogenic mutation in the FANCA gene. The first patient has not been considered to have FA until he presented with his second tumor.Conclusion: FA has to be considered in patients presenting at young age with squamous cell carcinoma of the head and neck or anus. The diagnosis FA is of immediate importance for guiding the optimal choice of treatment. Radiotherapy or even radiochemotherapy seems to be feasible and effective in individual cases.