Gould Nathan J, Holjak Emma J B, Barat Jalal, Tay Keng Yeow, Dar A Rashid
Schulich School of Medicine and Dentistry, Western University, London, CAN.
Radiology, Victoria Hospital, London, CAN.
Cureus. 2024 May 11;16(5):e60107. doi: 10.7759/cureus.60107. eCollection 2024 May.
Bloom syndrome (BS) is a rare autosomal recessive genetic disorder characterized by photosensitivity, rashes on the nose and cheeks, short stature, and a predisposition to develop cancers. In this report, we discuss the diagnosis and management of a 34-year-old Canadian male BS patient, originally from Honduras, who developed B-cell lymphoma and a subsequent non-small cell lung carcinoma (NSCLC). Given the radiosensitivity of the patient due to his BS diagnosis and the early stage of the low-grade B-cell lymphoma, we relied on surveillance as the clinical approach to his management. The treatment for NSCLC was initiated in stage III of the disease and was palliative in intent. Chemotherapy (12 rounds of paclitaxel, with the dosage gradually increasing from 48 mg to 58 mg and finally to 72 mg) was employed to shrink the left upper lobe (LUL) lung mass. Subsequently, radiotherapy (3000 cGY in 20 fractions) was administered to improve symptoms further. The radiotherapy dose schedule was modified given the patient's BS diagnosis to avoid excessive toxicity. The palliative treatment course was well tolerated by the patient and resulted in symptom relief. However, his cancer progressed over the course of the treatment, ultimately resulting in his death 18 months after the initial diagnosis of NSCLC; no autopsy was performed. We believe this report will spur clinicians to engage in fruitful discussions about tailoring chemotherapy and radiation therapy regimens for treating cancer in BS patients.
布卢姆综合征（BS）是一种罕见的常染色体隐性遗传病，其特征为光敏性、鼻和脸颊出现皮疹、身材矮小以及易患癌症。在本报告中，我们讨论了一名34岁加拿大男性BS患者的诊断和治疗情况，该患者原籍洪都拉斯，患了B细胞淋巴瘤，随后又患上非小细胞肺癌（NSCLC）。鉴于该患者因BS诊断而具有放射敏感性，且低级别B细胞淋巴瘤处于早期阶段，我们采用监测作为其治疗的临床方法。NSCLC的治疗在疾病III期开始，目的是姑息治疗。采用化疗（12轮紫杉醇，剂量从48毫克逐渐增加到58毫克，最终增至72毫克）来缩小左上叶（LUL）肺部肿块。随后，进行放射治疗（20次分割，共3000厘戈瑞）以进一步改善症状。鉴于患者的BS诊断，对放疗剂量方案进行了调整，以避免过度毒性。姑息治疗过程患者耐受性良好，症状得到缓解。然而，他的癌症在治疗过程中进展，最终在NSCLC初次诊断18个月后死亡；未进行尸检。我们相信本报告将促使临床医生就为BS患者量身定制癌症化疗和放疗方案展开富有成效的讨论。
