Tsur Nir, Frig Omri, Steinberg-Shemer Orna, Tamary Hannah, Kurman Noga, Mizrachi Aviram, Popovtzer Aron
Departments of Otolaryngology-Head and Neck Surgery.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Isr Med Assoc J. 2022 Aug;24(8):491-496.
Recent studies show a high risk of developing malignancy in patients with Fanconi anemia. The most common solid tumor in this condition is head and neck squamous cell carcinoma (HNSCC) and there is often uncertainty and about disease behavior as well as chemotherapy and radiation response.
To describe and characterize HNSCC among Fanconi anemia patients on the Israeli Fanconi Registry.
Our study population included patients in Israel's inherited bone marrow failure registry who were diagnosed with Fanconi anemia between1980 and 2016. Demographic, clinical, and laboratory data were collected from patient charts.
From the collected data, HNSCC was confirmed in 6/111 (5.4%) Fanconi anemia patients; 1 (17%) had classic HNSCC risk factors of tobacco abuse and 4 (56%) had undergone primary surgery. The 3 (50%) receiving concurrent chemoradiotherapy had mild side effects, while half developed metachronous primary malignancy, and all developed > 2 primary malignancies. The overall median survival of the patients in our study was 14 (0.5-57) months.
Fanconi anemia patients have a very high risk of developing HNSCC. Proactive screening for malignancies is needed for the head and neck regions. We also found that chemoradiotherapy can be used safely in high-stage cancers.
近期研究表明,范可尼贫血患者发生恶性肿瘤的风险很高。这种情况下最常见的实体瘤是头颈部鳞状细胞癌(HNSCC),而且对于疾病行为以及化疗和放疗反应往往存在不确定性。
描述并表征以色列范可尼登记处中范可尼贫血患者的HNSCC情况。
我们的研究人群包括以色列遗传性骨髓衰竭登记处中1980年至2016年间被诊断为范可尼贫血的患者。从患者病历中收集人口统计学、临床和实验室数据。
从收集的数据来看,111例范可尼贫血患者中有6例(5.4%)确诊为HNSCC;1例(17%)有吸烟这一经典的HNSCC危险因素,4例(56%)接受了初次手术。3例(50%)接受同步放化疗的患者有轻微副作用,而半数发生异时性原发性恶性肿瘤,且所有患者都发生了>2种原发性恶性肿瘤。我们研究中患者的总体中位生存期为14(0.5 - 57)个月。
范可尼贫血患者发生HNSCC的风险非常高。对头颈部区域需要积极进行恶性肿瘤筛查。我们还发现放化疗可安全用于晚期癌症。