未经证实:软骨毛发发育不全(CHH)患者患恶性肿瘤的风险增加,特别是非霍奇金淋巴瘤和基底细胞癌。的特点,临床课程,CHH患者对淋巴瘤治疗和预后的反应仍未被研究.
UNASSIGNED:我们评估了芬兰CHH患者淋巴瘤病例的临床特征。数据来自芬兰癌症登记处,医院记录,芬兰统计国家医学数据库和死因登记。
未经证实:在160名CHH患者中,16(6人,10名妇女)在1953-2016年期间被诊断出患有淋巴瘤。淋巴瘤被诊断为年轻成年期(中位年龄26.4岁,范围从6.4到69.5年),主要是在高级阶段。最常见的淋巴瘤类型是弥漫性大细胞B细胞淋巴瘤(DLBCL)(6/16,38%)。8例患者接受化疗(8/16,50%),其中两个幸存下来。在大多数病例中给予标准淋巴瘤化疗方案。总之,11例CHH患者因淋巴瘤死亡(11/16,69%)。在几乎所有幸存的淋巴瘤患者中,在常规随访期间或评估非特异性轻度症状后做出诊断.搜索与CHH相关的临床预测因子表明反复呼吸道感染的患病率更高,尤其是中耳炎,淋巴瘤患者的Hirschsprung病。然而,3例患者在淋巴瘤诊断前没有免疫缺陷的临床症状.
未经证实:DLBCL是CHH中最常见的淋巴瘤类型。结果较差,可能是由于诊断时淋巴瘤的晚期。其他CHH相关表现很难预测淋巴瘤的发展,这意味着所有CHH患者都应定期进行恶性肿瘤筛查。
UNASSIGNED: Patients with cartilage-hair hypoplasia (CHH) have an increased risk of malignancy, particularly non-Hodgkin lymphoma and basal cell carcinoma. The characteristics, clinical course, response to therapy and outcome of lymphomas in CHH remains unexplored.
UNASSIGNED: We assessed clinical features of lymphoma cases among Finnish patients with CHH. Data were collected from the Finnish Cancer Registry, hospital records, the National Medical Databases and Cause-of-Death Registry of Statistics Finland.
UNASSIGNED: Among the 160 CHH patients, 16 (6 men, 10 women) were diagnosed with lymphoma during 1953-2016. Lymphoma was diagnosed in young adulthood (median age 26.4 years, range from 6.4 to 69.5 years), mostly in advanced stage. The most common lymphoma type was diffuse large cell B-cell lymphoma (DLBCL) (6/16, 38%). Eight patients received chemotherapy (8/16, 50%), and two of them survived. Standard lymphoma chemotherapy regimens were administered in the majority of cases. Altogether, eleven CHH patients died due to lymphomas (11/16, 69%). In almost all surviving lymphoma patients, the diagnosis was made either during routine follow-up or after evaluation for non-specific mild symptoms. Search for CHH-related clinical predictors demonstrated higher prevalence of recurrent respiratory infections, in particular otitis media, and Hirschsprung disease in patients with lymphoma. However, three patients had no clinical signs of immunodeficiency prior to lymphoma diagnosis.
UNASSIGNED: DLBCL is the most common type of lymphoma in CHH. The outcome is poor probably due to advanced stage of lymphoma at the time of diagnosis. Other CHH-related manifestations poorly predicted lymphoma development, implying that all CHH patients should be regularly screened for malignancy.