Mauhin Wladimir, Levade Thierry, Vanier Marie T, Froissart Roseline, Lidove Olivier
Internal Medicine Department, Groupe Hospitalier Diaconesses Croix Saint Simon, 75020 Paris, France.
Metabolic Biochemistry Laboratory, Reference Center for Hereditary Metabolic Disorders, Biology Institute, Toulouse University Hospital, 31000 Toulouse, France.
J Clin Med. 2021 Oct 28;10(21):5029. doi: 10.3390/jcm10215029.
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the adult chronic visceral ASMD patients in our cohort. Thirty-one patients (12 females, 19 males) were included with a median age of 48.7 y. (IQ: 30.3-55.1). Five cancers were observed in 1 female (breast cancer) and 4 males (two lung cancers, one thyroid cancer and one bladder cancer), resulting in a prevalence of 16.1%. The existence of cancer was associated with a more severe ASMD characterised by a larger spleen (25 cm (22.5-25) vs. 18 cm (17-20); = 0.042); lower diffusing capacity of the lung for carbon monoxide (DLCO; 29.5 % (17.8-43.0) vs. 58.5 % (49.8-69.5%); = 0.01) and tobacco use (100% vs. 45%; = 0.04). Three patients died, all from cancer ( = 0.002). The prevalence of cancer appeared to be strikingly elevated in our cohort of patients, without any specificity in the type of cancer. Systematic screening for cancer should be performed, and carcinogenic substances such as tobacco should be avoided in patients with ASMD.
酸性鞘磷脂酶缺乏症（ASMD）是一种遗传性溶酶体疾病，其特征是鞘磷脂弥漫性积聚，无法分解为神经酰胺和磷酸胆碱。我们研究了ASMD患者的癌症发病率。我们回顾性分析了我们队列中成年慢性内脏型ASMD患者的病历。纳入了31例患者（12例女性，19例男性），中位年龄为48.7岁（四分位间距：30.3 - 55.1）。在1例女性（乳腺癌）和4例男性（2例肺癌、1例甲状腺癌和1例膀胱癌）中观察到5例癌症，患病率为16.1%。癌症的存在与更严重的ASMD相关，其特征为脾脏更大（25 cm（22.5 - 25）vs. 18 cm（17 - 20）；P = 0.042）；肺一氧化碳弥散量（DLCO）更低（29.5%（17.8 - 43.0）vs. 58.5%（49.8 - 69.5%）；P = 0.01）以及吸烟（100% vs. 45%；P = 0.04）。3例患者死亡，均死于癌症（P = 0.002）。在我们的患者队列中，癌症患病率似乎显著升高，且癌症类型无特异性。应对ASMD患者进行系统性癌症筛查，并且应避免他们接触烟草等致癌物质。
