Prevalence of Cancer in Acid Sphingomyelinase Deficiency

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...

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Autores principales:	Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart, Olivier Lidove
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	acid sphingomyelinase deficiency cancer ceramide lysosomal storage disease Niemann–Pick disease Medicine R
Acceso en línea:	https://doaj.org/article/21693f4c34d04450aca938356bb75e80
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spelling	oai:doaj.org-article:21693f4c34d04450aca938356bb75e802021-11-11T17:39:28ZPrevalence of Cancer in Acid Sphingomyelinase Deficiency10.3390/jcm102150292077-0383https://doaj.org/article/21693f4c34d04450aca938356bb75e802021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/5029https://doaj.org/toc/2077-0383Acid 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); <i>p</i> = 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%); <i>p</i> = 0.01) and tobacco use (100% vs. 45%; <i>p</i> = 0.04). Three patients died, all from cancer (<i>p</i> = 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.Wladimir MauhinThierry LevadeMarie T. VanierRoseline FroissartOlivier LidoveMDPI AGarticleacid sphingomyelinase deficiencycancerceramidelysosomal storage diseaseNiemann–Pick diseaseMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5029, p 5029 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	acid sphingomyelinase deficiency cancer ceramide lysosomal storage disease Niemann–Pick disease Medicine R
spellingShingle	acid sphingomyelinase deficiency cancer ceramide lysosomal storage disease Niemann–Pick disease Medicine R Wladimir Mauhin Thierry Levade Marie T. Vanier Roseline Froissart Olivier Lidove Prevalence of Cancer in Acid Sphingomyelinase Deficiency
description	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); <i>p</i> = 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%); <i>p</i> = 0.01) and tobacco use (100% vs. 45%; <i>p</i> = 0.04). Three patients died, all from cancer (<i>p</i> = 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.
format	article
author	Wladimir Mauhin Thierry Levade Marie T. Vanier Roseline Froissart Olivier Lidove
author_facet	Wladimir Mauhin Thierry Levade Marie T. Vanier Roseline Froissart Olivier Lidove
author_sort	Wladimir Mauhin
title	Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_short	Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_full	Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_fullStr	Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_full_unstemmed	Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_sort	prevalence of cancer in acid sphingomyelinase deficiency
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/21693f4c34d04450aca938356bb75e80
work_keys_str_mv	AT wladimirmauhin prevalenceofcancerinacidsphingomyelinasedeficiency AT thierrylevade prevalenceofcancerinacidsphingomyelinasedeficiency AT marietvanier prevalenceofcancerinacidsphingomyelinasedeficiency AT roselinefroissart prevalenceofcancerinacidsphingomyelinasedeficiency AT olivierlidove prevalenceofcancerinacidsphingomyelinasedeficiency
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Prevalence of Cancer in Acid Sphingomyelinase Deficiency

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