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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: Mauhin, Wladimir, Levade, Thierry, Vanier, Marie T., Froissart, Roseline, Lidove, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584997/
https://www.ncbi.nlm.nih.gov/pubmed/34768550
http://dx.doi.org/10.3390/jcm10215029
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author Mauhin, Wladimir
Levade, Thierry
Vanier, Marie T.
Froissart, Roseline
Lidove, Olivier
author_facet Mauhin, Wladimir
Levade, Thierry
Vanier, Marie T.
Froissart, Roseline
Lidove, Olivier
author_sort Mauhin, Wladimir
collection PubMed
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); p = 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%); p = 0.01) and tobacco use (100% vs. 45%; p = 0.04). Three patients died, all from cancer (p = 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.
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spelling pubmed-85849972021-11-12 Prevalence of Cancer in Acid Sphingomyelinase Deficiency Mauhin, Wladimir Levade, Thierry Vanier, Marie T. Froissart, Roseline Lidove, Olivier J Clin Med Article 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); p = 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%); p = 0.01) and tobacco use (100% vs. 45%; p = 0.04). Three patients died, all from cancer (p = 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. MDPI 2021-10-28 /pmc/articles/PMC8584997/ /pubmed/34768550 http://dx.doi.org/10.3390/jcm10215029 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Mauhin, Wladimir
Levade, Thierry
Vanier, Marie T.
Froissart, Roseline
Lidove, Olivier
Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title 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_short Prevalence of Cancer in Acid Sphingomyelinase Deficiency
title_sort prevalence of cancer in acid sphingomyelinase deficiency
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584997/
https://www.ncbi.nlm.nih.gov/pubmed/34768550
http://dx.doi.org/10.3390/jcm10215029
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