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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8584997 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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