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Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma

A 17-year-old male with no previous medical history was admitted 2 days before his death to a local hospital after mild dyspnea. Electrocardiography, chest radiography, and blood analysis revealed no abnormalities. Blood oxygen saturation was 99%, and SARS-CoV-2 nasopharyngeal swabs tested negative;...

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Autores principales: Pigaiani, N., Ausania, F., Tudini, M., Bortolotti, F., Tagliaro, F., Brunelli, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490726/
https://www.ncbi.nlm.nih.gov/pubmed/36129618
http://dx.doi.org/10.1007/s12024-022-00525-x
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author Pigaiani, N.
Ausania, F.
Tudini, M.
Bortolotti, F.
Tagliaro, F.
Brunelli, M.
author_facet Pigaiani, N.
Ausania, F.
Tudini, M.
Bortolotti, F.
Tagliaro, F.
Brunelli, M.
author_sort Pigaiani, N.
collection PubMed
description A 17-year-old male with no previous medical history was admitted 2 days before his death to a local hospital after mild dyspnea. Electrocardiography, chest radiography, and blood analysis revealed no abnormalities. Blood oxygen saturation was 99%, and SARS-CoV-2 nasopharyngeal swabs tested negative; thus, he was discharged without prescriptions. After 2 days, the subject died suddenly during a pool party. Forensic autopsy was performed analyzing all anatomical districts. Cardiac causes were fully excluded after deep macroscopic and microscopic evaluation; lung and brain analyses showed no macroscopic pathology. Finally, a large subglottic solid mass was detected. The whitish neoplasm showed an aggressive invasion pattern to the thyroid and adjacent deep soft tissues and occluded the trachea. High-power microscopy showed sheets of small, uniform cells with scant cytoplasm; round nuclei; and small, punctate nucleoli, with immunohistochemical expression of CK8-18, AE1/AE3, and CD99. Using FISH analysis, the break-apart molecular probes (EWSR1 (22q12) Break – XL, Leica Biosystem, Nussloch, Germany) showed distinct broken red and green fluorochromes, diagnostic of Ewing sarcoma. The neoplasm was characterized as adamantinoma-like Ewing sarcoma, and the mechanism of death was identified as airway obstruction. The rarity of the case resides in the circumstances of death, which pointed to the possibility of sudden unexpected death due to heart disease, but an oncological cause and the underlying mechanism were finally diagnosed. The best method to perform autopsies is still complete, extensive, and systematic macroscopic sampling of organs and districts followed by histopathological analysis, in addition to immunohistochemical and molecular investigations in those cases in which they are necessary. In fact, when neoplasms are detected, the application of advanced techniques such as immunohistochemistry and molecular diagnostics is fundamental to accurately certify death.
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spelling pubmed-94907262022-09-21 Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma Pigaiani, N. Ausania, F. Tudini, M. Bortolotti, F. Tagliaro, F. Brunelli, M. Forensic Sci Med Pathol Images in Forensics A 17-year-old male with no previous medical history was admitted 2 days before his death to a local hospital after mild dyspnea. Electrocardiography, chest radiography, and blood analysis revealed no abnormalities. Blood oxygen saturation was 99%, and SARS-CoV-2 nasopharyngeal swabs tested negative; thus, he was discharged without prescriptions. After 2 days, the subject died suddenly during a pool party. Forensic autopsy was performed analyzing all anatomical districts. Cardiac causes were fully excluded after deep macroscopic and microscopic evaluation; lung and brain analyses showed no macroscopic pathology. Finally, a large subglottic solid mass was detected. The whitish neoplasm showed an aggressive invasion pattern to the thyroid and adjacent deep soft tissues and occluded the trachea. High-power microscopy showed sheets of small, uniform cells with scant cytoplasm; round nuclei; and small, punctate nucleoli, with immunohistochemical expression of CK8-18, AE1/AE3, and CD99. Using FISH analysis, the break-apart molecular probes (EWSR1 (22q12) Break – XL, Leica Biosystem, Nussloch, Germany) showed distinct broken red and green fluorochromes, diagnostic of Ewing sarcoma. The neoplasm was characterized as adamantinoma-like Ewing sarcoma, and the mechanism of death was identified as airway obstruction. The rarity of the case resides in the circumstances of death, which pointed to the possibility of sudden unexpected death due to heart disease, but an oncological cause and the underlying mechanism were finally diagnosed. The best method to perform autopsies is still complete, extensive, and systematic macroscopic sampling of organs and districts followed by histopathological analysis, in addition to immunohistochemical and molecular investigations in those cases in which they are necessary. In fact, when neoplasms are detected, the application of advanced techniques such as immunohistochemistry and molecular diagnostics is fundamental to accurately certify death. Springer US 2022-09-21 2022 /pmc/articles/PMC9490726/ /pubmed/36129618 http://dx.doi.org/10.1007/s12024-022-00525-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Images in Forensics
Pigaiani, N.
Ausania, F.
Tudini, M.
Bortolotti, F.
Tagliaro, F.
Brunelli, M.
Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title_full Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title_fullStr Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title_full_unstemmed Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title_short Sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like Ewing sarcoma
title_sort sudden unexpected death in a 17-year-old boy due to unacknowledged adamantinoma-like ewing sarcoma
topic Images in Forensics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490726/
https://www.ncbi.nlm.nih.gov/pubmed/36129618
http://dx.doi.org/10.1007/s12024-022-00525-x
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