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A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology

Sarcoma pathology discrepancy is well known owing to the extremely heterogenous and rare nature of this tumour. Through this case, we want to highlight the difficulty that a patient has to undergo in a case of misdiagnosis. A 20-year-old male presented with swelling in the right foot for 4 months, w...

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Autores principales: Rajendran, Anand, Gupta, Gaurav, Barwad, Adarsh, Rastogi, Sameer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cancer Intelligence 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666273/
https://www.ncbi.nlm.nih.gov/pubmed/36405939
http://dx.doi.org/10.3332/ecancer.2022.1459
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author Rajendran, Anand
Gupta, Gaurav
Barwad, Adarsh
Rastogi, Sameer
author_facet Rajendran, Anand
Gupta, Gaurav
Barwad, Adarsh
Rastogi, Sameer
author_sort Rajendran, Anand
collection PubMed
description Sarcoma pathology discrepancy is well known owing to the extremely heterogenous and rare nature of this tumour. Through this case, we want to highlight the difficulty that a patient has to undergo in a case of misdiagnosis. A 20-year-old male presented with swelling in the right foot for 4 months, which was initially diagnosed as alveolar rhabdomyosarcoma, subsequently as synovial sarcoma and finally as Ewing’s sarcoma (based upon positive Ewing Sarcoma Breakpoint Region 1 (EWSR1) by fluorescence in situ hybridisation and he underwent neoadjuvant chemotherapy and surgical excision with grafting before he presented to our institute, where the pathologists reviewed the biopsy slides, which were positive for HMB45 and negative for Melan-A suggestive of clear cell sarcoma. The next-generation sequencing suggested EWSR1-ATF1 fusion, which again reinforced the diagnosis. This case throws light on the importance of expert pathology and interpreting molecular results in the right context.
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spelling pubmed-96662732022-11-18 A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology Rajendran, Anand Gupta, Gaurav Barwad, Adarsh Rastogi, Sameer Ecancermedicalscience Research Sarcoma pathology discrepancy is well known owing to the extremely heterogenous and rare nature of this tumour. Through this case, we want to highlight the difficulty that a patient has to undergo in a case of misdiagnosis. A 20-year-old male presented with swelling in the right foot for 4 months, which was initially diagnosed as alveolar rhabdomyosarcoma, subsequently as synovial sarcoma and finally as Ewing’s sarcoma (based upon positive Ewing Sarcoma Breakpoint Region 1 (EWSR1) by fluorescence in situ hybridisation and he underwent neoadjuvant chemotherapy and surgical excision with grafting before he presented to our institute, where the pathologists reviewed the biopsy slides, which were positive for HMB45 and negative for Melan-A suggestive of clear cell sarcoma. The next-generation sequencing suggested EWSR1-ATF1 fusion, which again reinforced the diagnosis. This case throws light on the importance of expert pathology and interpreting molecular results in the right context. Cancer Intelligence 2022-10-31 /pmc/articles/PMC9666273/ /pubmed/36405939 http://dx.doi.org/10.3332/ecancer.2022.1459 Text en © the authors; licensee ecancermedicalscience. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Rajendran, Anand
Gupta, Gaurav
Barwad, Adarsh
Rastogi, Sameer
A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title_full A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title_fullStr A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title_full_unstemmed A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title_short A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
title_sort rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis—the importance of expert sarcoma pathology
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666273/
https://www.ncbi.nlm.nih.gov/pubmed/36405939
http://dx.doi.org/10.3332/ecancer.2022.1459
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