Cargando…

A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment

In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teen...

Descripción completa

Detalles Bibliográficos
Autores principales: Kedia, Ansh, Singh, Gurpreet, Parmar, Subhangi, Varsha, Hima, Tango, Tamara, Agarwal, Pahel, Sahu, Sweta, Chauhan, Dharmesh R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039981/
https://www.ncbi.nlm.nih.gov/pubmed/36987488
http://dx.doi.org/10.7759/cureus.35389
_version_ 1784912384746323968
author Kedia, Ansh
Singh, Gurpreet
Parmar, Subhangi
Varsha, Hima
Tango, Tamara
Agarwal, Pahel
Sahu, Sweta
Chauhan, Dharmesh R
author_facet Kedia, Ansh
Singh, Gurpreet
Parmar, Subhangi
Varsha, Hima
Tango, Tamara
Agarwal, Pahel
Sahu, Sweta
Chauhan, Dharmesh R
author_sort Kedia, Ansh
collection PubMed
description In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teenagers and young adults, and it is more prevalent in men. It can form in both bone and soft tissue, and it appears most frequently in the pelvis, lower extremities, and paraspinal region. Here, we describe a case of a soft tissue tumour in the proximal posterior portion of the right thigh of a 12-year-old male that was subsequently shown to be a BCOR-CCNB3 fusion using genetic analysis.
format Online
Article
Text
id pubmed-10039981
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-100399812023-03-27 A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment Kedia, Ansh Singh, Gurpreet Parmar, Subhangi Varsha, Hima Tango, Tamara Agarwal, Pahel Sahu, Sweta Chauhan, Dharmesh R Cureus Internal Medicine In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teenagers and young adults, and it is more prevalent in men. It can form in both bone and soft tissue, and it appears most frequently in the pelvis, lower extremities, and paraspinal region. Here, we describe a case of a soft tissue tumour in the proximal posterior portion of the right thigh of a 12-year-old male that was subsequently shown to be a BCOR-CCNB3 fusion using genetic analysis. Cureus 2023-02-23 /pmc/articles/PMC10039981/ /pubmed/36987488 http://dx.doi.org/10.7759/cureus.35389 Text en Copyright © 2023, Kedia et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Kedia, Ansh
Singh, Gurpreet
Parmar, Subhangi
Varsha, Hima
Tango, Tamara
Agarwal, Pahel
Sahu, Sweta
Chauhan, Dharmesh R
A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title_full A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title_fullStr A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title_full_unstemmed A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title_short A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment
title_sort rare case of lower limb sarcoma with bcor-ccnb3 mutation: diagnosis and treatment
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039981/
https://www.ncbi.nlm.nih.gov/pubmed/36987488
http://dx.doi.org/10.7759/cureus.35389
work_keys_str_mv AT kediaansh ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT singhgurpreet ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT parmarsubhangi ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT varshahima ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT tangotamara ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT agarwalpahel ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT sahusweta ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT chauhandharmeshr ararecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT kediaansh rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT singhgurpreet rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT parmarsubhangi rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT varshahima rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT tangotamara rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT agarwalpahel rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT sahusweta rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment
AT chauhandharmeshr rarecaseoflowerlimbsarcomawithbcorccnb3mutationdiagnosisandtreatment