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Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case

Gastrointestinal stromal tumors (GIST) are mesenchymal spindle cell tumors of the gastrointestinal tract with the rarest occurrence in anal canal sites accounting for approximately only 2-8% of the anorectal GISTs. GISTs involve the expression of KIT (CD117) tyrosine kinase with the presence of muta...

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Autores principales: Patel, Akash, Shah, Akash, Patel, Ishan, Patel, Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244938/
https://www.ncbi.nlm.nih.gov/pubmed/37292549
http://dx.doi.org/10.7759/cureus.38690
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author Patel, Akash
Shah, Akash
Patel, Ishan
Patel, Sunil
author_facet Patel, Akash
Shah, Akash
Patel, Ishan
Patel, Sunil
author_sort Patel, Akash
collection PubMed
description Gastrointestinal stromal tumors (GIST) are mesenchymal spindle cell tumors of the gastrointestinal tract with the rarest occurrence in anal canal sites accounting for approximately only 2-8% of the anorectal GISTs. GISTs involve the expression of KIT (CD117) tyrosine kinase with the presence of mutations in KIT or platelet-derived growth factor alpha (PDGFRα) and are identified as an important target in therapy. The elderly population in the age of 70s appears to be at the highest risk with abdominal pain, GI bleeding, anemia, or weight loss as non-specific presenting symptoms. Here, we describe a case of a 56-year-old man who presented with vague dull pain in his left buttock diagnosed with GIST with a submucosal mass in the posterior wall of the anal canal and rectum and a tumor size of 45x42x37 mm. An immunohistological study of the biopsy sample reported positive for CD 117, CD 34, and DOG 1. The patient was prescribed neoadjuvant imatinib for 8 months with a good response and subsequently underwent transanal endoscopic microsurgical resection. Post-operatively, the patient was continued on adjuvant imatinib followed by regular restaging CT chest/abdomen/pelvis and surveillance flexible sigmoidoscopy every 6 months.
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spelling pubmed-102449382023-06-08 Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case Patel, Akash Shah, Akash Patel, Ishan Patel, Sunil Cureus Radiology Gastrointestinal stromal tumors (GIST) are mesenchymal spindle cell tumors of the gastrointestinal tract with the rarest occurrence in anal canal sites accounting for approximately only 2-8% of the anorectal GISTs. GISTs involve the expression of KIT (CD117) tyrosine kinase with the presence of mutations in KIT or platelet-derived growth factor alpha (PDGFRα) and are identified as an important target in therapy. The elderly population in the age of 70s appears to be at the highest risk with abdominal pain, GI bleeding, anemia, or weight loss as non-specific presenting symptoms. Here, we describe a case of a 56-year-old man who presented with vague dull pain in his left buttock diagnosed with GIST with a submucosal mass in the posterior wall of the anal canal and rectum and a tumor size of 45x42x37 mm. An immunohistological study of the biopsy sample reported positive for CD 117, CD 34, and DOG 1. The patient was prescribed neoadjuvant imatinib for 8 months with a good response and subsequently underwent transanal endoscopic microsurgical resection. Post-operatively, the patient was continued on adjuvant imatinib followed by regular restaging CT chest/abdomen/pelvis and surveillance flexible sigmoidoscopy every 6 months. Cureus 2023-05-07 /pmc/articles/PMC10244938/ /pubmed/37292549 http://dx.doi.org/10.7759/cureus.38690 Text en Copyright © 2023, Patel 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 Radiology
Patel, Akash
Shah, Akash
Patel, Ishan
Patel, Sunil
Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title_full Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title_fullStr Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title_full_unstemmed Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title_short Anorectal Gastrointestinal Stromal Tumor: Report of a Rare Case
title_sort anorectal gastrointestinal stromal tumor: report of a rare case
topic Radiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10244938/
https://www.ncbi.nlm.nih.gov/pubmed/37292549
http://dx.doi.org/10.7759/cureus.38690
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