Cargando…
Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis
Multiple gastrointestinal stromal tumors (GISTs) combined with cutaneous multiple neurofibromas are clinically rare. This paper presents a case of multiple gastrointestinal stromal tumors in the jejunum of a 68-year-old mother, along with her daughter who also had coexisting cutaneous multiple neuro...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615565/ https://www.ncbi.nlm.nih.gov/pubmed/37909015 http://dx.doi.org/10.3389/fonc.2023.1206991 |
_version_ | 1785129249576845312 |
---|---|
author | Zhao, Congcan Jin, Liquan Tan, Yunbo Chen, Yiming Su, Ziting Li, Wenwu Yang, Qing |
author_facet | Zhao, Congcan Jin, Liquan Tan, Yunbo Chen, Yiming Su, Ziting Li, Wenwu Yang, Qing |
author_sort | Zhao, Congcan |
collection | PubMed |
description | Multiple gastrointestinal stromal tumors (GISTs) combined with cutaneous multiple neurofibromas are clinically rare. This paper presents a case of multiple gastrointestinal stromal tumors in the jejunum of a 68-year-old mother, along with her daughter who also had coexisting cutaneous multiple neurofibromas. The mother had been experiencing repeated melena for over 2 years and had previously been diagnosed with multiple small intestinal masses at other hospitals. Additionally, her 42-year-old daughter was admitted to our department due to recurrent abdominal pain caused by cholecystolithiasis. The mother and daughter both exhibited multiple nodular masses of varying sizes on their skin, including the truncus, limbs, and face, which were diagnosed as neurofibromas. The mother underwent a partial excision of the jejunum and a lateral jejunojejunal anastomosis side-to-side, as well as excision of skin lesions in our department. The final diagnosis of wild-type GISTs associated with neurofibromatosis type 1 (NF1) was confirmed through postoperative pathology, immunohistochemistry, and genetic testing results. During preoperative gastrointestinal endoscopy and intraoperative laparoscopic exploration of the gastrointestinal tract, no obvious tumors were found in her daughter. A combination of patient observations and a review of relevant literature in the field suggests that when patients present with gastrointestinal symptoms and multiple irregular painless swellings in the skin, it is important to consider the possibility of an association with NF1 and GIST. Additionally, obtaining a detailed family history can save time and improve the diagnosis of patients with both NF1 and GIST. We recommend that even if there are no gastrointestinal manifestations of GISTs in the offspring of newly mutated NF1 patients, regular review of gastroenteroscopy, imaging examination, and long-term follow-up after middle age are still crucial for the early diagnosis and treatment of NF1-related GISTs. |
format | Online Article Text |
id | pubmed-10615565 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-106155652023-10-31 Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis Zhao, Congcan Jin, Liquan Tan, Yunbo Chen, Yiming Su, Ziting Li, Wenwu Yang, Qing Front Oncol Oncology Multiple gastrointestinal stromal tumors (GISTs) combined with cutaneous multiple neurofibromas are clinically rare. This paper presents a case of multiple gastrointestinal stromal tumors in the jejunum of a 68-year-old mother, along with her daughter who also had coexisting cutaneous multiple neurofibromas. The mother had been experiencing repeated melena for over 2 years and had previously been diagnosed with multiple small intestinal masses at other hospitals. Additionally, her 42-year-old daughter was admitted to our department due to recurrent abdominal pain caused by cholecystolithiasis. The mother and daughter both exhibited multiple nodular masses of varying sizes on their skin, including the truncus, limbs, and face, which were diagnosed as neurofibromas. The mother underwent a partial excision of the jejunum and a lateral jejunojejunal anastomosis side-to-side, as well as excision of skin lesions in our department. The final diagnosis of wild-type GISTs associated with neurofibromatosis type 1 (NF1) was confirmed through postoperative pathology, immunohistochemistry, and genetic testing results. During preoperative gastrointestinal endoscopy and intraoperative laparoscopic exploration of the gastrointestinal tract, no obvious tumors were found in her daughter. A combination of patient observations and a review of relevant literature in the field suggests that when patients present with gastrointestinal symptoms and multiple irregular painless swellings in the skin, it is important to consider the possibility of an association with NF1 and GIST. Additionally, obtaining a detailed family history can save time and improve the diagnosis of patients with both NF1 and GIST. We recommend that even if there are no gastrointestinal manifestations of GISTs in the offspring of newly mutated NF1 patients, regular review of gastroenteroscopy, imaging examination, and long-term follow-up after middle age are still crucial for the early diagnosis and treatment of NF1-related GISTs. Frontiers Media S.A. 2023-10-16 /pmc/articles/PMC10615565/ /pubmed/37909015 http://dx.doi.org/10.3389/fonc.2023.1206991 Text en Copyright © 2023 Zhao, Jin, Tan, Chen, Su, Li and Yang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Zhao, Congcan Jin, Liquan Tan, Yunbo Chen, Yiming Su, Ziting Li, Wenwu Yang, Qing Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title | Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title_full | Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title_fullStr | Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title_full_unstemmed | Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title_short | Case Report: Multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
title_sort | case report: multiple gastrointestinal stromal tumors along with numerous cutaneous neurofibromas: a case description and literature analysis |
topic | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615565/ https://www.ncbi.nlm.nih.gov/pubmed/37909015 http://dx.doi.org/10.3389/fonc.2023.1206991 |
work_keys_str_mv | AT zhaocongcan casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT jinliquan casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT tanyunbo casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT chenyiming casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT suziting casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT liwenwu casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis AT yangqing casereportmultiplegastrointestinalstromaltumorsalongwithnumerouscutaneousneurofibromasacasedescriptionandliteratureanalysis |