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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Congcan, Jin, Liquan, Tan, Yunbo, Chen, Yiming, Su, Ziting, Li, Wenwu, Yang, Qing
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