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Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor
Desmoid fibromatosis (DF) involving the gastrointestinal tract is extremely rare. Its intramural location and occasional expansile growth pattern within the bowel wall may mimic a gastrointestinal stromal tumor (GIST). Due to the different disease behaviors and management, it is important to make a...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673680/ https://www.ncbi.nlm.nih.gov/pubmed/34926078 http://dx.doi.org/10.7759/cureus.19614 |
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author | Lee, Jim C Curtis, David Williamson, Jonathan B Ligato, Saverio |
author_facet | Lee, Jim C Curtis, David Williamson, Jonathan B Ligato, Saverio |
author_sort | Lee, Jim C |
collection | PubMed |
description | Desmoid fibromatosis (DF) involving the gastrointestinal tract is extremely rare. Its intramural location and occasional expansile growth pattern within the bowel wall may mimic a gastrointestinal stromal tumor (GIST). Due to the different disease behaviors and management, it is important to make a correct diagnosis before further treatment. We present an extremely rare case of a gastric DF that on imaging appeared as a discrete intramural mass mimicking a GIST and that was preoperatively correctly diagnosed as a DF based on its cytomorphologic, immunohistochemical, and molecular profiles. The patient is a 71-year-old female who presented with dysphagia and unintentional weight loss. A mass was identified at the gastric fundus. Endoscopic ultrasound-guided fine-needle aspirate (FNA) and biopsy (FNB) were performed. The FNA showed a few small aggregates of cytologically bland spindle-shaped cells with elongated nuclei. The FNB yielded small fragments of tissue composed of bland spindle cells demonstrating nuclear and cytoplasmic immunostain for β-catenin and focal stain for smooth muscle actin (SMA) and desmin. CD117, DOG1, CD34, caldesmon, S100, cytokeratin AE1/AE3, signal transducer and activator of transcription 6 (STAT6), MUC4, progesterone receptor (PR), and anaplastic lymphoma kinase (ALK) were negative, and MIB-1 showed a very low proliferation activity index. Molecular studies performed by targeted next-generation sequencing showed activating mutations in CTNNB1. These results excluded a GIST and confirmed the diagnosis of a gastric DF. Although it is very rare, DF must be included in the differential diagnosis of discrete intramural gastric spindle cell lesions. A definitive diagnosis can be made preoperatively if enough lesional material is available for appropriate immunohistochemical and molecular studies. |
format | Online Article Text |
id | pubmed-8673680 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-86736802021-12-16 Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor Lee, Jim C Curtis, David Williamson, Jonathan B Ligato, Saverio Cureus Pathology Desmoid fibromatosis (DF) involving the gastrointestinal tract is extremely rare. Its intramural location and occasional expansile growth pattern within the bowel wall may mimic a gastrointestinal stromal tumor (GIST). Due to the different disease behaviors and management, it is important to make a correct diagnosis before further treatment. We present an extremely rare case of a gastric DF that on imaging appeared as a discrete intramural mass mimicking a GIST and that was preoperatively correctly diagnosed as a DF based on its cytomorphologic, immunohistochemical, and molecular profiles. The patient is a 71-year-old female who presented with dysphagia and unintentional weight loss. A mass was identified at the gastric fundus. Endoscopic ultrasound-guided fine-needle aspirate (FNA) and biopsy (FNB) were performed. The FNA showed a few small aggregates of cytologically bland spindle-shaped cells with elongated nuclei. The FNB yielded small fragments of tissue composed of bland spindle cells demonstrating nuclear and cytoplasmic immunostain for β-catenin and focal stain for smooth muscle actin (SMA) and desmin. CD117, DOG1, CD34, caldesmon, S100, cytokeratin AE1/AE3, signal transducer and activator of transcription 6 (STAT6), MUC4, progesterone receptor (PR), and anaplastic lymphoma kinase (ALK) were negative, and MIB-1 showed a very low proliferation activity index. Molecular studies performed by targeted next-generation sequencing showed activating mutations in CTNNB1. These results excluded a GIST and confirmed the diagnosis of a gastric DF. Although it is very rare, DF must be included in the differential diagnosis of discrete intramural gastric spindle cell lesions. A definitive diagnosis can be made preoperatively if enough lesional material is available for appropriate immunohistochemical and molecular studies. Cureus 2021-11-15 /pmc/articles/PMC8673680/ /pubmed/34926078 http://dx.doi.org/10.7759/cureus.19614 Text en Copyright © 2021, Lee 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 | Pathology Lee, Jim C Curtis, David Williamson, Jonathan B Ligato, Saverio Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title | Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title_full | Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title_fullStr | Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title_full_unstemmed | Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title_short | Gastric Desmoid Fibromatosis – Report of a Rare Mimic of Gastrointestinal Stromal Tumor |
title_sort | gastric desmoid fibromatosis – report of a rare mimic of gastrointestinal stromal tumor |
topic | Pathology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673680/ https://www.ncbi.nlm.nih.gov/pubmed/34926078 http://dx.doi.org/10.7759/cureus.19614 |
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