Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)
Abstract Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and...
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| Format: | Article |
| Language: | English |
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BMC
2019-12-01
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| Series: | BMC Cancer |
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| Online Access: | https://doi.org/10.1186/s12885-019-6375-9 |
| _version_ | 1818620308942225408 |
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| author | Liang Shang Zhen Fang Jin Liu Fengying Du Haiyan Jing Yali Xu Kangdi Dong Xiaoman Zhang Hao Wu Changqing Jing Leping Li |
| author_facet | Liang Shang Zhen Fang Jin Liu Fengying Du Haiyan Jing Yali Xu Kangdi Dong Xiaoman Zhang Hao Wu Changqing Jing Leping Li |
| author_sort | Liang Shang |
| collection | DOAJ |
| description | Abstract Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. Case presentation We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. Conclusion We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved. |
| first_indexed | 2024-12-16T17:51:19Z |
| format | Article |
| id | doaj.art-b873f39ef51c4adf87fc5664f4827d35 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-16T17:51:19Z |
| publishDate | 2019-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-b873f39ef51c4adf87fc5664f4827d352022-12-21T22:22:18ZengBMCBMC Cancer1471-24072019-12-011911610.1186/s12885-019-6375-9Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)Liang Shang0Zhen Fang1Jin Liu2Fengying Du3Haiyan Jing4Yali Xu5Kangdi Dong6Xiaoman Zhang7Hao Wu8Changqing Jing9Leping Li10Department of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Pathology, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Pathology, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of ENT, Shandong Provincial ENT Hospital, Shandong Provincial ENT Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityDepartment of Gastroenterological Surgery, Shandong Provincial Hospital Affiliated to Shandong UniversityAbstract Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. Case presentation We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. Conclusion We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved.https://doi.org/10.1186/s12885-019-6375-9NF1GISTColon cancer |
| spellingShingle | Liang Shang Zhen Fang Jin Liu Fengying Du Haiyan Jing Yali Xu Kangdi Dong Xiaoman Zhang Hao Wu Changqing Jing Leping Li Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) BMC Cancer NF1 GIST Colon cancer |
| title | Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) |
| title_full | Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) |
| title_fullStr | Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) |
| title_full_unstemmed | Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) |
| title_short | Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1) |
| title_sort | case report of ascending colon cancer and multiple jejunal gists in a patient with neurofibromatosis type 1 nf1 |
| topic | NF1 GIST Colon cancer |
| url | https://doi.org/10.1186/s12885-019-6375-9 |
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