CONGRESS 2023 - Stented adenocarcinoma in a young female
Emergency presentation of adenocarcinoma in a young female. This case study was carried out as part of the Advanced Specialist Diploma in Histological Dissection of Lower GI Pathology. The patient was a 34-year-old female who presented at A&E with sudden onset of abdominal pain and constipation. A CT scan showed multiple colonic polyps and a likely descending colon tumour. The differential diagnosis of the tumour was of an inflammatory process, in view of her young age and negative family history of colorectal cancer. Endoscopic biopsies confirmed the diagnosis of a well to moderately differentiated mucinous adenocarcinoma. A stent was placed to relieve obstructive symptoms and a genetic questionnaire was completed. The patient subsequently underwent a subtotal colectomy in view of the large number of polyps. Histology of the resection specimen showed a circumferential mucinous adenocarcinoma multiple lymph node metastases and lymphovascular invasion, TNM 8 pT3 N2b R0 V0 L1 Pn0. Routine Mismatch Repair (MMR) immunohistochemistry detected a loss of MSH2 and MSH6, indicating possible Lynch syndrome. Further molecular testing including Microsatellite Instability (MSI) showed that Lynch syndrome was not present, and no genetic explanation could be found as to why the patient developed bowel cancer at a young age. Detection of a KRAS mutation in the tumour cells suggests that treatment with anti-EGFR therapies such as Cetuximab may not be effective in this patient. After discussion of the histology at MDT, the patient was referred to oncology for adjuvant chemotherapy which consisted of 6 months Oxaliplatin and 5-Fluorouracil. The patient completed the course in 2019 and was referred to the surgical team for follow up with CT scans, endoscopy and CEA monitoring. In summary, this case demonstrates the essential role of appropriate sampling and molecular testing of colonic cancer resection specimens in guiding decisions about the patient’s subsequent treatment.
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Emergency presentation of adenocarcinoma in a young female.
This case study was carried out as part of the Advanced Specialist Diploma in Histological Dissection of Lower GI Pathology. The patient was a 34-year-old female who presented at A&E with sudden onset of abdominal pain and constipation. A CT scan showed multiple colonic polyps and a likely descending colon tumour. The differential diagnosis of the tumour was of an inflammatory process, in view of her young age and negative family history of colorectal cancer. Endoscopic biopsies confirmed the diagnosis of a well to moderately differentiated mucinous adenocarcinoma. A stent was placed to relieve obstructive symptoms and a genetic questionnaire was completed. The patient subsequently underwent a subtotal colectomy in view of the large number of polyps. Histology of the resection specimen showed a circumferential mucinous adenocarcinoma multiple lymph node metastases and lymphovascular invasion, TNM 8 pT3 N2b R0 V0 L1 Pn0.
Routine Mismatch Repair (MMR) immunohistochemistry detected a loss of MSH2 and MSH6, indicating possible Lynch syndrome. Further molecular testing including Microsatellite Instability (MSI) showed that Lynch syndrome was not present, and no genetic explanation could be found as to why the patient developed bowel cancer at a young age. Detection of a KRAS mutation in the tumour cells suggests that treatment with anti-EGFR therapies such as Cetuximab may not be effective in this patient. After discussion of the histology at MDT, the patient was referred to oncology for adjuvant chemotherapy which consisted of 6 months Oxaliplatin and 5-Fluorouracil. The patient completed the course in 2019 and was referred to the surgical team for follow up with CT scans, endoscopy and CEA monitoring.
In summary, this case demonstrates the essential role of appropriate sampling and molecular testing of colonic cancer resection specimens in guiding decisions about the patient’s subsequent treatment.