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The Role of CDH1 Mutation in Colon Cancer Screening
Background
Genetic testing can reveal inherited or acquired genetic changes that can help with identifying diagnosis, treatment, prognosis, and risk of the malignancy. CDH1 is a gene that prevents cancer by controlling cell growth. Mutated CDH1 gene can lead to specific malignancies including gastric and breast cancer.
Case Presentation
42 year old female with past medical history of ovarian cysts presented to the VA Emergency Department for right sided abdominal pain and red colored stool. Further workup showed ileocolonic intussusception with stranding. She underwent a colonoscopy which showed 4 centimeter mass at the ileocecal valve. Biopsy was done which showed invasive adenocarcinoma. She underwent laparoscopic hemicolectomy and was referred to oncology. Referral to genetic testing was positive for CDH1 gene mutation. She was advised that CDH1 mutation has a high risk of developing gastric and breast cancer with recommendations including possible total gastrectomy and bilateral mastectomies. The patient however, decided to decline gastrectomy and mastectomy and instead decided to be followed by frequent EGDs and mammograms.
Discussion
CDH1 mutations are found in only 3.8% of colorectal signet ring cell cancers, with limited data of their presence in typical adenocarcinomas. This case underscores the value of genetic testing in all colorectal adenocarcinomas for its prognostic significance and potential impact on other cancer screenings. CDH1 mutations can lead to an aggressive type of gastric cancer called hereditary diffuse gastric cancer in 56-70% of patients with the mutation. CDH1 mutations also have a 37-55% of having breast cancer compared to the 12% in the general population and patients tend to present with lobular breast cancer. Patients with positive CDH1 mutation should have regular screenings or in some cases, prophylactic surgery.
CDH1 mutation is an important tool in genetic testing because it allows physicians to tailor a treatment plan for their patients. It is important that patients who have a positive CDH1 mutation be advised of the risks of both gastric and breast cancer and should also be educated on treatment options including frequent screenings and prophylactic surgery.
Background
Genetic testing can reveal inherited or acquired genetic changes that can help with identifying diagnosis, treatment, prognosis, and risk of the malignancy. CDH1 is a gene that prevents cancer by controlling cell growth. Mutated CDH1 gene can lead to specific malignancies including gastric and breast cancer.
Case Presentation
42 year old female with past medical history of ovarian cysts presented to the VA Emergency Department for right sided abdominal pain and red colored stool. Further workup showed ileocolonic intussusception with stranding. She underwent a colonoscopy which showed 4 centimeter mass at the ileocecal valve. Biopsy was done which showed invasive adenocarcinoma. She underwent laparoscopic hemicolectomy and was referred to oncology. Referral to genetic testing was positive for CDH1 gene mutation. She was advised that CDH1 mutation has a high risk of developing gastric and breast cancer with recommendations including possible total gastrectomy and bilateral mastectomies. The patient however, decided to decline gastrectomy and mastectomy and instead decided to be followed by frequent EGDs and mammograms.
Discussion
CDH1 mutations are found in only 3.8% of colorectal signet ring cell cancers, with limited data of their presence in typical adenocarcinomas. This case underscores the value of genetic testing in all colorectal adenocarcinomas for its prognostic significance and potential impact on other cancer screenings. CDH1 mutations can lead to an aggressive type of gastric cancer called hereditary diffuse gastric cancer in 56-70% of patients with the mutation. CDH1 mutations also have a 37-55% of having breast cancer compared to the 12% in the general population and patients tend to present with lobular breast cancer. Patients with positive CDH1 mutation should have regular screenings or in some cases, prophylactic surgery.
CDH1 mutation is an important tool in genetic testing because it allows physicians to tailor a treatment plan for their patients. It is important that patients who have a positive CDH1 mutation be advised of the risks of both gastric and breast cancer and should also be educated on treatment options including frequent screenings and prophylactic surgery.
Background
Genetic testing can reveal inherited or acquired genetic changes that can help with identifying diagnosis, treatment, prognosis, and risk of the malignancy. CDH1 is a gene that prevents cancer by controlling cell growth. Mutated CDH1 gene can lead to specific malignancies including gastric and breast cancer.
Case Presentation
42 year old female with past medical history of ovarian cysts presented to the VA Emergency Department for right sided abdominal pain and red colored stool. Further workup showed ileocolonic intussusception with stranding. She underwent a colonoscopy which showed 4 centimeter mass at the ileocecal valve. Biopsy was done which showed invasive adenocarcinoma. She underwent laparoscopic hemicolectomy and was referred to oncology. Referral to genetic testing was positive for CDH1 gene mutation. She was advised that CDH1 mutation has a high risk of developing gastric and breast cancer with recommendations including possible total gastrectomy and bilateral mastectomies. The patient however, decided to decline gastrectomy and mastectomy and instead decided to be followed by frequent EGDs and mammograms.
Discussion
CDH1 mutations are found in only 3.8% of colorectal signet ring cell cancers, with limited data of their presence in typical adenocarcinomas. This case underscores the value of genetic testing in all colorectal adenocarcinomas for its prognostic significance and potential impact on other cancer screenings. CDH1 mutations can lead to an aggressive type of gastric cancer called hereditary diffuse gastric cancer in 56-70% of patients with the mutation. CDH1 mutations also have a 37-55% of having breast cancer compared to the 12% in the general population and patients tend to present with lobular breast cancer. Patients with positive CDH1 mutation should have regular screenings or in some cases, prophylactic surgery.
CDH1 mutation is an important tool in genetic testing because it allows physicians to tailor a treatment plan for their patients. It is important that patients who have a positive CDH1 mutation be advised of the risks of both gastric and breast cancer and should also be educated on treatment options including frequent screenings and prophylactic surgery.