Case Presentation:
The proband is a 67 year old female, with a past medical history of Rheumatoid Arthritis (RA), who presented with abdominal pain in August of 2002 at age 48. She was suspected to have diverticulitis with abscess formation. However, this was proven to be a left sided carcinoma of the colon with perforation and abscess formation. Lymphnode was not involved and she was treated with chemotherapy. She then underwent a colonoscopy in February 2003 that revealed a 2-3cm mass below the hepatic flexure in the ascending colon, characterized as moderately differentiated adenocarcinoma. She had a resection, underwent ileostomy, and received 5-FU and Leucovorin after the resection. Following the resection she had dehiscence and had to be reoperated. In November of 2004 she had a reanastomosis of her small bowel to transverse colon. She denied a total colectomy. In 2007, she then experienced abnormal vaginal bleeding that was evaluated and diagnosed as grade 3 endometrial cancer, papillary serous type. She was treated with a total abdominal hysterectomy and bilateral salpingo-oophorectomy, lymphadenectomy, omentectomy, peritoneal biopsy, adjuvant Taxol and Carboplatin, and brachytherapy to the vaginal vault.
Further investigation into her family history revealed an older sister who was diagnosed with uterine cancer at 53 years old; an older brother with kidney cancer in his 20’s; a mother with a diagnosis of uterine cancer at age 50, bladder cancer, and kidney cancer; a father with prostate cancer and possible colon cancer; maternal grandmother with breast and colon cancer; and paternal grandmother with colon cancer (Fig. 3). Her diagnosis and family history met the Amsterdam II criteria which qualified her for LS screening. In 2009, she underwent genetic testing, which showed germline MSH2 mutation R389X, resulting in premature truncation of the MSH2 protein at amino acid position 389, confirming her diagnosis of LS. In 2012, she had peritoneal cancer which was treated with 2 cycles of Taxol and Carboplatin. Recently, she was evaluated and found to have a recurrence of her colon cancer. She was surgically treated with a total proctocolectomy, small bowel resection, and placement of a colostomy. She is currently being treated for squamous cell and sebaceous skin carcinomas, which first appeared in 2008, with Cemiplimab (Fig. 4). Her dermatologist at the time took a biopsy of a lesion on the right side of her neck measuring .6x .4x .3cm and pathology reports showed a “well circumscribed nodule composed of basaltic cells with foci of sebaceous differentiation”, congruent with sebaceous carcinoma and therefore MTS. However, her most dominant skin cancer would be squamous cell carcinoma. Due to recurrent steroid treatments for RA, she remains immunosuppressed and requires IVIG infusions every 5 weeks with hematology/oncology. She continues to follow up with her GI doctors every 6 months and dermatologist every 3 months for continuous monitoring.