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.