Case Report on Lynch Syndrome During Pregnancy

Lynch Syndrome Diagnosed During Pregnancy Presenting as Acute Ileocolic Intussusception in the Third Trimester

Case Report Published in The American Journal of Surgery

Jesse P. Wright, MD

Gastrointestinal Oncology Program

AdventHealth Cancer Institute

Jesse P Wright¹, John R T Monson ¹ , Matthew R Albert¹

¹ Department of Colon and Rectal Surgery, AdventHealth Orlando, Orlando, FL, USA.

A healthy 31-year-old woman, 35 weeks gravid (G6P3023) presented to the emergency department with 4 days of intermittent abdominal pain, nausea, and new onset blood per rectum. After a normal gallbladder ultrasound, an MRI was obtained demonstrating a large heterogenous abnormality within the right colon interpreted as a complex small bowel intussusception with associated small bowel thickening, edema and punctuate foci of abnormal signal intensity concerning for possible pneumatosis intestinalis. A contrasted computed tomography scan was obtained to better define the diagnosis which confirmed an ileocolonic intussusception with the ileum, ileocecal valve, and cecum, as the intussusceptum extending to the level of the hepatic flexure.

In concert with the obstetrician and the patient, we proceeded with an urgent cesarean section through a lower midline incision. The obstetrician delivered the baby without delay or complication, and the uterus was closed. The colorectal surgeon repositioned the retractor and found a clearly evident intussuscepted terminal ileum and a palpable mass within the cecum. A formal, oncologic ileal right colectomy was performed with attention to high ligation of the ileocolic and right branch of the middle colic lymphovascular pedicles followed by primary anastomosis.

Final pathology of the resected specimen found a 13-cm cecal lesion, consistent with moderately differentiated adenocarcinoma arising from a tubulovillous adenoma with focal transmural invasion into the pericolonic soft tissue, with negative margins and 0/28 regional lymph nodes involved (pT3N0, AJCC stage II). DNA mismatch repair immunohistochemistry found a loss of expression of MLH1 and PMS2 in tumor cells, and BBRAF mutation was absent (wild type), confirming Lynch syndrome as an underlying etiology.

Hereditary nonpolyposis colon cancer (HPNCC) (Lynch syndrome) is the most common genetically inheritable syndrome associated with colorectal cancer with a propensity for right-sided colonic cancers. Intussusception is the invagination or “telescoping” of one segment of the bowel into a directly adjacent segment of the bowel. It can be a surgical emergency and must be promptly diagnosed and managed.

For more information or to refer a patient, call Gastrointestinal Oncology Nurse Navigators Erica Corcoran, MSN, RN, OCN, AOCNS, ONN-CG , at Call407-303-5981 or Wyntir Purtha, BSN, RN, OCN, at Call407-303-5959.

Link to published article: https://journals.sagepub.com/doi/abs/10.1177/0003134820952358