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Doctor Review X-Ray with Patient

Diagnosing Cancer Case Study: A Closer Look at Family History

From Kurt P. Leuenberger, MD, OHC Hematology Oncology, Blogs, Diseases, For Physicians, 0 comments
April 16, 2014


Patient Presentation:
A 19-year-old healthy male presented to his primary care physician with the primary complaint of constipation lasting four weeks

Review of systems negative

Key Assessment/Findings:
Family history revealed father deceased at age 46 from colon cancer

Next Steps:
Colonoscopy ordered
CT scans of abdomen and pelvis
Diagnostic lab including a CBC, CEA, CMP

Colonoscopy revealed early stage colon cancer

Chemotherapy nor radiation indicated as cancer was detected early

Medical oncologist referred patient and family for genetic counseling at Cincinnati Children’s due to family history of early onset colon cancer

Lynch Syndrome

Oncology plan of care has been developed to monitor his health for recurrence or for other cancers, while his genetic counselors continue to counsel him and his immediate family

Key Learnings:
Family history critical in identifying potential health issues in seemingly common complaints
With two instances of colon cancer in this patient’s family, the genetic counselor suggested additional testing. According to the American Cancer Society, when a family history includes two or more relatives with colon cancer, the possibility of a genetic syndrome is increased substantially
Since his cancer was caught at a very early stage and removed surgically, my patient did not require any post-operative chemotherapy or radiation therapy
Patient will be monitored for recurrence and other cancers he may be predisposed to
Siblings will be counseled by the genetic team, monitored by their primary care physician and other specialists as needed
Collaborative team approach with primary care, genetic counseling and oncology has created greater outcomes for this family

Lynch Syndrome:
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common of the inherited colon cancer susceptibility syndromes. An autosomal dominant disorder, it accounts for 2-3 percent of all colon cancer cases and similarly is responsible for about 2 percent of endometrial cancers
Patients have a markedly increased risk of colorectal and endometrial cancer, and several other cancers including ovarian, upper urologic tract, gastric, small bowel, biliary/pancreatic, skin and brain cancers
Cancer risk in Lynch syndrome varies depending on geographic/environmental factors (e.g. gastric cancer is a more common Lynch-associated cancer in countries such as China and Korea with a high sporadic prevalence of that disease)
As in most familial cancer syndromes, early age of onset and multiplicity of cancers have been considered hallmarks of Lynch syndrome
The mean age at initial colorectal cancer diagnosis is about 45 years, compared to around age 65 for sporadic colorectal cancer, some Lynch syndrome patients present with colorectal cancer in their twenties
Similarly, the mean age of uterine cancer in Lynch syndrome is about 50 years, which is about 10 years younger than the average age of sporadic uterine cancer
Note: There are patients who have clinical features who raise suspicion for Lynch syndrome (e.g. young age at presentation, poorly differentiated tumors in the right colon, tumors that contain mucin) whose family history may be incomplete but who nevertheless may be at increased risk To learn more about Lynch Syndrome, visit UpToDate.

Editor’s Notes: OHC physicians work with genetic counselors at Cincinnati Children’s and St. Elizabeth Healthcare. Please click on their links to learn more about their services and locations. Dr. Leuenberger is an OHC medical oncologist practicing in our Lawrenceberg and West locations. Dr. Leuenberger’s interests include urological and gastrointestinal cancers.


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