Summary: A new study by Florida Cancer Specialists & Research Institute highlights the critical role of genomic testing in diagnosing Lynch syndrome and guiding personalized treatment for inherited cancers.

Takeaways:

  1. Lynch Syndrome Risks: Lynch syndrome increases the risk of colorectal, endometrial, and other cancers, affecting up to 1 in 300 people in the U.S. with a 70–80% elevated cancer risk.
  2. Genomic Profiling in Action: Comprehensive genomic testing enabled targeted immunotherapy for a 34-year-old patient with dual cancers, improving outcomes through personalized treatment.
  3. Impact on Cancer Care: FCS’s next-generation testing capabilities accelerate cancer diagnosis, offer clinical trial opportunities, and tailor therapies to individual genetic profiles.

A new study highlights the vital role of genomic testing in diagnosing and treatment of inherited types of cancer, parcticularly those associated with Lynch syndrome (LS)

Florida Cancer Specialists & Research Institute, LLC (FCS) hematologist and medical oncologist Mahdi Taha, DO, FACOI, FACP is lead author of a case report abstract published in Annals of Case Reports that illustrates the complexities in diagnosing inherited cancers associated with LS and the pivotal role of comprehensive genomic testing to inform diagnosis and guide treatment tailored to the unique genetic makeup of each patient.

Diagnosing Lynch Syndrome

Lynch syndrome is associated with an increased risk of inherited colorectal, endometrial, and other cancers. In the U.S., LS is estimated to affect as many as 1 in 300 people, resulting in a 70 to 80 percent increased risk of developing certain cancers.

In the abstract, titled Clinical Utility of Comprehensive Genomic Profiling in a Rare Case of Metachronous Endometrial and Colorectal Primary Cancers, the authors note: “Early detection and precise treatment strategies, informed by genomic insights, are essential for improving outcomes in patients with Lynch Syndrome, especially in those with atypical presentations or limited family history.”

“This milestone reflects the collaborative efforts and dedication to advancing cancer care that FCS has continuously supported,” Taha says. “Our extensive next-generation testing capabilities and clinical research focus continue to positively impact patient outcomes.”


Further Reading


Cancer Patient Case Study

The abstract details the case of a 34-year-old female with stage IVb metastatic endometrial cancer complicated by colon cancer who is currently being treated with targeted immunotherapy with positive results.

FCS offers an extensive menu of genomic testing at its clinics statewide to detect oncogenic mutations in hundreds of different genes simultaneously, enabling clinicians to make faster diagnoses of a wide range of cancers while providing recommendations for clinical trials options and personalized therapies based on each patient’s results.

“This case report represents a significant step forward in our understanding of the importance of genomic testing in treating cancer, highlighting the power of collaboration and innovation in advancing patient care,” says FCS Assistant Managing Physician David Wenk, MD. “We are proud to see FCS and its physicians leading this important work and contributing to the body of evidence that guides our practice and improves outcomes for patients worldwide.”The study will be available in the printed Annals of Case Reports Volume 09, Issue 06 publication.