After getting engaged, the last words 27-year-old Mrinali Dhembla expected to hear were, “You have cancer.”
“I was completely shaken when I first heard it,” Dhembla said. “When you’re in your 20s, you assume a minor bowel issue isn’t serious—you just think you can get through it.”
Early last year, Dhembla was diagnosed with aggressive stage 3 rectal cancer that had already spread to her spine, part of a worrying increase in colorectal cancer among adults under 50.
Mrinali Dhembla was stunned when she was diagnosed with rectal cancer last year.
While standard treatment usually involves surgery, radiation, and chemotherapy, Dhembla received a unique opportunity: she became one of the first patients to try a dual-immunotherapy regimen combining nivolumab and ipilimumab.
The Food and Drug Administration approved this combination last year for advanced cancers, including melanoma, mesothelioma, and colorectal cancer.
“We started this immunotherapy, and she’s had a remarkable response,” said Dr. Nicholas Hornstein, assistant professor of medical oncology at the Northwell Health Cancer Institute. “With the right patients, these new treatments can deliver significant benefits in a relatively short time—something that would have been unlikely just five years ago.”
A Shocking Diagnosis
Genetic testing revealed that Dhembla has Lynch syndrome, an inherited condition caused by mutations in genes responsible for repairing DNA errors.
“Think of these genes like a spellcheck system for your DNA,” Hornstein explained. “When cells divide, small errors naturally occur, and these mismatch repair proteins are supposed to catch and fix them. In people with Lynch syndrome, that system is broken, so DNA errors accumulate over time, which can lead to cancer.”
Shortly before her devastating diagnosis, Dhembla and her fiancé, Chris, had gotten engaged.
For those who know they have Lynch syndrome, experts recommend starting colonoscopy screenings between ages 20 and 25—or two to five years before the youngest age a family member was diagnosed, whichever comes first. People at average risk are advised to begin colorectal cancer screening at 45.
Dhembla, a digital media strategist, didn’t know she had Lynch syndrome and hadn’t undergone any surveillance before her diagnosis. She had dismissed early warning signs, including rectal bleeding, low-grade fevers, and chronic constipation.
Inside the Cutting-Edge Therapy
The silver lining is that Lynch syndrome makes tumors particularly vulnerable to immunotherapy.
Dhembla’s dual-immunotherapy regimen—which draws on research recognized with the 2018 Nobel Prize in Physiology or Medicine—is specifically designed for patients with “MSI-high” tumors.
“That means the tumor’s DNA repair machinery is broken, which is exactly what we see in Lynch syndrome,” explained Dr. Nicholas Hornstein. “Only about 15% of all colorectal cancers are MSI-high, though the proportion is higher in younger patients and in those with Lynch syndrome.”
