WHEN A RARE DISEASE POSES A CHALLENGE, NMRRC SURGEONS RISE TO MEET IT

19-year-old Viktoria from the Moscow region was diagnosed with a condition so rare that it is barely mentioned in medical textbooks. Desmoplastic small round cell tumor is a rare and aggressive form of sarcoma, most commonly found in children and adolescents. In Russia, only a handful of cases have been recorded.

The exact organ from which the tumor cells originate remains unknown. However, researchers have identified a characteristic genetic mutation in the tumor cells—a translocation of one chromosome segment to another—resulting in the formation of an abnormal chimeric protein produced by the activity of two different genes.

In Viktoria’s case, the tumor was located in the abdominal cavity, spreading to the omentum and the mesentery of the intestine.

“There are no specialized departments for treating this tumor—it is too rare and complex. But at NMRRC, we never turn patients away, even when faced with such a challenge,” says thoracoabdominal surgeon-oncologist Sergey Aksenov of the P. Hertsen Moscow Oncology Research Institute.

What was done? After seven cycles of intensive chemotherapy, which included five toxic drugs, the tumor shrank by nearly half. This allowed the surgical team to proceed with an operation. However, simply removing the tumor was not enough—the risk of recurrence was too high.

“We decided to use the most effective international protocol, combining systemic chemotherapy, surgery, and intraperitoneal hyperthermic chemotherapy (HIPEC). This technique is not typically used for soft tissue sarcomas, but it has shown excellent results for this rare tumor,” explains Vladimir Khomyakov, Head of the Thoracoabdominal Department at the P. Hertsen Moscow Oncology Research Institute.

Following tumor removal, a chemotherapy solution heated to 42–43°C was introduced into the abdominal cavity. “This solution circulates in a closed system for an hour, ‘washing’ the peritoneum and destroying any remaining malignant cells. This method reduces the likelihood of recurrence and improves treatment outcomes,” explains Nikolay Grishin, lead research scientist of the Abdominal Department and the specialist performing the procedure.

The four-hour surgery was successfully completed, with the full planned scope of treatment achieved. Viktoria now faces recovery, continued chemotherapy, and ongoing monitoring. “We have done everything possible—and we will keep fighting!” concludes Sergey Aksenov.