Chennai: MGM Cancer Institute has performed a rare and complex bone marrow transplant that saved the life of a 12-year-old girl diagnosed with Bloom Syndrome, a genetic disorder associated with bone marrow failure and increased cancer risk.
The procedure, known as a TCR alpha beta depleted haploidentical bone marrow transplant (BMT), was carried out using stem cells donated by the patient’s younger brother. According to the institute, this is the first documented successful pediatric transplant of its kind worldwide.
It is indicated that the patient, diagnosed at age 10, also had Monosomy 7, a chromosomal abnormality, and Myelodysplastic Syndrome (MDS), a condition in which the bone marrow fails to produce healthy blood cells.
Without treatment, MDS carried a high risk of progression to leukemia, making the transplant both urgent and essential.
The hospital further states that finding a suitable donor proved challenging. No fully matched family or unrelated donors were available, and both parents were identified as carriers of the mutation. After genetic evaluation, her younger brother was identified as a suitable donor, as he did not carry the mutation. His younger age and lower body weight, however, required modifications to the stem cell collection process to ensure a safe but sufficient harvest. In addition, the transplant conditioning protocol had to be adapted, as children with Bloom Syndrome are highly sensitive to chemotherapy and cannot tolerate standard regimens.
The multidisciplinary team, led by Dr. M. Deenadayalan, Head and Clinical Lead, Department of Paediatric Haematology, Oncology, Blood and Marrow Transplantation, successfully performed the transplant.
It is stated that the patient has since returned to school and is able to participate in daily activities. She will remain under medical follow-up to monitor her long-term health.
The case has been published in Pediatric Blood and Cancer, a peer-reviewed journal in pediatric hematology and oncology, underscoring its clinical significance at a global level.
Commenting on the development, Dr. M. Deenadayalan, said, “Bloom Syndrome is a rare genetic disorder, and in this case, it was further complicated by Monosomy 7 and Myelodysplastic Syndrome, a combination so uncommon that only a handful of such cases have been reported in the world.
We are happy that we could save the life of a young girl facing this exceptionally rare and complex condition. She has now crossed one-year post-transplant with full immunological recovery and 100% donor chimerism, meaning all her blood cells are being produced by the donor’s healthy stem cells.
This is a key marker of transplant success. To our knowledge, this is world’s only documented successful TCR alpha beta depleted haploidentical bone marrow transplant in a child with Bloom Syndrome. We are proud of our team’s expertise in carrying out one of the most challenging bone marrow.”
