In a fresh medical achievement, MGM Cancer Institute has successfully carried out a rare bone marrow transplant that saved the life of a 12-year-old girl diagnosed with Bloom Syndrome – a rare genetic disorder known for causing bone marrow failure and increasing cancer risk.
The advanced procedure, called a TCR alpha beta depleted haploidentical bone marrow transplant, was performed using stem cells from the patient’s younger brother. According to the institute, this marks the first successful pediatric case of its kind reported anywhere in the world.
The patient, diagnosed at the age of 10, also had Monosomy 7 a chromosomal abnormality and Myelodysplastic Syndrome (MDS), a condition where the bone marrow produces defective blood cells. Left untreated, MDS often progresses to leukemia, making the transplant urgent and lifesaving.
Finding a compatible donor proved difficult. No fully matched family or unrelated donors were available, and genetic testing showed both parents carried the mutation for Bloom Syndrome. However, her younger brother was identified as a suitable donor as he did not carry the genetic mutation. Due to his smaller size and age, special adjustments were required to safely collect enough stem cells for the transplant. Additionally, since children with Bloom Syndrome are highly sensitive to chemotherapy, the standard pre-transplant treatment had to be carefully modified to avoid complications.
The complex transplant was led by Dr. M. Deenadayalan, Head and Clinical Lead of the Department of Pediatric Hematology, Oncology, and Bone Marrow Transplantation. A multidisciplinary team worked together to ensure the procedure’s success.
The young girl has since returned to her daily routine, including school, and continues to be monitored regularly. She has now crossed the one-year post-transplant milestone with full immune system recovery and 100% donor chimerism a key indicator of successful transplantation, showing that all her blood cells are now being produced by the donor’s healthy stem cells.
The case has been officially published in Pediatric Blood and Cancer, a respected international journal, highlighting the significance of this achievement on a global scale.
Dr. Deenadayalan commented:
This was an extremely rare and complicated case Bloom Syndrome combined with Monosomy 7 and MDS is hardly ever seen. We are proud to have saved this young girl’s life through a transplant procedure that, to our knowledge, has never before been successfully performed in a child with this condition. It reflects the expertise and commitment of our entire team.
