Granulocytic sarcoma presenting with severe adenopathy (cervical lymph nodes, tonsils, and adenoids) in a child with juvenile myelomonocytic leukemia and successful treatment with allogeneic bone marrow transplantation.

The occurrence of adenopathy in patients with myelodysplastic syndrome-associated extramedullary myeloid cell tumors has rarely been reported. We describe a 7-year-old girl with juvenile myelomonocytic leukemia who showed the novel chromosomal abnormality t(9;12)(p22;q24.1) and who developed severe adenopathy of the cervical lymph nodes, tonsils, and adenoids that was manifested as granulocytic sarcoma. Following chemotherapy, the patient underwent a conditioning regimen of busulfan, cyclophosphamide, and total body irradiation followed by successful allogeneic bone marrow transplantation from her single HLA locus-mismatched mother at 6 months after her diagnosis. The patient continues to be well and in remission 3 years after stem cell transplantation.

A preparatory regimen of total body irradiation, busulphan and melphalan for allogeneic bone marrow transplantation in childhood high-risk leukemia and lymphoma.

The therapeutic results of allogeneic bone marrow transplantation (BMT), following a conditioning regimen of total body irradiation and busulphan and melphalan administration, were evaluated in 20 pediatric patients with high-risk leukemia or lymphoma. Twelve patients received BMT from HLA-matched related (MR) donors while eight received transplants from mismatched related or unrelated (MisR/UR) donors. The post-BMT five-year survival rates were much better for patients in the MR donor group (p = 0.0008). The outcomes of patients in the MisR/UR donor group were significantly worse. This was not due to disease recurrence, but to a high incidence of fatal post-transplant infections (p = 0.004). Nine out of twelve patients who received transplants from MR donors have remained in complete remission for a median of 57 (range 27-78) months. These results suggest that this conditioning regimen has a significant anti-neoplastic benefit useful for the preparation of pediatric patients receiving transplants from MR donors; however, refinement is essential before it can be used in patients receiving transplants from MisR/UR donors.

Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis.

Severe sensorineural hearing loss (bilateral >80 dB) was diagnosed in a case of familial hemophagocytic lymphohistiocytosis (FHL). The female patient developed HLH at 3 months of age and underwent allogeneic cord blood transplantation at 11 months of age following 7 months of immuno-chemotherapy. The type 2 FHL patient had a homozygous perforin gene mutation of 1090-1091delCT, and was noted to have hearing loss at 3.5 years of age. Retrospective evaluation did not clarify the exact causes of hearing loss. Reports on Kawasaki disease, suggesting a correlation between severe inflammatory status in infancy and the development of sensorineural hearing loss, may shed some light on this rare complication in this case of FHL. Considering the markedly improved prognosis of FHL due to recent advances made in the molecular diagnosis and in the management including allogeneic hematopoietic stem cell transplantation, auditor by screening might be warranted for surviving FHL patients.