A conditioning regimen of busulfan, fludarabine, and melphalan for allogeneic stem cell transplantation in children with juvenile myelomonocytic leukemia.

A pilot study was undertaken using a myeloablative conditioning with fludarabine, busulfan, and melphalan to improve the outcome of HSCT in 10 children, aged six months to six yr, with JMML. All patients were conditioned with oral busulfan (560 mg/m(2)), fludarabine (120 mg/m(2)), and melphalan (180-210 mg/m(2)) prior to HSCT, and received stem cells from bone marrow in seven cases, and from cord blood in three cases. Engraftment was documented in eight patients, whereas graft failure occurred in two, one of whom had received HLA-mismatched cord blood and other had received bone marrow from HLA-mismatched mother. Three patients, including two in who graft failure had occurred, relapsed. Five patients developed acute GVHD and two developed chronic GVHD. Seven patients are alive and in remission 27-69 months after transplantation. Thus, our study showed that HSCT following conditioning with fludarabine, busulfan, and melphalan was well tolerated and appeared to be effective for JMML.

Results for 79 patients with neuroblastoma detected through mass screening at 6 months of age in a single institute.

BACKGROUND: In Japan, mass screening for neuroblastoma has been performed at 6 months of age to improve the prognosis of this condition for more than 20 years. In recent years, most neuroblastomas detected by mass screening were considered to have favorable biological features and sometimes tend to regress spontaneously. METHODS: The authors established non-treated observation criteria in 1997 and criteria for observation of residual tumor after first-line chemotherapy in 1999, and have made an effort to reduce the intensity of medical treatment for neuroblastoma. The authors examined outcomes of 79 patients who were found in the Shizuoka neuroblastoma mass screening at 6 months of age and who received medical treatment or underwent observation in Shizuoka Children's Hospital, Shizuoka, Japan, between December 1981 and December 2004. RESULTS: A total of 77 patients survived but the remaining two patients died from complications of medical treatment. None of the patients died due to progression of neuroblastoma. In the cases, non-treated observation was performed in 17. Of those, 12 patients are now under non-treated observation. Of their tumors, two have disappeared, nine have become smaller and another one has not change in size. Observation of residual tumor after first-line chemotherapy was performed in 15 cases, and three disappeared and the other 12 cases became smaller. Medical treatment-related complications were observed in 20 of 67 patients who received medical treatment, and 18 of the 20 patients were seen before establishing non-treated observation criteria. CONCLUSION: Non-treated observation and observation of residual tumor after first-line chemotherapy were useful to reduce medical treatment-related complications.

Spontaneous regression of metastases including meningeal metastasis after gross resection of primary tumor in an infant with stage 4 neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor in childhood. Spontaneous regression has been well described in infants, especially in those with stage 4S and those with low-stage neuroblastoma detected by screening. However, neuroblastoma presenting with intracranial metastasis is generally considered to need a postoperative chemotherapy. Here, we report a 3-month-old girl with stage 4 neuroblastoma presenting with spontaneous regression of metastatic tumor including meningeal metastasis after gross resection of primary tumor. Further investigation may be required to detect patients of this kind without the need of postoperative chemotherapy regardless of their stage at diagnosis.

Desmoplastic small cell tumor of soft tissue: molecular variant of EWS-WT1 chimeric fusion.

A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.