Summary:A 5-year-old boy received CD34-positive HLA haploidentical bone marrow transplantation from his father as treatment for refractory advanced neuroblastoma. He had residual disease in the para-aortic lymph nodes and multiple bones after the transplant. However, all of his residual disease had disappeared completely 3 years later. He developed grade I acute graft-versus-host disease (GVHD) but had no symptoms of chronic GVHD or any other complications. This case demonstrates the possibility of a graft-versus-tumor effect against neuroblastoma by HLA-mismatched allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplantation (2003) 32, 103-106. doi:10.1038/sj.bmt.1704070 Keywords: neuroblastoma; CD34; graft-versus-tumorThe therapeutic effect of donor lymphocyte infusion (DLI) for relapsed CML after allogeneic bone marrow transplantation (BMT) has been established, 1 and the immunotherapeutic aspect of allogeneic hematopoietic stem cell transplantation (HSCT) has recently been emphasized, especially since the introduction of a reduced-intensity preparative regimen followed by allogeneic HSCT. Successful nonmyeloablative allogeneic PBSCT for metastatic renal cell carcinoma was reported by Childs et al. 2Although similar trials have been ongoing for many kinds of solid tumors, 3 a graft-versus-tumor (GVT) effect against neuroblastoma (NBL) has not been reported. We describe a patient with refractory advanced NBL who showed tumor regression over 3 years after allogeneic SCT, despite persistent metastatic lesions after SCT. This is the first case suggesting a GVT effect in neuroblastoma. Case reportA 4-year-old boy was diagnosed with stage 4 NBL (INSS: international neuroblastoma staging system) involving his right adrenal gland, multiple para-aortic lymph nodes, bone marrow and multiple bones in April 1997. Tumor markers were abnormally elevated at the diagnosis. Urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) were 313.6 (upper limit 16.0) and 251.0 (upper limit 35.0) mg/mg creatinine, respectively. Serum neuron-specific enolase (NSE) was beyond the range of measurement (41000 ng/ml, upper limit 10.0). The response for induction chemotherapy (modified A1: 4 vincristine, cyclophosphamide, pirarubicin and cisplatin, CPT-11) was partial and double megatherapy was performed (Figure 1) according to our strategy. The first megatherapy, consisting of ifosfamide (12.5 g/m 2 ) and LPAM (210 mg/m 2 ) followed by autologous CD34-positive BM cell rescue, was given in November 1997. CD34-positive cells were collected by the Isolex system (NEXELL, Deerfield, IL, USA) and cryopreserved during repeated first-line chemotherapy aimed at purging of tumor cells. Extirpation of the primary tumor with ipsilateral nephrectomy and biopsy of the para-aortic lymph nodes and a bone marrow were carried out after the first megatherapy in December 1997. Viable NBL cells were found histologically in the resected tumor, sampled lymph nodes and a bone specimen. Prognostic evaluations of the resected tumors were as ...

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The distribution of alpha1-6 chains of type IV collagen (alpha1-6(IV)) in human fetal kidneys was examined by indirect immunofluorescence. By 11 weeks of gestation, alpha1, 2, 3, 4, and 6(IV) were already present, but alpha5(IV) appeared relatively late, at 21 weeks. Alpha1(IV) and alpha2(IV) were present in all basement membranes, alpha3(IV) and alpha4(IV) were restricted to the glomerular basement membrane and parts of the tubular basement membrane. Alpha5(IV) was distributed in the glomerular basement membrane, Bowman's capsule, and parts of the tubular basement membrane. Alpha6(IV) was present in the Bowman's capsule, parts of the tubular basement membrane, and occurred in parts of the glomerular basement membrane at the early capillary loop stage, but disappeared during the later capillary loop stage.

Summary:Although the prognosis of clear cell sarcoma of the kidney (CCSK) has improved, when metastases occur the probability of cure is very low. We have treated two pediatric patients with relapsed CCSK, one with multiple bone metastases and another with brain metastases. After one or two courses of re-induction chemotherapy and radiation therapy to the sites of metastasis, they received double high-dose chemotherapy with autologous bone marrow rescue. Conditioning regimens were ifosphamide plus melphalan for the first autograft and busulfan plus thiotepa for the second. Hematological recovery was prompt, and no severe complications were observed. They are doing well without evidence of recurrence at 19 and 49 months after the second autograft, respectively. Keywords: clear cell sarcoma of the kidney (CCSK); bone marrow transplantation; childhood Clear cell sarcoma of the kidney (CCSK) was first described by Kidds 1 in 1970, and its histologic characteristics were defined thereafter. 2,3 It was also called bonemetastasizing renal tumor of childhood by Marsden et al 2 due to its unusual pattern of spread.Investigation of the efficacy of therapies for CCSK in the National Wilms' Tumor Study (NWTS)-1, NWTS-2 and NWTS-3 revealed that addition of doxorubicin to the combination of vincristine plus dactinomycin improved the 6-year relapse-free survival rate of this tumor. 3 However, about one-third of children with CCSK died due to treatment failure. The prognosis for relapsed cases is very poor and no convincing treatment strategy has been thus far established. 4 We present two patients with CCSK relapsing during the treatment of NWTS-3 who received intensive treatments including double autografts. They have remained in second remission longer than first remission. Case reports Case 1A 22-month-old boy presented in April 1992 with a history of vomiting and abdominal distention. A CT scan showed a large mass in the left renal fossa. Bone marrow aspiration, CT scan of the lung and brain, and bone scintigrams showed no metastases. A left radical nephrectomy was carried out and the resected kidney contained a large tumor which weighed 710 g and measured 11.2 × 11 × 8.9 cm. Microscopic examination showed nests or cords of cells separated by a network of small capillaries. The nuclei of the tumor cells were finely granular, imparting an 'empty' appearance compatible with CCSK.

SummaryMevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS.