Anaplastic sarcoma of the kidney with chromosomal abnormality: first report on cytogenetic findings.

We report a case of anaplastic sarcoma of the kidney (ASK) with cytogenetic findings. A 12-year-old Japanese girl presented with buttock pain and urinary incontinence. Radiological investigations revealed a right renal tumor with multiple distant metastases and multicystic thyroid tumor.

Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma.

We report a case of perivascular epithelioid cell tumor (PEComa) with an SFPQ/PSF-TFE3 gene fusion in a 14-year-old girl treated for adrenal neuroblastoma for 4 years. Imaging studies revealed a tumor in the wall of the sigmoid colon, which was radiologically different from the neuroblastoma, together with several inguinal and cervical lymph node metastases of the neuroblastoma. Microscopically, the tumor in the sigmoid colon showed sheet-like growth of epithelioid cells with abundant clear cytoplasm and round nuclei, which were separated by thin fibrovascular septa.

In vitro effect of fludarabine, cyclophosphamide, and cytosine arabinoside on chromosome breakage in Fanconi anemia patients: relevance to stem cell transplantation.

Designing stem cell transplantation (SCT) conditioning regimens for Fanconi anemia (FA) has proved difficult because of hypersensitivity to the DNA cross-linking agents. We performed chromosome fragility tests with 56 FA patients and with 50 non-FA patients with severe aplastic anemia or myelodysplastic syndrome. We evaluated peripheral blood lymphocyte specimens cultured for 72 hours and treated with mitomycin C, diepoxybutane (DEB), cyclophosphamide (CY) metabolites, cytosine arabinoside (Ara-C), and fludarabine (Flu) metabolite (9-beta-D-arabinofuranosyl-2-fluoroadenine [2-F-Ara-A]).

Allogeneic haematopoietic cell transplantation from alternative donors with a conditioning regimen of low-dose irradiation, fludarabine and cyclophosphamide in Fanconi anaemia.

A pilot study was undertaken using a fludarabine-based conditioning regimen to improve haematopoietic cell transplantation (HCT) from alternative donors in 27 Fanconi anaemia (FA) patients. Patients were conditioned with 150-180 mg/m2 of fludarabine, 40 mg/kg of cyclophosphamide, 5-10 mg/kg of antithymocyte globulin, and 300-450 cGy of thoracoabdominal/total body irradiation. One patient who received unrelated cord blood transplantation failed to engraft, another patient died of sepsis.

Secondary G-CSF mobilized blood stem cell transplantation without preconditioning in a patient with Gaucher disease: Report of a new approach which resulted in complete reversal of severe skeletal involvement.

Gaucher disease has been treated by allogeneic bone marrow transplantation (BMT), however, severe bone involvement that is probably the most disabling aspect of this disease is difficult to reverse. Other problem of BMT is the use of intensive preconditioning that adversely affects growth and development of the patients. In this study, a patient with type I Gaucher disease was treated by allogeneic BMT from HLA-matched sibling donor.

Fatal adenovirus infection indistinguishable from thrombotic microangiopathy after allogeneic CD34+ peripheral progenitor cell transplantation.

A 10-year-old boy with acute lymphoblastic leukemia in second relapse received CD34+ purified allogeneic peripheral blood stem cell transplantation (PBSCT) from his HLA-haploidentical father. The patient developed grade II acute GVHD and received high-dose methyl-prednisolone starting on day + 13 posttransplant. Renal dysfunction followed by massive gastrointestinal bleeding was observed from day + 14.

Long-term follow-up of thyroid function in patients who received bone marrow transplantation during childhood and adolescence.

An increasing number of long-term surviving bone marrow transplant (BMT) recipients have recovered from their primary disease but are at risk of developing failure of endocrine organs. We investigated 147 patients who underwent allogeneic BMT. Thyroid function was evaluated by serial measurement of basal TSH and free T4 levels as well as by TRH provocative test.

Unmanipulated HLA-haploidentical bone marrow transplantation for the treatment of fatal, nonmalignant diseases in children and adolescents.

Fetomaternal microchimerism has been demonstrated, and immunologic tolerance to unshared HLA antigens between mother and offspring may be suggested. We used T-cell-repleted bone marrow transplantation (BMT) from their HLA-haploidentical mothers to treat 6 patients with fatal nonmalignant diseases. The number of mismatched HLA loci in the graft-versus-host disease (GVHD) direction was 3 in 4 patients and 2 in 2 patients.

Changes in thyroid function after bone marrow transplant in young patients.

Background: Changes in thyroid function among young patients who received bone marrow transplantation (BMT) were evaluated.

Methods: The study included 91 patients (50 males) who underwent BMT from 1985 to 1995 at the age of 0.6-21 years.

The kinetics of immune reconstitution after cord blood transplantation and selected CD34+ stem cell transplantation in children: comparison with bone marrow transplantation.

The present study compares immune reconstitution after allogeneic cord blood transplantation (CBT) and CD34+ stem cell transplantation (CD34-SCT) with that after bone marrow transplantation (BMT). Eighty-eight children who underwent CBT (20 patients), BMT (58), and CD34-SCT (10) were enrolled, and lymphocytes and T-, B-, and natural killer-lymphocyte subsets were monitored for more than 5 years after transplantation. CBT recipients showed significant ircreases in (1) total lymphocyte counts (P < .