Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients.

Stress-related mental disorders in childhood cancer survivors.

Background: This report evaluated the association between surviving pediatric cancer and receiving a diagnosis of a stress-related mental disorder (SRMD) (i.e., post-traumatic stress disorder (PTSD), acute stress disorder, or adjustment disorders).

Characterization of the gammadelta T cell response to acute leukemia.

Background: Previous work from our center has suggested a correlation between increased donor-derived Vdelta1+ gammadelta T cells and long-term relapse-free survival following bone marrow transplantation for leukemia. Questions remain, however, as to whether this observation can be explained by a gammadelta T cell-based immune response against primary leukemia.

Methods: We examined gammadelta T cell receptor (TCR) phenotype, cell proliferation, and cytolytic activity following culture with irradiated primary leukemia blasts from a haploidentical first-degree relative.

T-cell lymphoblastic leukemia/lymphoma syndrome with eosinophilia and acute myeloid leukemia.

This case represents an example of an unusual T-cell lymphoblastic leukemia/lymphoma syndrome associated with eosinophilia and myeloid malignancy in a young boy. This case is one of only five reported "leukemic" variants of the disease and demonstrates the importance of considering this poor prognostic diagnosis in pediatric acute lymphoblastic leukemia. This case also illustrates the importance of an interactive multidisciplinary approach to the laboratory evaluation of a leukemia patient.

Case Report: grandmother, mother and another -- an intergenerational surrogacy using anonymous donated embryos.

Surrogacy and embryo donation remain beneficial but controversial infertility therapies. This is the first report of a pregnancy and subsequent birth of healthy twins following a surrogacy involving a female patient's biological mother as surrogate, but using anonymously donated embryos. Due to the novelty of combining intergenerational surrogacy with embryo donation, the legal side of adoption has taken over 3 years to complete.

Membranoproliferative glomerulonephritis develops in a child with autologous stem cell transplant.

Bone marrow transplant nephropathy is a known complication of bone marrow transplantation. Bone marrow transplantation can cause various rare kidney diseases such as membranous nephropathy and focal segmental glomerulosclerosis. Idiopathic membranoproliferative glomerulonephritis is rare in children.

A treatable cause of ataxia in children.

An 11-year-old black male presenting with severe subacute sensory ataxia, unusual skin hyperpigmentation, megaloblastic anemia, low serum B12 levels, and an abnormal part I Schilling test was diagnosed with pernicious anemia in the context of a polyglandular syndrome. Intrinsic factor and thyroid microsomal antibodies were positive, and thyroid-stimulating hormone levels were undetectable. There was a strong familial aggregation because the mother, a maternal aunt, the maternal grandfather, and the maternal great-grandmother had been diagnosed with pernicious anemia, albeit of unspecified etiology.

Prophylaxis and therapy with factor VII concentrate (human) immuno, vapor heated in patients with congenital factor VII deficiency: a summary of case reports.

Hereditary factor VII deficiency is a rare autosomal recessive condition, usually associated with normal or reduced levels of a functionally defective molecule. The available means of treating this condition in North America presents serious health risks to the patient. Transfusion with fresh frozen plasma carries a risk of volume overload and a significant risk for viral transmission.

The aftermath of bone marrow transplant for parents of pediatric patients: a post-traumatic stress disorder.

Purpose/objectives: To describe the characteristics of a child's bone marrow transplant (BMT) experience that may precipitate a post-traumatic stress disorder (PTSD) in the parent.

Data Sources: Published articles, books, and the authors' clinical experience.

Data Synthesis: When viewed from the PTSD framework, parental reactions to a child's BMT offer striking parallels that include assessment of the event as traumatic, re-experiencing the event, intrusive thoughts, and a variety of emotional and cognitive responses.

Human tumor cells resistant to verapamil.

The efficacy of the calcium channel blocker verapamil for enhancing at low concentrations the cytotoxicity of unrelated antineoplastic drugs and for inhibiting at high concentrations cell proliferation has stimulated interest in the underlying mechanisms of these two diverse effects. We have selected two human brain tumor cell lines (a TE671 medulloblastoma and a A172 glioma line) for resistance against 100 uM verapamil to aid in the elucidation of the mechanism of verapamil's antiproliferative effect. Our first experiments on the selected TE671 medulloblastoma cells show that, in the presence of 100 uM verapamil, these cells grow at a rate similar to that observed for the sensitive cells in the absence of verapamil.

Effect of verapamil on cell cycle transit and c-myc gene expression in normal and malignant murine cells.

Verapamil, the prototype calcium channel blocker, reversibly inhibits cell proliferation in many normal and tumour cell lines (Schmidt et al., Cancer Res., 48, 3617, 1988).

Antiproliferative effect of verapamil alone on brain tumor cells in vitro.

Recent studies have shown that the calcium channel blockers, when combined with standard anticancer drugs, help overcome resistance that often develops to those drugs. Little is known about the effects of the calcium channel blockers themselves on tumor cells. We have studied the effects of one calcium channel blocker, verapamil, on human tumor cell lines in vitro.

Conversion to resectability by intra-arterial infusion chemotherapy after failure of systemic chemotherapy.

A 17 cm hepatoblastoma was unresectable at initial exploration. Multiagent chemotherapy (ADR, CTX, VCR, 5FU, BLEO) incurred minimal response at 5 months. Infuse-A-Ports were placed in each hepatic artery and FUDR infused intermittently but there was no response at 6 weeks.

Spurious elevated platelet counts associated with bacteremia.

Spuriously elevated automated platelet counts secondary to in vivo bacteremia have not been reported previously. Two patients are described with blood cultures positive for Escherichia coli and Klebsiella pneumoniae, respectively, and bacteria present on peripheral blood smear. Those bacteria caused falsely elevated platelet counts to be generated by the Ortho ELT-8.

Acute cytoreduction techniques in the early treatment of hyperleukocytosis associated with childhood hematologic malignancies.

Early and effective cytoreduction for high peripheral white blood cell counts in pediatric patients with acute leukemia may be helpful in preventing complications secondary to hyperviscosity. It also may be a useful adjunct to systemic chemotherapy. As an alternative to automated apheresis for this purpose, manual exchange transfusion is efficacious and does not require hemapheresis instrumentation and disposables and the related special staff.

Development of an inhibitor specific to factor VIII: coagulant activity in a patient with platelet-type von Willebrand's disease.

Platelet-type von Willebrand's disease is a recently described autosomal dominant bleeding disorder characterized by decreased ristocetin cofactor activity, lack of the higher molecular weight von Willebrand Factor (vWF) multimers on SDS agarose gel electrophoresis, increased platelet aggregation with low concentrations of ristocetin, and increased ristocetin-induced binding of normal vWF to patient platelets. In this report the authors describe a 17-month-old male with Platelet-type von Willebrand's disease, inherited from the paternal side of his family, who developed an inhibitor specific to Factor VIII:C. The patient's plasma inhibited normal plasma VIII:C and partially purified VIII:C; it did not appear directed against normal VIIIR:Ag or ristocetin cofactor.

Non-Hodgkin's lymphoma with immunologic phenotype similar to non-T, non-B acute lymphocytic leukemia.

A diagnosis of diffuse poorly differentiated lymphocytic lymphoma was made from a biopsy of a scapular mass on a 24-month-old child. The bone marrow and peripheral blood were not involved in the neoplastic process. Neoplastic cells stained negatively for Sudan black B, myeloperoxidase, periodic acid-Schiff reagent, alpha-naphthyl acetate esterase, and acid phosphatase.