PubMed · 15264198
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
Kirk Foster, David J Cohen, Vivette D D'Agati, Glen S Markowitz. 2004. Primary renal allograft dysfunction.. https://doi.org/10.1053/j.ajkd.2003.10.047
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
A 4-year-old girl with Noonan syndrome (NS) and constitutive PTPN11 mutation presented with stage 4 neuroblastoma and was treated by intensive chemotherapy. During the treatment, cytogenetic analysis revealed the development of a hyperdiploid clone with duplication of the germline PTPN11 mutation in a morphologically normal bone marrow. A few months later, the patient developed acute myelomonoblastic leukemia with an additional clonal deletion of 7q. Although, we cannot conclude whether there is an association between NS and neuroblastoma, this case suggests that duplication of germline PTPN11 mutations, potentially induced by chemotherapy, contributes to leukemogenesis in patients with NS.
Malignant germ cell tumors of the vagina represent a critical site for local treatment. We report on our experience with two vaginal endodermal sinus tumors. Treatment with PEB regimen induced both tumor regression and alpha fetoprotein normalization. One patient had a residual lesion that was biopsied twice and no viable tumor cells were ever found. Both patients remained alive and disease-free, without having had surgical procedures except for biopsies. Platinum-based chemotherapy is able to achieve complete remissions and should be considered for vaginal endodermal sinus tumors.
A child with a known diagnosis of an autosomal dominant macrothrombocytopenia, Fechtner Syndrome, developed acute myeloid leukemia (AML). Recently the disease gene for the inherited macrothrombocytopenias has been identified as MYH9, encoding for non-muscle myosin heavy chain-A. MYH9 has never been associated with the development of acute leukemia, but MYH11 is disrupted in the M4 eosinophilia sub-type of AML (inv16). The patients leukemic blasts did carry the common t(8;21) which yields an AML1-ETO fusion protein that inhibits AML-1. Despite his thrombocytopenia, the patient successfully completed intensive bone marrow cytoreduction without significant bleeding complications and is now in remission for over 3 years.