Ovarian Cancer, Cancer Stem Cells and Current Treatment Strategies: A Potential Role of Magmas in the Current Treatment Methods.

Epithelial ovarian cancer (EOC) constitutes 90% of ovarian cancers (OC) and is the eighth most common cause of cancer-related death in women. The cancer histologically and genetically is very complex having a high degree of tumour heterogeneity. The pathogenic variability in OC causes significant impediments in effectively treating patients, resulting in a dismal prognosis.

Verification of supraselective drug delivery for retinoblastoma using intra-arterial gadolinium.

We present a description of retinoblastoma treated with supraselective intra-arterial chemotherapy, demonstrating selective delivery of the infused chemotherapeutic agent into the tumor bed by MRI. A 7-month-old presented with group E (international classification) unilateral retinoblastoma. We treated the patient with several rounds of intra-ophthalmic artery melphalan.

Verification of supraselective drug delivery for retinoblastoma using intra-arterial gadolinium.

We present a description of retinoblastoma treated with supraselective intra-arterial chemotherapy, demonstrating selective delivery of the infused chemotherapeutic agent into the tumor bed by MRI. A 7-month-old presented with group E (international classification) unilateral retinoblastoma. We treated the patient with several rounds of intra-ophthalmic artery melphalan.

The yeast magmas ortholog pam16 has an essential function in fermentative growth that involves sphingolipid metabolism.

Magmas is a growth factor responsive gene encoding an essential mitochondrial protein in mammalian cells. Pam16, the Magmas ortholog in Saccharomyces cerevisiae, is a component of the presequence translocase-associated motor. A temperature-sensitive allele (pam16-I61N) was used to query an array of non-essential gene-deletion strains for synthetic genetic interactions.

Essential role of Drosophila black-pearl is mediated by its effects on mitochondrial respiration.

Black-pearl (Blp) is a highly conserved, essential inner-mitochondrial membrane protein. The yeast Blp homologue, Magmas/Pam16, is required for mitochondrial protein transport, growth, and survival. Our purpose was to determine the role of Drosophila Blp in mitochondrial function, cell survival, and proliferation.

Design, synthesis, and biological activity of novel Magmas inhibitors.

Magmas (mitochondria associated, granulocyte-macrophage colony stimulating factor signaling molecule), is a highly conserved and essential gene, expressed in all cell types. We designed and synthesized several small molecule Magmas inhibitors (SMMI) and assayed their effects on proliferation in yeast. We found that the most active compound 9 inhibited growth at the 4 μM scale.

A unique case of rhabdoid tumor presenting as hemoperitoneum in an infant.

We report the first pediatric case of an extrarenal, noncentral nervous system, diffusely metastatic, gastrointestinal rhabdoid tumor in a 106-day-old, previous 25-week preterm infant. The unusual clinical presentation, the diagnosis, and biology of this tumor as well as the etiology of hemoperitoneum in neonates and infants are discussed.

Severe Evans syndrome with multi-system involvement is a distinct immunodeficiency disorder.

A female infant who presented with autoimmune hemolytic anemia and thrombocytopenia subsequently developed hepatic, dermatologic, renal, pulmonary, gastrointestinal, endocrine, and nervous system involvement. Prolonged and intensive treatment with prednisone, IVIG, mycophenolate mofetil, and anti-CD20 and anti-CD52 antibodies was necessary to control the symptoms. Laboratory evaluation showed normal lymphocyte subsets and function.

Therapeutic strategies for targeting mononuclear phagocytes in cancer.

The initiation and progression of cancer is dependent on factors both intrinsic and extrinsic to the malignant cells. Stromal, vascular endothelial, and inflammatory cells are the principal normal populations that support tumors by supplying factors and nutrients. The mononuclear phagocyte lineage, which includes monocytes, macrophages, and dendritic cells is of particular clinical interest because lineage members can enhance tumor angiogenesis and metastasis, or alternately contribute to tumor destruction.

New roles for mononuclear phagocytes in cancer biology.

The primary focus in the pathogenesis and treatment of human malignancies has been the tumor cell. However, the biologic properties of a malignancy are not all intrinsically determined. Interactions between heterogeneous cell populations influence the growth and survival of both normal and malignant cells.

A syndrome of holoprosencephaly, recurrent infections, and monocytosis.

We describe three siblings with holoprosencephaly, recurrent infections, and increased peripheral blood monocytes. These children were born to apparently healthy parents in a family with one unaffected child. Affected individuals had microcephaly, severe developmental delay, failure to thrive, and brachydactyly.

Abdominal pain in a patient with osteosarcoma.

Abdominal pain often occurs in patients receiving chemotherapy. The authors describe a patient with osteosarcoma who developed severe right-sided abdominal discomfort several days after being admitted for fever, neutropenia, and mucositis. Unexpectedly, the patient's pain was not therapy-related, but rather was caused by a midline pelvic mass.

Acute myeloid leukemia presenting as spinal cord compression.

We report the findings of a 10-year-old boy who presented to a pediatric emergency department with symptoms of spinal cord compression. Radiological imaging demonstrated multiple soft tissue masses in the head and spine. The surgical pathology showed that the masses were comprised of myeloid leukemia cells.

Magmas gene structure and evolution.

Magmas is a nuclear encoded protein found in the mitochondria of mammalian cells. It participates in granulocyte-macrophage-colony stimulating factor (GM-CSF) signaling in hematopoietic cells and has an essential role in invertebrate development. In order to characterize the protein structural features and gene evolution of Magmas, a dataset containing 61 Magmas homologs from 52 species distributed among animals, plants and fungi was analyzed.

Accumulation of an intron-retained mRNA for granulocyte macrophage-colony stimulating factor receptor common beta chain in neutrophils of myelodysplastic syndromes.

We recently identified a reduction in the neutrophil surface expression of common beta chain (beta c) of the receptor for granulocyte macrophage-colony stimulating factor (GM-CSF) in the patients with myelodysplastic syndromes (MDS). To determine the etiology of the impaired beta c expression, beta c mRNA from neutrophilic granulocytes of MDS patients and healthy controls was analyzed by a combination of direct reverse transcriptase-polymerase chain reaction-based single-strand conformational polymorphism and sequencing. Nine different beta c transcripts were detected, but none was specific for MDS.

Successful treatment of a patient with mixed warm and cold antibody mediated Evans syndrome and glucose intolerance.

Thrombocytopenia and autoimmune hemolytic anemia (Evans syndrome) with the presence of both warm and cold autoantibodies (mixed type) are rare in the pediatric age group. This condition may be associated with other autoimmune disorders and is notoriously difficult to treat. This case describes an adolescent male who presented with rapid onset Evans syndrome and diabetes.

Magmas expression in neoplastic human prostate.

Magmas, is a 13-kDa mitochondrial protein which is ubiquitously expressed in eukaryotic cells. It was identified as a granulocyte-macrophage-colony stimulating factor (GM-CSF) inducible gene in hematopoietic cells and has a key role in the transport of mitochondrial proteins in yeast. Because GM-CSF receptor levels are elevated in prostate cancer, Magmas expression was examined in normal and neoplastic tissue.

Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome.

Choroid plexus carcinoma (CPC) is an uncommon central nervous system tumor requiring complete surgical excision for favorable outcome. The authors report the successful treatment of a 2-year-old patient with widely disseminated CPC and Li-Fraumeni syndrome. Following a partial resection of the tumor the patient received chemotherapy consisting of cyclophosphamide, etoposide, and carboplatin.

Developmental expression of Magmas in murine tissues and its co-expression with the GM-CSF receptor.

Magmas is a protein that is involved in GM-CSF signaling in a myeloid cell line. Its precise role in the signal transduction process is unclear. To accurately characterize Magmas expression in a variety of cells, mouse embryos and adult murine tissues were analyzed for both mRNA and protein content.

Hypercalcemia in Langerhans cell histiocytosis: is it therapy-related?

Hypercalcemia is not known to be a common occurrence in patients with Langerhans cell histiocytosis (LCH). This manuscript describes an infant with multisystem LCH who developed an elevated serum calcium level while on therapy. Unlike other cases of hypercalcemia, this patient did not have evidence of bone involvement.

Thrombotic thrombocytopenic purpura in a newborn.

This report describes a newborn who presented with hyperbilirubinemia and thrombocytopenia. The patient recovered after treatment with antibiotics, phototherapy, and a platelet transfusion. Analysis of the plasma von Willebrand factor-cleaving metalloprotease, ADAMTS13, revealed low protease activity in the patient and her two siblings, and a mild deficiency in both parents.