Targeted Next-Generation Sequencing Reveals Divergent Clonal Evolution in Components of Composite Pleomorphic Xanthoastrocytoma-Ganglioglioma.

Composite pleomorphic xanthoastrocytoma-ganglioglioma (PXA-GG) is an extremely rare central nervous system neoplasm with 2 distinct but intermingled components. Whether this tumor represents a "collision tumor" of separate neoplasms or a monoclonal neoplasm with divergent evolution is poorly understood. Clinicopathologic studies and capture-based next generation sequencing were performed on extracted DNA from all available PXA-GG at 2 medical centers.

Adjuvant Maintenance Larotrectinib Therapy in 2 Children With NTRK Fusion-positive High-grade Cancers.

Treatment-related morbidity drives research to identify targetable lesions in children with cancer. Neurotrophic tropomyosin receptor kinase (NTRK) alterations occur in ~1% of pediatric solid tumors. Early phase pediatric trials involving the NTRK inhibitor treatment for progressive NTRK-mutated cancers show promising results.

Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.

Brain tumors are the most common solid tumors of childhood, and the genetic drivers and optimal therapeutic strategies for many of the different subtypes remain unknown. Here, we identify that bithalamic gliomas harbor frequent mutations in the EGFR oncogene, only rare histone H3 mutation (in contrast to their unilateral counterparts), and a distinct genome-wide DNA methylation profile compared to all other glioma subtypes studied to date. These EGFR mutations are either small in-frame insertions within exon 20 (intracellular tyrosine kinase domain) or missense mutations within exon 7 (extracellular ligand-binding domain) that occur in the absence of accompanying gene amplification.

Pulmonary veno-occlusive disease: Two children with gradual disease progression.

Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis are rare forms of pulmonary vascular disease. We report two cases of affected children who had evidence of pulmonary hypertension 3-5 years before developing radiographic findings of pulmonary veno-occlusive disease or pulmonary capillary hemangiomatosis. Both patients experienced a moderate decrease in pulmonary arterial pressure during acute vasodilator testing.

Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis.

"Sudden Infant Death syndrome" (SIDS) represents the commonest category of infant death after the first month of life. As genome scale sequencing greatly facilitates the identification of new candidate disease variants, the challenges of ascribing causation to these variants persists. In order to determine the extent to which SIDS occurs in related individuals and their pedigree structure we undertook an analysis of SIDS using the Utah Population Database, recording, for example, evidence of enrichment for genetic causation following the back-to-sleep recommendations of 1992 and 1994.

Embryonal Tumor With Abundant Neuropil and True Rosettes: A Distinct Immunohistochemical Pattern.

Embryonal tumors with abundant neuropil and true rosettes (ETANTR) are rare pediatric embryonal neoplasms that combine features of neuroblastoma and ependymoblastoma. We report a distinct immunohistochemical-staining pattern of ETANTR in a 12-month-old baby who presented with a supratentorial mass. The tumor exhibited a characteristic biphasic pattern of neuropil-rich areas and patchy cellular neuropil-poor areas.

Primary T cell central nervous system lymphoblastic lymphoma in a child: case report and literature review.

Purpose: Primary central nervous system lymphoma (PCNSL) of T cell origin is rare in pediatric patients. We report a case of T cell PCNSL in a 12-year-old boy and review the literature to highlight the importance of brain biopsy to definitively establish the diagnosis when PCNSL is suspected.

Case Report: A 12-year-old boy presented with worsening left-sided weakness, nausea, vomiting, headache, blurred vision, and diplopia.

Epstein-Barr virus infection is inversely correlated with the expression of retinoblastoma protein in Reed-Sternberg cells in classic Hodgkin lymphoma.

Classic Hodgkin lymphoma (cHL) is characterized by few neoplastic Hodgkin/Reed-Sternberg (H/RS) cells in a background of intense inflammatory infiltrate. Epstein-Barr virus (EBV) has been shown to affect cell cycle and regulation of apoptosis. In total, 82 cases of cHL were studied.

Chemotherapy induced microsatellite instability and loss of heterozygosity in chromosomes 2, 5, 10, and 17 in solid tumor patients.

Background: The inevitable side effects of the currently used chemotherapy are associated with serious syndromes. Genotoxic effects and consequent genetic instability may play an important role in these syndromes. The aim of the study was to evaluate chemotherapy-related microsatellite instability (MSI), loss of heterozygosity (LOH), and loss of mismatch repair (MMR) expression in solid tumor patients.

Two cases of Scimitar syndrome associated with multiple congenital skeletal anomalies and lacking abnormalities by genomic microarray analysis.

Scimitar syndrome is a congenital anomaly occurring in approximately 1/50,000 births, consisting of partial anomalous pulmonary venous return, right lung hypoplasia, and several associated defects. The condition generally has significant morbidity and mortality, but the underlying cause is poorly understood. In this report, we describe 2 autopsy cases of Scimitar syndrome associated with multiple skeletal anomalies and attempt to characterize possible genetic abnormalities in this condition.

Epstein-Barr virus infection correlates with the expression of COX-2, p16(INK4A) and p53 in classic Hodgkin lymphoma.

Classic Hodgkin lymphoma (cHL), a germinal-center related B cell neoplasm in almost all cases, is characterized by scarcity of the neoplastic Hodgkin/Reed-Sternberg (H/RS) cells. Epstein-Barr virus (EBV) has been shown to affect cell cycle and regulation of apoptosis. In total, 95 cases of cHL were studied.

Microsatellite instability and loss of heterozygosity detected in middle-aged patients with sporadic colon cancer: A retrospective study.

Microsatellite instability (MSI) is a mutator phenotype that results from a defective mismatch repair (MMR) pathway. The present study examined the incidence of MSI and loss of heterozygosity (LOH) according to five markers from the panel of the National Cancer Institute (NCI) in 38 colorectal cancer (CRC) patients from the United Arab Emirates (UAE). MSI and LOH were analyzed using fragment analyses in a multiplex PCR setting on a capillary array electrophoresis platform.

Management of peri-anal giant condyloma acuminatum--a case report and literature review.

Giant condyloma acuminatum (GCA), originally described by Buschke and Loewenstein in 1925 as a lesion of the penis, is more rarely seen in the anorectum and is characterized by clinical malignancy in the face of histologic benignity; however, malignant transformation to frankly invasive squamous-cell carcinoma has been described in about one-third of patients. In addition, malignant transformation has been reported in patients with "ordinary" condylomata acuminata. Human papillomavirus, known to cause condylomata acuminata, is also known to induce these tumors and was found in 96% of 63 cases reviewed in the last 10 years.

High incidence of microsatellite instability and loss of heterozygosity in three loci in breast cancer patients receiving chemotherapy: a prospective study.

Background: The aim of the study was to evaluate potential chemotherapy-induced microsatellite instability, loss of heterozygosity, loss of expression in mismatch repair proteins and associations with clinical findings in breast cancer patients, especially resistance to chemotherapy and/or development of other tumors in the four years following chemotherapy treatment.

Methods: A comprehensive study of chemotherapy-related effects with a follow-up period of 48 months post treatment was conducted. A total of 369 peripheral blood samples were collected from 123 de novo breast cancer patients.

HIF-1α, VEGF and WT-1 are protagonists in bilateral primary angiosarcoma of breast: a case report and review of literature.

Bilateral primary angiosarcoma of breast is an extremely rare disease. Only 4 cases had been described in the literature. Hypoxia inducible factor- 1 α (HIF-1α) is a transcription factor that binds to hypoxia response elements in the promoters of target genes.

Expression of Wilms tumor-1 protein and CD 138 in malignant mesothelioma of the tunica vaginalis.

Malignant mesothelioma (MM) of the tunica vaginalis is a very rare tumor which can be difficult to diagnose histologically. We report an 83-year-old patient with MM of tunica vaginalis of the left testis. To the best of our knowledge, this is the first reported case of MM of the tunica vaginalis expressing Wilms tumor-1 protein, CD138, the expression of which could help in confirming the histopathological diagnosis and in targeting therapy.

Expression of Galectin-3, CD138, p16INK4a, and TTF-1 in mucinous bronchioloalveolar adenocarcinoma after Hodgkin lymphoma.

Bronchioloalveolar carcinoma (BAC) is a subset of lung adenocarcinoma that has a distinct clinical presentation, tumor biology, response to therapy, and prognosis compared with other subtypes of non-small-cell lung carcinoma. BAC disproportionately affects women, never-smokers, and is characterized by growth along alveolar septae without evidence of stromal, vascular, or pleural invasion. Microscopically, BACs have been divided into mucinous, nonmucinous, and mixed types.

Malignant non-teratoid medulloepithelioma of ciliary body with retinoblastic differentiation: a case report and review of literature.

We present a 6-year-old child with intraocular and extraocular mass and high intraocular pressure. The tumor mass involved a disorganized anterior segment and extended through the medial cornea and sclera. A preliminary diagnosis of retinoblastoma with extraocular extension was made.

Churg-Strauss syndrome presenting as an abdominal mass in a non-asthmatic child.

A 2-year-old boy presented with an abdominal mass and was diagnosed as Churg-Strauss syndrome (CSS). There was no history of asthma. He developed fatal gastro-intestinal disease, despite treatment with corticosteroids and cyclophosphamide.

Expression of insulin-like growth factor-1 receptors, Wilm's tumor-1 protein, c-kit and p16 in primary fallopian tube carcinoma in diabetic patients.

Background: Primary fallopian tube carcinoma (PFTC) represents less than 1% of all gynecological malignancies and its association with diabetes mellitus is seldom reported.

Cases: We report three cases of PFTC presented primarily as advanced ovarian cancer while the primary site totally silent. Two of them were diabetics and showed expression of insulin-like growth factor receptors, Wilm's tumor protein-1, c-kit and P16.

Role of non-selective adenosine receptor blockade and phosphodiesterase inhibition in cisplatin-induced nephrogonadal toxicity in rats.

1. It is well documented that cisplatin (CDDP) treatment increases the expression of adenosine A(1) receptors in both kidney and testes. However, the effect of adenosine at these receptors is controversial.

Cardiotoxicity of doxorubicin/paclitaxel combination in rats: effect of sequence and timing of administration.

The higher incidence of cardiotoxicity of doxorubicin (DOX)/paclitaxel (PTX) combination compared with DOX alone remains to be a major obstacle against effective chemotherapeutic treatment. We investigated the effect of sequence and time interval between administration of both drugs on the severity of cardiotoxicity of the combination. Male Wistar rats were divided into seven groups.

Juvenile papillomatosis of the breast in male infants: two case reports.

Juvenile papillomatosis of the breast ("Swiss cheese disease") is a benign localized proliferative condition of the breast which occurs almost exclusively in young adult women. Patients with this lesion often have a family history of breast carcinoma, and rarely carcinoma may coexist with the lesion at the time of diagnosis. We present two cases of male infants with juvenile papillomatosis of the breast.