Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.

Infant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors have a higher mortality rate, while high-grade tumors have a better outcome. However, we have little understanding of their biology and therefore cannot explain this behavior nor what constitutes optimal clinical management. Here we report a comprehensive genetic analysis of an international cohort of clinically annotated infant gliomas, revealing 3 clinical subgroups.

Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.

Alterations of the PI3K/Akt/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are causally involved in a subset of malformations of cortical development (MCDs) ranging from focal cortical dysplasia (FCD) to hemimegalencephaly and megalencephaly. These MCDs represent a frequent cause of refractory pediatric epilepsy. The endocannabinoid system -especially cannabinoid CB receptor- exerts a neurodevelopmental regulatory role at least in part via activation of mTORC1 signaling.

Management and outcome of children and adolescents with non-medulloblastoma CNS embryonal tumors in Spain: room for improvement in standards of care.

Non-medulloblastoma CNS embryonal tumors (former PNET/Pineoblastomas) are aggressive malignancies with poor outcome that have been historically treated with medulloblastoma protocols. The purpose of this study is to present a tumor-specific, real-world data cohort of patients with CNS-PNET/PB to analyze quality indicators that can be implemented to improve the outcome of these patients. Patients 0-21 years with CNS-PNET treated in eight large institutions were included.

An Adolescent Presenting With Seizures as a Symptom of Gliomatosis Cerebri.

Gliomatosis cerebri is a diffuse infiltrating glioma of neuroepithelial origin that affects more than 2 cerebral lobes. This is rarely seen in pediatric patients. The clinical presentation and imaging are very unspecific, and a biopsy is typically needed for the diagnosis.

Vulvar fetal rhabdomyoma mimicking 46XX sex differentiation disorder.

Rhabdomiomas are rare mesenchymal benign tumors of striated muscle origin. Setting aside the cardiac (most atrial) rhabdomiomas typically associated to neurocutaneous syndromes (tuberous sclerosis), extracardiac rhabdomyomas appear clinically as a subcutaneous nodule or as a submucosal polypoid lesion. Among them, three main histologic subtypes can be differentiated on the basis of the degree of tumor differentiation: 1) fetal rhabdomioma, usually diagnosed during childhood and almost exclusively located in the in the head and neck region with rare reports in other locations; 2) adult rhabdomioma; and 3) genital rhabdomioma, reported to occur in the lower genital tract of young and middle-aged women and, exceptionally, in children (5).

A phase I/II trial of interleukin-15--stimulated natural killer cell infusion after haplo-identical stem cell transplantation for pediatric refractory solid tumors.

Background Aims: Preliminary data suggest that T-cell-depleted haplo-identical stem cell transplantation (haplo-SCT) has a clinically beneficial allograft-versus-tumor effect associated with natural killer (NK) cell immune reconstitution.

Methods: This phase I/II trial descriptively evaluates the feasibility of interleukin (IL)-15-stimulated NK cell infusion after haplo-SCT in pediatric patients with refractory solid tumors.

Results: Six patients received an IL-15-stimulated NK cell infusion at 30 days after haplo-SCT.

Desmoplastic Trichoepithelioma: An Infrequent Entity not to be Missed: Report of Two Cases.

Desmoplastic trichoepitheliomas are rare benign tumors with follicular differentiation. They have rarely been described in children. We report two children with this uncommon condition.

Hemicerebellitis: Report of three paediatric cases and review of the literature.

Acute inflammation of a single cerebellar hemisphere (hemicerebellitis) is a rare disorder of unknown origin. The clinical presentation is mainly characterized by headache, ataxia, dysmetria, and vomiting. In addition, some children may develop severe intracranial hypertension.

Inferior vena cava aneurysm in an infant presenting with a renal mass.

Aneurysm of the inferior vena cava is a rare finding in the pediatric population. We report the case of a 5-month-old infant presenting with anemia, hypertension, and dehydration in the emergency room. A renal mass was found with ultrasound and MRI and a renal tumor was first considered.

A role for the CXCR3/CXCL10 axis in Rasmussen encephalitis.

Background: Rasmussen encephalitis is a devastating pediatric syndrome of unknown etiology that is characterized by progressive loss of neurological function and intractable focal epilepsy. Cytotoxic T lymphocytes have an active role in the pathogenic process of Rasmussen encephalitis. We studied the implication of CXCL10-CXCR3, a chemotactic axis involved in the pathogenesis of several cases of immune encephalitis.

In vitro Natural Killer Cell Immunotherapy for Medulloblastoma.

How the immune system attacks medulloblastoma (MB) tumors effectively is unclear, although natural killer (NK) cells play an important role in immune defense against tumor cells. Interactions between receptors on NK cells and ligands expressed by tumor cells are critical for tumor control by immunotherapy. In this study, we analyzed tumor samples from 54 MB patients for expression of major histocompatibility complex class I-related chains A (MICA) and UL16 binding protein (ULPB-2), which are ligands for the NK group 2 member D activatory receptor (NKG2D).

Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

Ataxia-telangiectasia (A-T) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, a high incidence of lymphoreticular tumors, and an increased sensitivity to chemoradiotherapy-induced DNA damage. The appropriate cancer therapy remains unknown because of high toxicity rates with full-dose conventional protocols. We present a patient with A-T and nephroblastoma, who received an adapted treatment regimen.

Rituximab in lymphomatoid granulomatosis.

Background: Lymphomatoid granulomatosis (LG) is an Epstein-Barr virus-associated, multisystemic disease that combines a granulomatous inflammatory process with lymphoproliferative potential. It is a rare disorder with a variable clinical presentation ranging from an indolent process to an aggressive B-cell lymphoma. Outcome is unpredictable, and a standard treatment has not yet been established.

Pleuropulmonary blastoma as characteristic cause of pneumothorax.

Background: Pleuropulmonary blastoma (PPB) is the most common lung neoplasms in childhood. Usually presents as recurrent respiratory infections and in some cases as pneumothorax.

Case Report: We report the case of a 2-year-old patient that was diagnosed with PPB, that first manifested as recurrent pneumothorax.

Systemic juvenile xanthogranuloma with fatal outcome.

Juvenile xanthogranuloma is a benign and self-limited disease which usually appears in the skin of children. Visceral involvement has been rarely reported, as has fatal outcome in some affected individuals. We report a case of systemic juvenile xanthogranuloma in a female newborn with mainly skin, bone marrow, and liver involvement, leading to death at the age of 2 months.

The effect of intestinal trichinellosis on oral bioavailability of albendazole in mice.

The effect of Trichinella spiralis infection on the pharmacokinetic profile of orally administered albendazol has been investigated in mice during the intestinal phase of the disease. Swiss CD-1 mice were orally infected with 300 +/- 50 muscle larvae of T. spiralis and then treated with albendazole (ABZ) formulated in hydroxy-propyl-beta-cyclodextrins at the dose of 10 mg/kg given orally on days 0, 5, 10 and 22 post-infection (p.

Perforating neutrophilic and granulomatous dermatitis of the newborn--a clue to immunodeficiency.

We report two newborns with a widespread cutaneous eruption consisting of discrete papules which evolved into vesicles, pustules, crusts, and ulcers. These healed over a 2-week period with scarring. Histopathology showed three main features--histiocytic granulomas, neutrophilic infiltration, and transepidermal elimination of degenerated collagen and debris through hair follicles.

[Congenital botryoid rhabdomyosarcoma of the vulva].

Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface.

Erythema dyschromicum perstans in children: a report of 14 cases.

Background: Erythema dyschromicum perstans (EDP) or ashy dermatosis is a peculiar, slowly progressive, macular hyperpigmentation, which leaves a permanent discoloration. It is an acquired dermatosis that occurs most frequently in Central and South America. EDP usually appears in adults, but some isolated cases and small series have been reported in prepubertal children.

Basal cell carcinoma in childhood after radiation therapy: case report and review.

We describe 2 patients who received ionizing radiation as part of a curative regimen for childhood malignancy which later developed basal cell carcinoma at an early age. They do not occur within the context of well-defined syndromes, such like basal cell nevus syndrome, albinism, or xeroderma pigmentosum. Basal cell carcinomas appears on radiated areas in older individuals, less often in younger patients, in which the period of latency between exposure to radiation and the appearance of basal cell carcinomas is shorter than in older patients.

Extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus: an unusual example of twin spotting?

A 15-year-old boy had an unusual combination of giant congenital melanocytic nevus on his back and a large speckled lentiginous nevus arranged in a checkerboard pattern on the dorsal and lateral aspects of his trunk. The two pigmentary nevi showed distinguishing features both clinically and histopathologically. The speckled lentiginous nevus was not noted at birth but became visible during childhood.