Malignant glioma with primitive neuroectodermal tumor-like component (MG-PNET): novel microarray findings in a pediatric patient.

Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male.

Unusual genetic aberrations including a deletion of KLF6 tumor suppressor gene revealed by integrated cytogenetic approaches in a pediatric ewing sarcoma.

Ewing sarcoma is the third most common sarcoma in children and young adults. Its characteristic chromosomal rearrangement results in a chimerical EWSR1-ETS transcription factor. Secondary genetic alterations are very common.

Clonal trisomy 4 cells detected in the ossifying renal tumor of infancy: study of 3 cases.

The ossifying renal tumor of infancy is a rare neoplasm diagnosed in the first 2 years of life, predominantly in boys. The neoplasm is primarily characterized by the presence of a large ossifying component. Its most common mode of presentation is hematuria, and it has a uniformly benign behavior.

Chemotherapy-related leiomyopathy: a suggested morphological explanation for the intestinal dysmotility affecting patients treated with anthracyclines.

Anthracycline, used in oncological chemotherapy, has one well-known side effect: cardiotoxicity. Another is abnormal intestinal motility such as constipation and ileus, the pathogenesis of which, to our knowledge, has not been morphologically investigated. We conducted a study in search of morphological evidence that might shed some light on the pathogenesis of the motility dysfunction.

Cerebellar gliomatosis in a toddler: case report of a challenging condition and review of the literature.

Gliomatosis confined to the cerebellum is most unusual. We report such a case in a 20-month-old male who presented with unsteadiness. Magnetic resonance imaging revealed a diffuse area of abnormal signal intensity within both cerebellar hemispheres, which did not enhance after contrast administration.

FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma.

Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion.

Infantile melanoma--a triple threat: diagnosis and management.

Cases of infantile melanoma are very rare, and only a few have been presented in the literature. Pediatric melanoma can present to the clinician as a "triple threat" of delayed diagnosis resulting in thick lesions at risk for metastasis, histologic uncertainty of diagnosis, and a lack of data guiding regional node management and adjuvant therapy. Melanoma in childhood is an uncommon condition, and it is even more atypical in infants.

Hyperdiploidy with trisomy 9 and deletion of the CDKN2A locus in T-cell acute lymphoblastic leukemia.

We describe the rare finding of a T-cell acute lymphoblastic leukemia (T-ALL) and a pretreatment bone marrow karyotype mosaic for four distinct cell lines in a 4-year-old boy. G-banding analysis of metaphase cells identified a hyperdiploid cell line (52 chromosomes) trisomic for chromosomes 6, 9, 11, 13, 19, and 22. Fluorescence in situ hybridization (FISH) analysis demonstrated that these hyperdiploid cells were missing all three copies of the CDKN2A locus (alias p16/Ink4) at 9p21.

Glioneuronal phenotype in a diencephalic pilomyxoid astrocytoma.

We report the presence of divergent populations of cells in a hypothalamic/chiasmatic pilomyxoid astrocytoma of an 11-month-old male, exhibiting differential immunohistochemical localizations for glial fibrillary acidic protein (GFAP) and synaptophysin. The tumor cells were negative for Neu-N and neurofilament protein. Ultrastructurally, the tumor comprised 2 cell types, one with features attributable to a neuronal phenotype alongside cells exhibiting an overt astroglial phenotype.

Androgen and c-Kit receptors in desmoplastic small round cell tumors resistant to chemotherapy: novel targets for therapy.

Purpose: Desmoplastic small round cell tumor (DSRCT) is a highly fatal, mainly peritoneal cell origin cancer which predominantly affects young adult males. This predilection in young males led us to examine the role of androgen receptors (AR), testosterone, and growth factors in the biology of DSRCT.

Methods: Slides were prepared from 27 multi-institutional patients all with end-stage DSRCT.

Down syndrome with low hypodiploidy in precursor B-cell acute lymphoblastic leukemia.

We describe the rare finding of a 33-month-old child neonatally diagnosed with Down syndrome, who presented with pre-B acute lymphoblastic leukemia (ALL) with a pretreatment bone marrow karyotype in which a low hypodiploid cell line (38 chromosomes) was identified in 17/19 cells studied. The abnormal cell line retained the extra constitutional chromosome 21. Hypodiploidy (loss of one or more chromosomes) is seen in approximately 5% of all childhood pre-B ALL cases and in approximately 2.

Malignant peripheral nerve sheath tumor arising from an adrenal ganglioneuroma in a 6-year-old boy.

This report describes the youngest patient to develop a malignant peripheral nerve sheath tumor arising from a ganglioneuroma (MPNST ex Ganglioneuroma). The patient, a 6-year-old boy, was never irradiated and had no history or stigmata of neurofibromatosis. The report also includes a review of the previously published related cases, and an analysis of the immunohistochemistry and electron microscopy data available to date on the subject.