Transient local response and persistent tumor control in a child with recurrent malignant glioma: treatment with combination therapy including dendritic cell therapy. Case report.

Treatment of malignant glioma is difficult and discouraging. Even after resection and maximal adjuvant therapy, the prognosis remains poor. The authors sought a novel form of treatment, such as stimulating the patient's own immune response against the tumor, and developed a protocol of tumor vaccination in which autologous dendritic cells (DCs) were used in patients with recurrent malignant glioma.

Changing concepts in the pathological basis of soft tissue and bone sarcoma treatment.

Though soft tissue sarcomas are rare considerable progress has been made in the clinical and biological understanding of these neoplasms. This has led to the launch of a new WHO classification of soft tissue tumours in 2002, which integrate morphological data with tumour specific (cyto-) genetics. Moreover worldwide consensus has grown how to predict clinical behaviour based on a specific grading system and which specific types of tumours seem not to obey these rules.

Differential expression of KIT/PDGFRA mutant isoforms in epithelioid and mixed variants of gastrointestinal stromal tumors depends predominantly on the tumor site.

Gastrointestinal stromal tumors (GISTs) form a distinctive group of mesenchymal neoplasms, showing differentiation towards the interstitial cells of Cajal. Morphologically, GISTs vary from cellular spindle cell tumors to epithelioid or mixed, epithelioid and spindle cell variants. The genotypic features underlying the morphologic differences of GISTs with vs without epithelioid components are not well defined.

Ischiogluteal bursitis: an uncommon type of bursitis.

Ischiogluteal bursitis is a rare, infrequently recognized soft tissue mass of the buttock region. Of importance is the radiological differential diagnosis with other benign and malignant soft-tissue tumors. We describe the imaging findings of bursitis.

Benign renal mesenchymoma in the pediatric age group: a novel pathologic and karyotype entity.

Benign mesenchymal renal tumors are extremely rare in the pediatric age group. We report a case of a benign renal tumor composed of smooth muscle cells, adipose tissue, and areas of cartilaginous differentiation and expressing a 46,XX, t(8;10)(q21;q24) karyotype in a 13-year-old girl. Although some pediatric renal tumors show a degree of heterologous differentiation, none of them exclusively consist of these three well-differentiated mesenchymal components.

Chondroid lipoma of the trunk: MRI appearance and pathologic correlation.

Chondroid lipoma is a rare tumour of adipose tissue, bearing a strikingly close pathologic resemblance to myxoid liposarcoma and extraskeletal myxoid chondrosarcoma. Unlike these malignant tumours, chondroid lipoma has a non-aggressive behaviour and does not require radical treatment. Although repeatedly reported in the proximal extremities and limb girdles, this rare entity may less frequently be observed in the trunk.

Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12).

Activation of the GLI oncogene is an important step in the sonic hedgehog signaling pathway, and leads to, eg, tissue-specific cell proliferation during embryogenesis. GLI activity in adult tissues is restricted, but has been identified in various neoplasms, as a result of mutations in the PTCH (patched) or SMOH (smoothened) genes, encoding components of the sonic hedgehog pathway, or by amplification of GLI. Herein, we present a new mechanism of GLI activation through fusion with the beta-actin gene (ACTB) in five histologically distinctive soft tissue tumors showing a t(7;12)(p21-22;q13-15) and a pericytic phenotype.

Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity.

Gastrointestinal stromal tumours (GISTs) are currently defined as mesenchymal tumours of the gastrointestinal tract that express KIT receptor tyrosine kinase. However, a small subgroup of tumours that fulfil the clinical and morphological criteria for GISTs lack KIT expression. So far, the biological features of these tumours have rarely been addressed.

Molecular analysis of the INK4A/INK4A-ARF gene locus in conventional (central) chondrosarcomas and enchondromas: indication of an important gene for tumour progression.

Loss of heterozygosity (LOH) at chromosomal band 9p21 is one of the few consistent genetic aberrations found in conventional chondrosarcoma. This locus harbours two cell-cycle regulators, CDKN2A/p16/INK4A and INK4A-p14ARF, which are inactivated in various human malignancies. It was therefore hypothesized that this locus also plays a role in the development of chondrosarcoma and this locus was investigated at protein, genetic, and epigenetic levels.

10q25.3 (DMBT1) copy number changes in astrocytoma grades II and IV.

In the literature, it has been suggested that loss of the 10q25-26 region, including the DMBT1 gene (10q25.3), is correlated with initiation and/or malignant progression of astrocytomas, although the results of the studies on the loss of heterozygosity that led to this assumption are not unequivocal. For this reason, using double-target fluorescence in situ hybridization, we compared copy number changes of 10q25.

MAPK phosphatase DUSP16/MKP-7, a candidate tumor suppressor for chromosome region 12p12-13, reduces BCR-ABL-induced transformation.

Recurrent chromosome 12p deletions are associated with distinct tumor types and suggest the presence of a tumor suppressor gene (TSG). Previously, we mapped an EST with similarity to a protein tyrosine phosphatase to the minimally deleted region for all these neoplasms. The corresponding gene, DUSP16/MKP-7, was recently shown to code for a mitogen-activated protein kinase phosphatase, suggestive for a function as tumor suppressor.

Complex genomic rearrangement of ALK loci associated with integrated human Epstein-Barr virus in a post-transplant myogenic liver tumor.

Epstein-Barr virus (EBV) is a ubiquitous viral agent, well known to be associated with lymphoid, epithelial, and smooth-muscle malignancies in immunocompromised individuals. This report describes a 10-year-old patient with an EBV-related liver tumor occurring after kidney transplantation. The neoplasm presented a phenotypic spectrum, ranging from a smooth-muscle tumor to an inflammatory pseudotumor (IPT).

Acquired cerebellar cavernous angioma following childhood radiotherapy in a patient with neurofibromatosis type 1.

We report the unusual case of a patient with neurofibromatosis type I, who was irradiated 16 years previously for a mesencephalic glioma causing hydrocephalus, and who developed a cerebellar haemorrhage caused by a histologically confirmed cavernous angioma, that was invisible on several earlier MRI scans. The different hypotheses concerning the de novo formation of cavernous angiomas (venous obstructive disease and genetic abnormalities) are succinctly reviewed.

Segmental spinal cord hypoplasia and meningocele with preservation of medullary function: case report.

Background: In very rare dysraphic cases, it is not clear whether the primary abnormalities are in the neural elements, or in the bony elements.

Case Description: We describe a case of segmental hypoplasia of the spinal cord, with absent nerve roots in the afflicted segments, and associated meningocele and vertebral abnormalities. We illustrate the arguments for and against the classification of this lesion either as an atypical case of myelomeningocele (MMC) or as a mild case of segmental spinal dysgenesis (SSD).

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors.

Malignant peripheral nerve sheath tumors (MPNST) are rare soft-tissue malignancies. The genetic basis of these tumors is still poorly understood. Cytogenetic analyses predominantly revealed complex karyotypes, precluding the identification of recurrent chromosomal changes.

Imaging features of multifocal primary rhabdoid tumour of the central nervous system with meningeal and spinal metastases.

We present a 1-year-old boy with histologically proven multifocal rhabdoid tumour of the brain with meningeal and spinal metastasis. Although very rare and without specific radiological features, the possibility of rhabdoid tumour should be kept in mind when imaging paediatric intracranial and spinal neoplasms.

Angiomatosis in the neck and mediastinum: an example of low-flow vascular malformations.

A rare case of multiple low-flow vascular malformations in the larynx, neck and mediastinum - reported as angiomatosis in the literature - is described. Sonography, CT, angiography and MRI were performed in our case, followed by laryngoscopy with biopsies to establish the diagnosis. The radiological features and a review of relevant literature are briefly discussed.

Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.

Sanfilippo A syndrome, mucopolysaccharidosis type IIIA, is caused by a deficiency of heparan sulphamidase activity, and usually presents in childhood with neurodegeneration leading to death in teenage years. Visceral symptoms are limited to coarsening and diarrhea. We now describe an adult patient who presented with cardiomyopathy.

Lipoblastoma in a 23-year-old male: distinction from atypical lipomatous tumor using cytogenetic and fluorescence in-situ hybridization analysis.

Lipoblastoma is a rare benign tumor that occurs primarily in infancy and early childhood. We present the rare presentation of a 12 cm sized intramuscular lipoblastoma of the thigh in a 23-year-old patient. On histology, the tumor strongly resembled an atypical lipomatous tumor due to the presence of lipoblasts and atypical stromal nuclei.

Accuracy of diffusion-weighted MR imaging in the diagnosis of sporadic Creutzfeldt-Jakob disease.

The definitive diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is based on brain autopsy. The 14-3-3 analysis in the CSF is considered a highly sensitive and specific procedure. Sensitivity, specificity and accuracy of EEG, the 14-3-3 assay and MR imaging in 12 patients referred for suspected sCJD were calculated.

Spindle-cell rhabdomyosarcoma with 2q36 approximately q37 involvement.

The cytogenetic analysis of a spindle-cell variant of embryonal rhabdomyosarcoma (RMS), presenting as a cheek mass in an 18-year-old girl, is reported. The tumor cells showed an abnormal karyotype 46,XX,der(2)t(2;7)(q36 approximately q37;q3?),del(14)(q24),der(16)t(1;16)(q21;q13), with a tetraploid range of chromosome number in a subpopulation of cells. By fluorescence in situ hybridization analysis, the tumor cells were negative for FKHR-disrupting translocations specific for alveolar type of RMS and for NMYC gene amplification.

Update of phase I study of imatinib (STI571) in advanced soft tissue sarcomas and gastrointestinal stromal tumors: a report of the EORTC Soft Tissue and Bone Sarcoma Group.

In a phase I study conducted by the EORTC Soft Tissue and Bone Sarcoma Group, 40 patients with advanced soft tissue sarcomas, most of whom had gastrointestinal stromal tumors (GISTs), received imatinib at doses of 400 mg q.d., 300 mg b.

Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors.

Deletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low-malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, 15 spindle cell/pleomorphic lipomas, 2 myxolipomas, 1 angiomyxolipoma and 9 atypical lipomatous tumors) with chromosome 13-abnormalities, and found bands 13q12-22 to be frequently affected. Twenty-seven cases with structural abnormalities within this region were selected for breakpoint and deletion mapping by metaphase fluorescence in situ hybridization (FISH), using a set of 20 probes.

PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21).

The reappraisal of genetically defined subsets of renal tumors can help to highlight the key pathologic features of specific neoplastic entities. We report the morphologic, immunophenotypic, ultrastructural, and molecular features of 11 renal carcinomas bearing a t(X;1)(p11.2;q21) and/or the resulting PRCC-TFE3 gene fusion.