RESUMEN

Pineoblastoma is a rare, but highly malignant tumor of the central nervous system (CNS) in children and is classified as a central primitive neuroectodermal tumor (PNET). Despite notable recent advances in understanding the molecular genetic basis of malignancies, the pathogenesis of PNETs remains enigmatic. There is scant information on the cytogenetics of PNETs arising in the pineal gland and the only three reported cases did not show any common aberrations. Here we report the establishment and characterization of a new pineoblastoma cell line, PER-480. The biopsy material and the cell line were characterized using light and electron microscopy and immunohistochemical analyses. The cell line was examined for expression of cell surface markers using a panel of monoclonal antibodies and by cytogenetic analysis. MYC family genes were studied at the DNA, RNA, and protein level. Cell line PER-480 showed neuronal differentiation and the karyotype demonstrated two abnormalities, a der(10)t(10;17) and a der(16)t(1;16). An intriguing finding is that all three pineoblastoma cell lines established in our laboratory, PER-452, PER-453, and PER-480, showed enhanced expression but not amplification of a member of the MYC family of proto-oncogenes. Cell line PER-480 reported here will be useful for the further investigation of the molecular genetic basis of central PNETs.

Asunto(s)

RESUMEN

OBJECTIVE: To define the earliest age at which histological changes can be used to diagnose oesophagitis and to determine the relationships between clinical, endoscopic and histological features of oesophagitis in infants. METHODOLOGY: The case records and biopsies of 113 infants aged 2-18 months with clinically significant gastro-oesophageal reflux (GOR), undergoing oesophagoscopy between 1978 and 1994 were retrospectively reviewed. The biopsies were independently evaluated and graded by two pathologists. RESULTS: Forty-five cases (40%) had histological oesophagitis but only 16 (14%) had abnormal endoscopic findings (excluding erythema). Endoscopy was found to be highly specific (93%) for histological oesophagitis but lacked sensitivity (25%). Irritability was inversely related to the presence of endoscopic abnormalities, and there was poor correlation between symptoms and histological changes with only haematemesis showing a statistically significant association with histological abnormalities (P = 0.033). Intraepithelial lymphocytes were the earliest of the histological features noted and were present before 4 months of age. The numbers of intraepithelial eosinophils and lymphocytes and the presence of papillary elongation all increased with age. CONCLUSIONS: The presence of oesophagitis is difficult to predict on the basis of symptoms. The presence of intraepithelial lymphocytes is the earliest histological change to be seen in infants with GOR, and can develop before 4 months of age. Oesophagoscopy without biopsy is unreliable in the diagnosis of oesophagitis in infants.

Asunto(s)

RESUMEN

We have established two cell lines, PER-452 and PER-453, from an 8-month-old girl with an extensive pineoblastoma. Characterization of these lines revealed that the proto-oncogenes MYC and MYCN were not amplified, but both cell lines showed MYCN expression comparable to a cell line with 200-fold MYCN amplification. Both cell lines contained an i(17q). These results support the concept that pineoblastomas belong to a larger group of primitive neuroectodermal tumors of the central nervous system. These two cell lines provide a unique opportunity to investigate the molecular genetic mechanisms underlying these neoplasms further.

Asunto(s)

RESUMEN

We present a case of rhizomelic dwarfism with clinical, radiographic and histologic features in keeping with atelosteogenesis type III (spondylohumerofemoral hypoplasia). Unlike most other skeletal chondrodysplasias presenting with neonatal dwarfism, a proportion of patients with atelosteogenesis type III may survive well beyond the neonatal period, and hence early identification of the condition is important. Our surviving patient further defines the radiographic features of the condition and the natural history and prognosis for physical and intellectual disability.

Asunto(s)

RESUMEN

Hereditary gingival fibromatosis is characterized by varying degrees of attached gingival hyperplasia and may in rare cases present as a feature of a generalized syndrome. It is usually inherited as an autosomal dominant condition though recessive forms are described. The dental and genetic features of an affected brother and sister with a probably unique autosomal recessive hereditary fibromatosis syndrome are presented.

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

We report the neuropathological findings of a 3-year-old boy with Angelman's syndrome. The main abnormalities were macroscopic consisting of small temporal and frontal lobes which also showed disorganised and irregular gyri. The occipital lobes appeared flattened but were otherwise normal as were the parietal lobes. The brain stem and cerebellum appeared normal externally. Microscopically there was irregular distribution of neurons in layer 3 and in the cerebral white matter a few subcortical ectopic neurons were present in the temporal and frontal lobes. A single "Purkinje" cell heterotopia was seen but otherwise the cerebellum appeared normal.

Asunto(s)

Asunto(s)

RESUMEN

The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.

Asunto(s)

Asunto(s)

RESUMEN

A recent paper has again drawn attention to the occurrence of intraplacental choriocarcinoma. We present a similar case in which a small intraplacental choriocarcinoma was identified after delivery of a full-term stillborn fetus. Interpretation of this lesion was influenced by the presence of normal villi and its full significance appreciated only after diagnosis of choriocarcinoma in the mother. This case presents histological proof that choriocarcinoma may arise from an otherwise normal placenta.

Asunto(s)

RESUMEN

Five young children (mean age 26.4 months) with angiolymphoid hyperplasia with eosinophilia (Kimura's disease) from either the upper arm or buttock were identified over 18 months. The unusual distribution of the lesions and the young age of the patients suggested a possible association with immunisation. The clinical and histopathological features in these cases were accordingly reviewed. The biopsy specimens showed the usual histological appearances of a prominent inflammatory component, fibrosis, and vascular proliferation associated with aggregates of eosinophils. The features were those of a reactive rather than neoplastic process. Immunohistochemical preparations showed positive staining of variable numbers of plasma cells with antibodies to IgG, IgM, IgA and IgE and a reticular staining of germinal centres with IgM and IgE antibodies. Immunisation histories obtained from the patients' general practitioners showed a remarkable correlation between the distribution of the lesions and the sites of injections and an aetiological role for immunisation in these cases seems likely.

Asunto(s)