Biomedical subjects

D Figarella-Branger

Publications and source records attributed to D Figarella-Branger.

At least 109 records · Page 6Linked to original sources

PubMed1998

[Meningeal hemangiopericytomas. A retrospective reciew of 20 cases].

BACKGROUND AND PURPOSE: Meningeal hemangiopericytomas (MHP) account for 2% of meningeal tumours. Clinical features, radiology findings, therapy and outcome of 20 MHP operated in our department from 1965 through 1995 were analyzed to determine presurgical features for diagnosis, histologic diagnostic criteria and the role of adjuvant post-operative radiotherapy. METHODS: In conformity with the new WHO classification which differentiates MHP from meningiomas, 20 patients with tumors compatible with this definition were reviewed. RESULTS: The clinical features differed slightly from meningiomas. Only epidemiologic data were different. The CT and MRI scanning gave no preoperative distinction between MHP and meningiomas. Angiography played a predominant role in this distinction. The 20 patients were operated. Twelve received post-operative radiotherapy. The rate of local recurrency was 45%. Of these, 88% did not receive radiotherapy post-operatively. Two patients (10%) presented late recurrence and three patients (15%) one or more extra-neural metastases. Two patients received radiosurgical treatment. In one case with disseminated metastasis, chemotherapy was used without success. Three patients died during the follow up. CONCLUSION: Considering our review and the current literature, it seems that complete excision followed by adjuvant radiotherapy of more than 50 Gy significatively reduces the risk of recurrence (p < 0.0001). Radiosurgery is indicated for recurrent tumors measuring less than 30 mm in their greatest diameter.

Adolescent↗

PubMed1998

[Polysialylated NCAM in CSF, a marker for invasive medulloblastoma].

We described a double-site enzyme-linked immunosorbent assay (ELISA) to measure polysialic acid neural cell adhesion molecule (PSA-NCAM) level in CSF. Immunocapture of PSA-bearing molecules is first effected by means of a monoclonal antibody (anti-MenB), directed against sialic acid polymers and adsorbed into plastic wells. Linked PSA-NCAM is then revealed by means of a second antibody, directed against an aminoacid sequence of NCAM and labelled with peroxydase. The lowest amount of PSA-NCAM detectable was estimated to be 0.11 microgram/l. This value was considered as the threshold for positivity. PSA-NCAM level was measured using this method in CSF from 29 patients with medulloblastoma. CSF had been collected at different times following tumor excision and stored at--80 degrees C. At the same times, cytological examination in CSF (medulloblastoma metastatic cells) and craniospinal imaging (tomographic scan or MRI) had been performed. PSA-NCAM was never detected in control CSF. For patients in remission, beyond the post-operative period of 1 or 2 months, 18 on 21 exhibited a PSA-NCAM level below the threshold value. For refractory patients, so classified according to the positivity of cytology and/or imaging, whatever the time after the tumor excision, PSA-NCAM was always positive (23/23), while either cytology or imaging were positive less frequently (16/23 for both). For relapses, PSA-NCAM was more frequently positive (6/7) than cytology and imaging (1/7 and 5/7, respectively). We concluded that PSA-NCAM positivity in CSF may be a reliable marker to detect the invasive or metastatic feature of medulloblastoma.

Biomarkers, Tumor↗

PubMed1997

Expression of cell adhesion molecules in normal nerves, chronic axonal neuropathies and Schwann cell tumors.

Cell adhesion molecules (CAMs) play a role in the normal development and regeneration of tissues as well as in the biological behaviour of tumors. We studied the immunohistochemical expression of various CAMs, such as neural cell adhesion molecule (NCAM), its polysialylated isoform (PSA-NCAM), epithelial (E-) cadherin, and beta1 integrins (alpha2beta1, alpha5beta1, alpha6beta1) in a series of frozen specimens of 10 normal nerves, 5 axonal neuropathies, 26 benign Schwannomas and 2 malignant peripheral nerve sheath tumors (MNST). NCAM was expressed by non-myelinating Schwann cells from normal nerves and overexpressed by Schwann cells from patients with chronic axonal neuropathies and Schwannomas. The expression was lower in MNST. Expression of PSA-NCAM was heterogeneously displayed by Schwann cells from the various tissues studied. Anti E-cadherin immunoreactivity was present in myelin sheath in normal nerves and axonopathies. It was expressed in some Schwannomas especially in vestibular Schwannomas. Integrins VLA alpha2 and VLA alpha6 were widely expressed by Schwann cells from normal nerves, axonal neuropathies and Schwannomas but their expression was low in MNST. VLA alpha5 was not expressed by Schwann cells from normal nerve and Schwannomas but present in chronic axonal neuropathies and MNST. In addition VLA alpha6 was strongly expressed by perineurial cells. These data show that CAMs have a characteristic pattern of expression in normal nerve. Also, some CAMs are always expressed by Schwann cells but the expression of others differs in normal nerves versus axonopathies or tumors, suggesting a role of the microcellular environment in the regulation of CAM expression. Schwannomas have different pattern of expression than MNST.

Axons↗

PubMed1997

MRI of intracranial chordomas. Extent of tumour and contrast enhancement: criteria for differential diagnosis.

We present six proven cases of chordoma of the clivus studied by CT and MRI, with special attention to the extent of the tumour and to the signal intensity after intravenous gadolinium. MRI is the best technique for assessing the extent of the tumour but CT is important for showing osteolysis. Our aim was to determine differential diagnostic neuroradiological criteria. Reliable signs of chordoma of the skull base are: posterior extension to the pontine cistern; a lobulated, "honeycomb" appearance after gadolinium: the swollen appearance of the bone in the early stages; bone erosion on CT and frequent extension to critical structures such as the circle of Willis, cavernous sinuses and brain stem.

Adult↗

PubMed1997

Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies.

Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they presented exercise intolerance, negative biochemical tests (lipid, glycogen and mitochondrial metabolism) and abnormal immunohistochemistry with at least one anti-dystrophin antibody (anti-Dys 1, rod domain; anti-Dys 2, C terminus; anti-Dys 3, N terminus). Lack of anti-Dys 1 immunoreactivity was seen in three patients and abnormal immunoreactivity with all three anti-dystrophin antibodies in two. Immunoblot confirmed the dystrophinopathy in these five patients only, and multiplex polymerase chain reaction DNA analysis revealed a deletion in the dystrophin gene in two of these patients, affecting the proximal part of the rod domain in one and the distal part of this domain in the other. The clinical, biological and histopathological features of the five patients reported here, together with the previous cases reported in the literature, are described and reveal that exercise intolerance associated with dystrophinopathy displays characteristic clinical, biological and immunohistochemical features and defines a new dystrophinopathy phenotype. The absence of staining in the rod domain provides a secure diagnosis of this syndrome. Dystrophinopathy is one etiology of idiopathic myoglobinuria, requiring genetic counseling.

Adolescent↗

PubMed1997

Translocation 1;19 in two brain tumors.

We report two-cases of brain tumors, one childhood medulloblastoma and one adult glioblastoma with an unusual chromosomal abnormality: a t(1;19)(q23;q13). We analyzed these karyotypes using fluorescence in situ hybridization (FISH) and wonder if this chromosomal aberration could represent a particular entity in these brain tumors like t(1;19) in ALL.

Brain Neoplasms↗

PubMed1997

[Aortic sarcomas with peripheral emboli: apropos of 2 cases].

The authors report two cases of aortic angiosarcomas. These cases were similar and characterized by a typical pejorative clinical course, with peripheric emboli and many osteolytic metastasis. Immunohistochemical study was in favour of an endothelial origin, electronic microscopy indicated a mixed tumor with myofibroblasts and poorly differentiated endothelial cells. Differential diagnosis between angiosarcoma, leiomyosarcoma and intimal sarcoma are reviewed.

Aged↗

PubMed1997

Developmental gene expression of trypsinogen and lipase in human fetal pancreas.

BACKGROUND: Very few studies have been reported on the expression of human pancreatic genes during fetal development. We have shown very low lipase immunoreactivity compared with elevated trypsinogen immunoreactivity in a previous immunohistological study of human fetal pancreas during development. METHODS: The expression of these two selectively expressed genes of the exocrine pancreas, trypsinogen and lipase were investigated. The developmental profiles of the corresponding mRNA's were determined from the 13th gestational week. RESULTS: For the two genes, fetal mRNA levels throughout gestation remained significantly lower than the corresponding adult levels. No correlation was found between trypsinogen and lipase gene expression in the fetal pancreas, whereas such a correlation was present in adult pancreas. This may be explained by differences in maturity of the pancreas.

Adult↗

PubMed1997

Crohn's disease and gastrocnemius vasculitis: two new cases.

We report two cases of gastrocnemius muscle vasculitis revealing Crohn's disease. Gastrocnemius muscle biopsy evidenced a necrotizing vasculitis resembling panarteritis nodosa in one case; a nonnecrotizing vasculitis was found in the other case. Neither of the patients had systemic vasculitic involvement, and the muscle disease resembled calf muscle-located panarteritis nodosa. Our literature review shows five cases of calf-located myalgia occurring during Crohn's disease characterized by heterogenous histopathological findings including vasculitic and myositic lesions. Thus, faced with calf-located myalgia with vasculitis or myositis, a search for Crohn's disease is probably necessary to determine precisely the frequency and the etiopathogenic mechanisms of this association.

Adult↗

PubMed1997

Cell-adhesion molecules in human meningiomas: correlation with clinical and morphological data.

Integrins form a family of cell adhesion molecules. CD44 glycoproteins are found in a wide variety of isoforms; the most common, CD44s (standard) is widely distributed, and functions as an adhesion molecule. In this study, we have investigated immunohistochemically the distribution of some VLA integrins (alpha2, alpha5 and alpha6 chains of beta1 integrins) and CD44s in 44 meningioma specimens and normal arachnoid villi. Meningiomas were of meningothelial (16), transitional (13) and fibroblastic (15) subtypes. There were 13 grade I, 19 grade II and 12 grade III (27%). Immunoprecipitates were quantified by image analysis and correlated with clinical (age, sex, location) and morphological data (histological subtypes and grades). VLA alpha5 chain was expressed by normal arachnoid villi (mainly cap cells) and by 42 out of 44 meningioma specimens. Expression was lower in fibroblastic meningiomas (P=0.02). VLA alpha2 and alpha6 chains were not observed in normal arachnoid villi. VLA alpha2 was expressed by 15 meningiomas, VLA alpha6 by 10. Interestingly, meningiomas expressing either VLA alpha2 or alpha6 were usually of grade III (P< or =(0.05). CD44s was found on various parts of arachnoid villi and in all meningiomas although expression was higher in meningothelial and transitional than in fibroblastic (P< or =0.001). These results show that VLA alpha5 and CD44s are widely expressed by arachnoid villi and meningiomas, in contrast to VLA alpha2 and VLA alpha6. It was noted that high grade meningiomas (III) express VLA alpha2 and alpha6 suggesting that changes in integrin pattern expression are a feature of these meningiomas. Moreover, strong CD44s expression characterizes meningothelial and transitional meningiomas. Previous studies have shown that high NCAM expression is a feature of fibroblastic meningiomas whereas meningothelial and transitional meningiomas expressed mainly E-Cadherin, and that polysialylated NCAM expression was restricted to high grade meningiomas. Taken together these features suggest that each cell adhesion molecule has a characteristic pattern of expression according to meningioma subtype and grade. No correlation was seen between integrins and CD44s expression and clinical data.

Adolescent↗

PubMed1997

[Acoustico-facial cavernomas. Apropos of 2 surgically treated cases].

BACKGROUND: Acousticofacial cavernomas are rare lesions. Only 4 cases with a cerebellopontine extension have been reported previously whereas intrapetrous facial nerve cavernomas are well described in the otologic literature. In this paper, we describe two additional cases of acousticofacial cavernomas. METHOD AND RESULTS: The two patients were operated via a translabyrinthine route with a preoperative diagnosis of vestibular schwannoma. In the first case, the lesion was confined in the internal auditory canal whereas the cavernoma extended into the cerebellopontine angle in the latter. CONCLUSIONS: Diagnosis is suspected when facial nerve deficit strikingly reveals a small cerebellopontine angle lesion. MRI examination is not specific enough when the lesion is confined to the internal auditory canal. Treatment is based upon surgical removal although facial nerve impairment is often described as the main cause of postoperative morbidity.

Adult↗

PubMed1996

The contribution of cytogenetics to the histogenesis of meningeal hemangiopericytoma.

Some controversy has existed regarding the nosology of meningeal hemangiopericytoma. In the WHO's classification of 1979 these tumours were included as a subgroup of meningiomas, but for some authors, they should not be classified as meningiomas. Cytogenetic studies on meningioma demonstrate monosomy or partial deletion of chromosome 22 in 60% of these tumors. There have been few cytogenetic studies about meningeal hemangiopericytoma. We present here the results of cytogenetic studies and fluorescence in situ hybridization in six cases of meningeal hemangiopericytoma. In these tumours we have never found monosomy 22, but all six cases were hyperdiploid. These cytogenetic data might provide additional evidence to differenciate the meningeal hemangiopericytoma from the meningioma.

Adolescent↗

PubMed1996

Cauda equina paraganglioma with subsequent intracranial and intraspinal metastases.

A case of cauda equina paraganglioma is described; subsequent intracranial and intraspinal metastases occurred after partial resection and adjunctive radiotherapy. Cerebrospinal fluid dissemination is a rare complication of spinal paragangliomas. Factors predictive of this unusual biological behaviour are discussed.

Biomarkers, Tumor↗

PubMed1996

CD24, a glycosylphosphatidylinositol-anchored molecules is transiently expressed during the development of human central nervous system and is a marker of human neural cell lineage tumors.

CD24 is a glycoprotein with an unusual structure consisting of a small protein core extensively glycosylated and linked to the outer surface of the plasma membrane by a glycosylphosphatidylinositol (GPI) lipid anchor. Its murine homolog mCD24 is transiently expressed during the development and differentiation of the hematopoietic and neural cell lineages. We have searched for the expression of CD24 in the developing and in the mature human brain as well as in a wide range of neuroectodermal tumors. Neuroblastomas, a subgroup of tumors able to maturate from undifferentiated features towards mature ganglioneuromas, were more extensively studied. Immunohistochemical studies demonstrated that CD24 is transiently expressed by neurons during human brain development. In neuroectodermal tumors, CD24 is a marker of neuronal tumors. Furthermore, in neuroblastomas, CD24 expression decreases as tumors differentiate. In non-neuronal neuroectodermal tumors, CD24 expression is mostly absent. When present, it correlates with the emergence of anaplastic histological features. Reverse transcriptase -polymerase chain reaction (RT-PCR) demonstrated the presence of an unique transcript identical in both hematopoietic, developing and tumoral nervous tissue. RT-PCR and in situ hydridization techniques showed that CD24 expression is transcriptionally regulated. Interestingly, Western blot analysis demonstrated differential CD24 isoforms according to the tissue (hematopoietic versus nervous), the differentiation status, and the origin of neuroblastomas likely reflecting variations in the extent of glycosylation. This indicates an additional level of regulation of CD24 involving post-translational modifications.

Adult↗

PubMed1996

Familial desmin myopathies and cytoplasmic body myopathies.

Clinicopathological, immunohistochemical and biochemical studies were performed on seven patients from five families showing an abnormal accumulation of desmin in the muscle fibers. Late onset myopathy was observed in all the cases studied. The clinical features were heterogeneous and usually nonspecific. However, some patients presented with dysphonia, dysphagia or cardiomyopathy. These features are highly suggestive of desmin myopathy. Using electron microscopy, desmin myopathy is characterized by an accumulation of granulofilamentous material. Depending on the distribution of the material, however, three different patterns of desmin accumulation can be observed: (1) large circumscribed inclusions, (2) intermyofibrillar areas of diffusely distributed material, and (3) deposits around large spheroid bodies. The second pattern is characterized by a rubbed-out appearance using oxidative enzyme reactions. For all the patients studied here, the immunohistochemical data showed that the desmin accumulation fitted these three patterns of distribution. For six patients, immunoblot analysis confirmed the desmin accumulation patterns and showed that an increase in the expression of the 53-kDa protein had occurred. The third pattern of desmin accumulation confirms the pathological heterogeneity of cytoplasmic and spheroid bodies. Desmin does not accumulate in all cytoplasmic and spheroid body myopathies, as observed in two other familial cases presented here.

Adult↗

PubMed1996

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

Construction of animal models of human inherited diseases is particularly important for testing gene therapy approaches. Towards this end, we constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear injection of a YAC containing the human PMP22 gene. In one transgenic line, the YAC DNA is integrated in about eight copies and the PMP22 gene is strongly expressed to give a peripheral neuropathy closely resembling the human pathology. The disorder is dominant, causes progressive weakness of the hind legs, and there is severe demyelination in the peripheral nervous system including the presence of onion bulb formations. This approach will be valuable for pathologies produced by over-expression of a gene including trisomy and amplification in cancer. Such models will be particularly useful for testing gene therapy approaches if the transgene is human.

Animals↗

PubMed1996

Pineal region tumors and the role of stereotactic biopsy: review of the mortality, morbidity, and diagnostic rates in 370 cases.

OBJECTIVE: It is classically considered that the morbidity and mortality rates are greater for stereotactic biopsies of pineal region tumors, compared with tumors in other regions. However, to date, the number of cases studied in the literature has been insufficient to evaluate these parameters and compare them with the morbidity and mortality rates for stereotactic biopsies of tumors located elsewhere. METHODS: With the aim of evaluating these parameters, we reviewed 370 stereotactic biopsies of pineal region tumors, from 15 French neurosurgical centers. We statistically verified the absence of heterogeneity of the different French centers with regard to diagnostic, mortality, and morbidity rates. In contrast, statistical heterogeneity was clearly seen for the large stereotactic biopsy series (for all tumor locations) in the literature. RESULTS: The mortality rate was 1.3% (5 patients of 370), and 3 patients suffered severe neurological complications. This study is the first to clearly demonstrate that the mortality, morbidity, and diagnostic rates for stereotactic biopsies are not different in the pineal region. CONCLUSION: Our conclusion is that stereotactic biopsy must remain a main diagnostic modality for tumors of the pineal region.

Adolescent↗

PubMed1996

Acquired multifocal myofibrillar disruption selective of type II fibres.

We report three cases of patients who complained of myalgia showing histological features similar to tubular aggregates in their muscle biopsies. All had an elevated erythrocyte sedimentation rate without any evidence of infectious or autoimmune disease. On electron microscopy, small areas of myofibrillar degeneration, selectively in type II fibres, were found in all patients, but no tubular aggregates were seen. Although the pathogenesis of these lesions is unclear, it does seem that this condition is acquired and transient.

Adult↗