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M Brisigotti

Publications and source records attributed to M Brisigotti.

At least 37 records · Page 2Linked to original sources
PubMed1993

High-dose chemotherapy with autologous bone marrow rescue in advanced stage IV neuroblastoma.

In order to better evaluate the role of bone marrow purging procedures in the treatment of stage IV neuroblastoma, two similar groups of patients, prospectively treated during the same period at Léon Bérard Center, Lyon, France, and at Giannina Gaslini Institute, Genova, Italy, were reviewed. 18 children were treated in Lyon with a protocol including induction chemotherapy, surgery and a single course of high-dose chemotherapy followed by purged autologous bone marrow rescue. 21 patients were treated in Genoa with a very similar protocol which did not include purging procedures. Progression-free survival at 6 years was 12% (95% confidence interval 0-24%), without any difference between the two series of patients. The only prognostic factor for long-term survival was the persistence (or not) of bone lesions and the presence of metastatic disease (bone or bone marrow) at graft. The small numbers in the two groups and the very poor outcome make it difficult to conclude on the efficacy of purging.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1992

Disseminated neuroblastoma (stage IV and IV-S) in the first year of life. Outcome related to age and stage. Italian Cooperative Group on Neuroblastoma.

BACKGROUND: Infants (age 0-11 months) with disseminated neuroblastoma are known to have a better prognosis than older children with the disease, but there is little information regarding factors that influence the outcome of the disease in these patients. METHODS: The authors report a series of 110 infants with disseminated neuroblastoma with disease diagnosed between March 1976 and February 1991 in 21 institutions participating in the Italian Cooperative Group on Neuroblastoma (ICGNB). Of the 110 infants, 34 had Stage IV disease, and 76 had Stage IV-S disease. RESULTS: The 5-year survival probability was 77% for all patients, 71% for those with Stage IV disease, and 81% for those with Stage IV-S disease. Of the 34 infants with Stage IV disease, the 9 who were 5 months or younger at the time of disease diagnosis are all alive (1 with active disease) at 7-143 months after diagnosis, whereas of the 25 infants who were 6-11 months of age at the time of disease diagnosis, 10 have died. Of the 76 infants with Stage IV-S disease, 12/64 who were 5 months of age or younger at the time of disease diagnosis died (mostly of massive hepatomegaly); 9 of these deaths occurred in infants with disease diagnosed before they were 2 months old, whereas 1 death occurred in the 12 infants with disease diagnosed when they were 6-11 months old. Four infants with Stage IV-S disease achieved complete disease remission and subsequently had relapse of disease. High levels of serum LDH and low urinary excretion of vanillylmandelic acid were associated with worse prognosis. CONCLUSIONS: The authors suggest that infants older than 6 months of age who have Stage IV disease require aggressive therapy. For infants with disease diagnosed before they are 2 months old, Stage IV-S disease may have a worse prognosis than Stage IV disease.

Age Factors↗
PubMed1992

Expression of histone H3 cell cycle-related gene, vimentin and MYC genes in pediatric brain tumors. A preliminary analysis showing the different malignant cell growth potential.

Eleven pediatric brain tumors were studied for the histone H3, Vimentin and MYC gene expression. H3, an S phase cell cycle-related gene (ccr), was found prevalently expressed in tumors with a high mitotic index (MI). Vimentin gene, which contributes to maintaining the cell structure but is also demonstrated to be an early responder gene to growth stimulation was found variously expressed. The different expression of Vimentin gene in the examined samples suggests the active proliferation of the tumor cells. Analysis of MYC gene expression was found increased only in a mesenchymal chondrosarcoma while in other samples MYC mRNA was undetectable. Medulloblastoma, chondrosarcoma, and choroid plexus carcinoma have high S phase H3 gene expression associated with a high MI. Differently an astrocytoma shows a low MI associated with high H3 gene expression. This first preliminary report of H3, Vimentin and MYC gene expression in brain tumors demonstrates that malignant cells are characterized by a different gene expression and different growth potentials.

Adolescent↗
PubMed1992

Thymoma in childhood: a clinicopathological study of five cases.

The histological and clinical findings in five cases of thymoma arising in paediatric patients have been studied. The age range was 11-15 years and no patient was affected by myasthenia gravis. All tumours were macroscopically encapsulated, but two of them displayed evidence of microscopic capsular invasion. Histologically, four cases were of the predominantly cortical type (organoid thymoma) with prominent areas of medullary differentiation and Hassall's bodies; one case was of the cortical type. All patients are alive and disease-free 3 months to 9 years after surgery. These findings suggest that thymoma in the paediatric age group may be characterized by fairly uniform clinicopathological features, with a low rate of association with myasthenia gravis and a favourable prognosis.

Adolescent↗
PubMed1992

Hepatic endoplasmic reticulum storage diseases.

Endoplasmic Reticulum Storage Diseases (ERSD) represent a novel group of inborn errors of metabolism affecting secretory proteins and resulting in hepatocytic storage and plasma deficiency of the corresponding protein. The hepatocellular storage is due to a molecular abnormality hindering the translocation of the abnormal protein from the rough (RER) to the smooth endoplasmic reticulum (SER). The molecular abnormality is genetically determined; hence it is hereditary, congenital, familial and permanent. The storage is selective and exclusive for the mutant protein and predisposes to the development of chronic cryptogenic liver disease. ERSD include alpha-1-antitrypsin deficiency, fibrinogen storage and alpha-1-antichymotrypsin deficiency. Basically, the diagnosis of ERSD is a morphological one: immunohistochemistry and electron microscopy are essential tools for their identification.

Afibrinogenemia↗
PubMed1992

From immunohistochemistry to in situ hybridization.

The revolutionary evolution in science and technology has made it possible to face adequately three main challenges in modern medicine: old diseases changing, new diseases appearing, diseases remaining unknown. In this paper we review the road travelled by the pathologist in search of a method which is based upon the application to routine work of instruments and techniques which once were available for research only. Application to tissue studies of immunological and molecular biology techniques allows a dynamic interpretation of biological phenomena with special regard to gene regulation and expression. The method implies stepwise investigations, including immunohistochemistry, EM and in situ hybridization, in order to progress from the suggestive features detectable in routinely stained preparations to more characteristic, specific and, finally, pathognomonic features. HE-stained preparations and appropriate immunohistochemical stains enable recognition of phenotypic changes which may reflect genotypic alterations. Thus there is a logical and methodological link between the simple HE and the most powerful techniques so far introduced in pathology: immunohistochemistry and in situ hybridization.

History, 20th Century↗
PubMed1992

Genetic variants of alpha-1-antitrypsin (AAT).

This paper reviews the genetic variants of alpha-1-antitrypsin (AAT) which have been sequenced with special emphasis on the s.c. deficiency variants. These result in AAT low plasma levels via three main mechanisms: 1) intracellular storage; 2) intracellular degradation; 3) lack of synthesis. Intracellular storage occurs with the classical Z variant and with a few variants called M-like, because of their isoelectric focusing (IF) pattern. The storage phenomenon causes liver damage and can be demonstrated at both light and electron microscopic level with the help of immunohistochemistry. We report a new deficiency variant of AAT (M-Cagliari) characterized by very low plasma levels, massive storage of AAT and liver cirrhosis. By using immunohistochemical techniques and DNA analysis we could demonstrate that M-Cagliari has antigenic and genetic properties other than the Z AAT.

Base Sequence↗
PubMed1992

Standard-dose and high-dose peptichemio and cisplatin in children with disseminated poor-risk neuroblastoma: two studies by the Italian Cooperative Group for Neuroblastoma.

PURPOSE: The objective of the present study was to determine whether an increase in the intensity of therapy improves outcome for children with disseminated poor-risk neuroblastoma. PATIENTS AND METHODS: From January 1982 through November 1989, 181 children 1 year or older with newly diagnosed disseminated neuroblastoma were entered onto two consecutive studies of the Italian Cooperative Group for Neuroblastoma (ICGNB): 75 (study NB82) were enrolled from 1982 to 1984 and were treated with standard-dose (SD) chemotherapy, and 106 (study NB85) were enrolled from 1985 to 1989 and received high-dose (HD) chemotherapy. In both treatment protocols, induction therapy included peptichemio and cisplatin (at SD or HD, respectively) and removal of the primary tumor. In study NB82, children who achieved complete or partial tumor regression received SD consolidation therapy, and in study NB85 they received three cycles of HD chemotherapy (3cCT) or one cycle of myeloablative therapy (MAT) followed by autologous bone marrow transplantation (ABMT). RESULTS: Compared with group NB82, the NB85 group had significantly fewer failures (no tumor response or disease progression) after administration of peptichemio (9% v 31%; P < .01), had more complete responses (CRs) and partial responses (PRs) both after treatment with cisplatin (60% v 43%; P = .01) and after surgery (76% v 57%; P < .01), and was more likely to have achieved complete excision of the primary tumor (70% v 46%; P < .01). Overall survival (OS) and progression-free survival (PFS) at 5 years were 11% and 9% in NB82, and 27% and 18% in NB85 (P < .01 for both); however, in NB85, relapses occurred even after 5 years of CR, so that PFS curves converge approximately 7 years after diagnosis. Median survival time was 14 months in NB82 and 24 months in NB85. Children in the NB85 group who after achievement of CR were consolidated with 3cCT had a 5-year PFS of 24% compared with 32% of those treated with MAT followed by ABMT (P = .5). CONCLUSION: Intensified therapy improves response rate and prolongs survival of children with disseminated neuroblastoma, although its impact on the eventual cure rate remains to be established.

Adolescent↗
PubMed1992

Metanephric adenoma.

In a recent survey of more than one hundred childhood renal tumors in our Laboratory files, we identified a unique case characterized by an unusual degree of differentiation and cell maturity. Histologically this case was notable for an orderly array of small and uniformly-packed tubules with a rosette-like configuration. The nuclei were oval, smooth and of a bland appearance. Mitoses were absent. Many glomerular figures were intermingled. This renal tumor picture is somewhat different from that known as tubular Wilms' tumor because of the well-differentiated adenomatous pattern and the absence of any blastema. The term metanephric adenoma is suggested for this tumor, which may represent the benign counterpart of Wilms' tumor.

Adenoma↗
PubMed1992

Histological diagnosis of hepatocellular carcinoma.

The classical morphological criteria in the diagnosis of hepatocellular carcinoma (HCC) include: a) the similarity of tumour cells to hepatic cord cells; b) the trabecular nature of the growth with capillary and canaliculi formation; and c) the intravascular growth of trabecular carcinoma. These criteria apply to the most common variants of HCC but they do not define all cases of HCC. That makes additional criteria and certain refinements necessary. A promising approach to the diagnosis of HCC is that based upon the consideration by the pathologist of some relevant aspects of the natural history of this tumour. A panel of tests exploring the various functions and properties of liver cells should be developed. This study provides a guideline to a dynamic approach in the diagnosis of HCC. The rationale is based on 5 points; among them, bile production, fibrinogen synthesis, Mallory body, fibrinogen G-G selection and HBV antigen expression can be considered at present as confident markers for the morphological diagnosis of HCC.

Bile↗
PubMed1991

N-myc oncogene amplification in a pediatric case of glioblastoma multiforme.

A sample of a primary brain tumor of glial cell origin was surgically removed from a 7-year-old girl. The histopathological analysis showed a heterogeneous tumor containing highly cellular areas composed of small, poorly differentiated cells with frequent mitoses suggestive of a glioblastoma multiforme. There were also areas presenting as features of lower-grade astrocytoma. Strong immunohistochemical staining for glial fibrillar acidic protein was demonstrated, while vimentin, neurofilament, and S-100 protein were all positive in just the astrocytic part of the tumor. The DNA extracted from a fresh tumor sample at diagnosis was processed by Southern blot analysis and hybridized with a 2.0 kb N-myc oncogene probe recognizing the first intron and the second exon of the human gene. A 20-fold amplification of the oncogene was found. The possible role of such a molecular alteration is discussed in light of the clinical presentation and histopathological features.

Biomarkers, Tumor↗
PubMed1991

Cirrhosis of the liver. A regenerative process.

The ancient story of Prometheus, chained to a rock for defying Zeus by stealing fire from Mount Olympus and subjected to daily tearing at his liver by an eagle, attests to the early recognition of the extraordinary regenerative capacity of the human liver. This process had remained an intriguing mystery over the millennia. In the last 20 years, following the pioneering work of Bucher (1) and Moolten et al (2), there has been an explosion of research that has clarified some of the mechanisms underlying the process of hepatic regeneration. Regeneration implies proliferation and regeneration. After the fetal and postnatal growth of the liver is completed, hepatocytes no longer proliferate actively, but they can proliferate in response to cell death or loss (3). Hepatocyte growth responses are of particular research interest because they occur in vivo and involve cells that are normally quiescent. Hepatic regeneration constitutes a highly regulated process that is best shown by the arrest of liver growth following a partial hepatectomy precisely at the moment the hepatic mass reaches the mass of the original intact liver (3). This suggests that hepatic regeneration after a partial hepatectomy is a strictly regulated nonautonomous growth process that is controlled by the same factors that are responsible for the determination and maintenance of hepatic mass in a normal individual. In response to a partial hepatectomy, hepatocytes enter the cell cycle and progress to DNA synthesis and replication but only in numbers sufficient to restore the hepatic mass. The regeneration response is both synchronized and universal in that it affects all intrahepatic cell lines, including nonparenchymal cells.(ABSTRACT TRUNCATED AT 250 WORDS)

Carcinoma, Hepatocellular↗
PubMed1991

Leiomyomatosis of oesophagus, congenital cataracts and hematuria. Report of a case with rectal involvement.

Isolated oesophageal leiomyomatosis in children is very rare. The association between leiomyomatosis of oesophagus and female genital tract and an Alport like hematuric nephritis has been recognized as a distinct entity by Garcia-Torres and Guarner. Since then few other cases of this syndrome have been observed. Congenital cataracts and neurosensory deafness have been added to the clinical spectrum. Autosomal dominant inheritance is suggested by the familial cases. We report a patient who presents, as a new finding, leiomyomatosis of the rectum.

Cataract↗
PubMed1991

Identification of PiZ gene products in liver tissue by a monoclonal antibody specific for the Z mutant of alpha 1-antitrypsin.

Globular inclusions of abnormal alpha 1-antitrypsin (AAT) in the rough endoplasmic reticulum of hepatocytes is a characteristic feature of AAT deficiency of the PiZ phenotype. It is also seen in some rare M-like Pi types (including M-Cagliari) having low plasma AAT levels and M-like mobility on isoelectric focusing. In this report the ability of a monoclonal antibody (ATZ 11) raised against PiZ hepatocytic AAT to identify AAT inclusions by immunohistochemical techniques is evaluated. The antibody was found to specifically and selectively identify the PiZ gene products in hepatocytes, but not M-Cagliari AAT. Application of the method thus allows distinction of PiZ gene carriers from PiM-like subjects in the absence of serum protein analysis.

Antibodies, Monoclonal↗
PubMed1991

Keratin expression in normal vulva, non-neoplastic epithelial disorders, vulvar intraepithelial neoplasia, and invasive squamous cell carcinoma.

The expression of AE1, AE2, AE3, and CAM 5.2 antikeratin monoclonal antibodies was investigated in 68 vulvar specimens by an avidin-biotin complex (ABC) method. They included normal vulva (NV, 10), non-neoplastic epithelial disorders (NNED, 31), vulvar intraepithelial neoplasia (VIN, 17), and squamous cell carcinoma (SCC, 10). AE1 weakly stained the basal cell layer in NV, exhibited a uniform suprabasal stain in hyperplasia, failed to stain dysplastic areas in VIN I-II, and was patchy and disorganized in VIN III and SCC. AE2 stained the upper third of the epithelium in NV, NNED, and VIN I-II, but it failed to stain VIN III basaloid and SCC; VIN III bowenoid was focally positive. AE3 offered little information, because it stained all lesions; VIN III and SCC, however, exhibited a patchy and disorganized stain. CAM 5.2 was expressed in only half of the cases of VIN III basaloid and in one case each of VIN I-II and SCC. We conclude that keratin expression varies according to the degree of dysplasia; AE1 may serve to separate certain cases of NNED from VIN I-II; AE2 and CAM 5.2 are useful to differentiate both histologic types of VIN III.

Antibodies, Monoclonal↗