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Biomedical subjects

G Basso

Publications and source records attributed to G Basso.

At least 145 records · Page 8Linked to original sources
PubMed1992

Unique genotypic features of infant acute lymphoblastic leukaemia at presentation and at relapse.

Acute lymphoblastic leukaemia (ALL) of infants aged less than 1 year represents a group of patients with peculiar biological features, poor response to therapy and unfavourable prognosis. In order better to characterize this type of leukaemia, we have investigated the immunoglobulin (Ig) and T-cell receptor (TCR) genes configuration of 21 infants with ALL, and compared the genotypic features with the phenotypic and karyotypic data, as well as with the clinical outcome. All cases had a pre-B phenotype; 12 (57%) of them were pre-pre-B ALL (CD10-, CD19+). Six of the 16 cases evaluated (38%) displayed chromosomal abnormalities; five had the typical translocation t(4;11)(q21;23). Eleven cases presented with a white blood cell count greater than 100 x 10(9)/l. The clinical course was unfavourable in 14 patients. The genotype of this group of ALL revealed several peculiarities. (1) Of the 21 cases, six (29%) displayed a multiple rearrangement pattern at the IgH locus. (2) In three cases (15%), the light chain genes were rearranged. (3) The TCR beta and gamma genes were rearranged in only one case (one case at the TCR beta and one at the TCR gamma locus). (4) The TCR delta chain was rearranged in eight cases (40%) and rarely deleted; the rearrangements observed were those most frequently observed in B cell-precursor ALL. Two cases were evaluated both at presentation and at relapse. While the immunophenotype had remained unmodified, comparison of Ig heavy chain gene rearrangements revealed clonal variations in both cases. Taken together, these findings further underline the biological peculiarities of infant ALL compared to ALL which occurs in older children and in adults, and stress the need of differentiated and aggressive therapeutic approach for these patients.

Antigens, Neoplasm↗
PubMed1992

The immunophenotype in infant acute lymphoblastic leukaemia: correlation with clinical outcome. An Italian multicentre study (AIEOP).

A detailed analysis of immunophenotype of 112 infants aged less than 18 months with acute lymphoblastic leukaemia (ALL) was performed. Patients were divided into three groups on the basis of age at presentation (under 6 months: group 1: 6-12 months: group 2; 13-18 months: group 3). There were three cases of T-ALL (2.6%). The proportion of other subtypes was: common ALL in 59 patients (52.68%), pre-B ALL in 15 patients (13.3%), pre-pre-B ALL in 27 (24.1%) and acute undifferentiated leukaemia (AUL) in eight patients (7.14%). In non-T ALL, positivity to CD10 (corresponding to C-ALL and pre-B ALL) was distributed in the three age groups as follows: 38.88% (group I) 65.38% (group II) and 86.36% (group III). Conversely, immature phenotypes (pre-pre-B and AUL) were found more often in the younger patients of groups I and II, as well as anomalous phenotypes, such as the presence of myeloid antigens (MyAg) and of CD7. Prognostic significance was evaluated as event-free survival (EFS) by statistical analysis. A better outcome in CD10-positive ALL than in CD10-negative ones (48% v. 25% of long-term survivors) was demonstrated in all infants. Similarly, EFS was significantly better in MyAg-negative than in MyAg-positive cases. These results were confirmed also when adjusting for white blood cell count. This allowed the identification of CD10-negative, MyAg-positive ALL, which were relatively more frequent in infants and had a poorer clinical outcome with the current therapies. This study stresses the prognostic relevance of the immunological study in infant leukaemias and its utility in choosing different therapeutic modalities for poor risk phenotypes.

Antigens, CD↗
PubMed1992

Early and rapid diagnosis of CMV infection by nonradioactive in situ hybridization in pediatric kidney transplant recipients.

A nonradioactive in situ hybridization technique was utilized for the rapid and early diagnosis of cytomegalovirus (CMV) infection in children undergoing kidney transplantation. The cellular samples were obtained directly from the organs thought to be affected on the basis of clinical findings: bronchoalveolar lavage during interstitial pneumonia (7 samples from 6 cases); fine-needle aspiration biopsy (FNAB) of the liver during acute hepatitis (1 case); kidney FNAB and peripheral blood where there was a greater than or equal to 25% creatinine rise with or without fever (26 episodes). Standard virus isolation procedures and an immunofluorescent technique on short-term cultures of human fibroblast cells were performed as a control. 6/23 children followed had a symptomatic CMV infection (4 had interstitial pneumonia; 1 had acute hepatitis, and there was 1 case of creatinine rise with fever). In all cases, the diagnosis was provided by in situ hybridization in less than 24 h. These results were confirmed 48 h later by immunofluorescence and after 5-25 days by standard viral cultures. In situ hybridization with a biotinylated probe proved to be a rapid and sensitive method for diagnosis of CMV disease, when performed on specimens obtained from the involved organs at an early stage of the infection. This diagnostic approach allowed a specific antiviral therapy to be undertaken promptly.

Biopsy, Needle↗
PubMed1992

Minimal residual disease in childhood acute lymphoblastic leukemia: analysis of patients in continuous complete remission or with consecutive relapse.

Differences in tumor cell burden among acute lymphoblastic leukemia (ALL) patients are largely unexplored, because methods of detecting residual malignant cells have not been sufficiently sensitive. Using the polymerase chain reaction (PCR) amplification of rearranged T-cell receptor delta(TCR delta)-chain junctional sequences for the preparation of clonospecific probes, we performed a retrospective PCR study of remission bone marrow (BM) samples in seven pediatric patients with ALL who subsequently relapsed (the largest series studied so far) and in 10 patients who were in longterm (greater than 39 to greater than 72 months) remission. Following two rounds of PCR primed by nested amplimers, 1 x 10(-4) to 1 x 10(-6) cells could be identified in 16 out of 17 cases. PCR analysis of 39 BM and peripheral blood samples obtained from ALL patients considered to be in complete remission according to morphological criteria revealed the following results. In BM remission specimens of all 10 patients in continuous complete remission for a long time (median 55 months), no residual leukemic cells could be identified in the latest remission sample available for PCR analysis. In three patients the persistence of residual leukemic cells, or the continuous increase of residual blasts to the point of clinical manifestation, were indicative of impending relapse. In three patients PCR analysis failed to identify residual leukemic cells in BM samples obtained 2, 6 and 16 months respectively before clinical relapse. Differences in the duration of minimal residual disease were not associated with distinct clinical-hematological features. In one patient a different pattern of V delta 2 recombination occurred in leukemic cells from diagnosis to relapse, thus preventing the further monitoring of the patient by the initial clonospecific probe.

Bone Marrow↗
PubMed1992

Large-cell medulloblastomas. A distinct variant with highly aggressive behavior.

We present four cases of infantile cerebellar neoplasms composed of cells with large vesicular nuclei with prominent nucleoli. All four cases were strongly immunoreactive for synaptophysin, and one case showed immunoreactivity for neurofilaments. Filter hybridization for N-myc and c-myc oncogenes showed a 27-fold c-myc amplification in one case. The cytogenetic analysis in this case showed Double-Minutes and isochromosome 17q. An intracerebral xenograft in nude mice obtained from one such tumor showed a similar morphology to that of the original tumor as well as strong immunoreactivity for synaptophysin and neurofilaments. All the neoplasms were characterized by highly aggressive behavior leading to early cerebrospinal fluid dissemination despite radiotherapy and chemotherapy. We conclude that large-cell medulloblastoma represents a distinct and more aggressive variant of medulloblastoma that requires more aggressive therapy.

Blotting, Southern↗
PubMed1991

N-myc and c-myc oncogenes amplification in medulloblastomas. Evidence of particularly aggressive behavior of a tumor with c-myc amplification.

N-myc and c-myc amplification was investigated in 27 medulloblastomas. DNA was extracted from 19 formalin fixed and paraffin embedded tumors and from fresh frozen tumor tissue in 8 other cases. The results showed no evidence of amplification of N-myc oncogene and only 1 case had a 27 fold amplification of c-myc. Cytogenetically, this neoplasm presented numerous double minute chromosomes (DMs). Moreover, it had an unusual rapidly aggressive course with massive cerebrospinal fluid dissemination unresponsive to intrathecal chemotherapy. Our results indicate a low incidence of N-myc and c-myc gene amplification in medulloblastomas, suggesting that the oncogenic mechanism in these neoplasms is not closely related to DNA gene amplification. C-myc amplification, although not frequently observed, may however provide a growth advantage for medulloblastoma cells in vivo, favoring their rapid dissemination. Medulloblastomas with c-myc activation may represent a subgroup of tumors with a more aggressive behavior.

Adolescent↗
PubMed1991

Does hepatitis B virus play a role in primary liver cancer in children of Western countries?

Hepatitis B virus (HBV) infection was evaluated in serum and liver specimens of eight Italian children with primary liver cancer. All children were negative for HBV markers in serum but four of them showed HBV-DNA sequences and/or HBs antigen expression in the liver. In one case, viral DNA was present in both neoplastic and non-neoplastic tissue, while in one case HBV-DNA was detectable only in nontumoral tissue and in one case only in the tumor area. In these cases, scattered HBsAg was expressed in the cytoplasm of cells in normal part of the liver and in another case neoplastic cells secreted HBsAg in culture. In two cases, the histologic diagnosis was HCC; one case had mixed HPB and one had macrotrabecular HPB. All children were more than 1 year of age. The remaining four children were histologically diagnosed as HPB and were less than 1 year of age. These findings suggest that HBV may be a cofactor for the development of liver cancer also in children of Western countries and that the risk of infection progressively increases with age.

Carcinoma, Hepatocellular↗
PubMed1990

Cerebral lateralization in simultaneous interpretation.

Cerebral asymmetries for L1 (Italian), L2 (English), and L3 (French, German, Spanish, or Russian) were studied, by using a verbal-manual interference paradigm, in a group of Italian right-handed polyglot female students at the Scuola Superiore di Lingue Moderne per Interpreti e Traduttori (SSLM-School for Interpreters and Translators) of the University of Trieste and in a control group of right-handed monolingual female students at the Medical School of the University of Trieste. In an automatic speech production task no significant cerebral lateralization was found for the mother tongue (L1) either in the interpreting students or in the control group; the interpreting students were not significantly lateralized for the third language (L3), while weak left hemispheric lateralization was shown for L2. A significantly higher degree of verbal-manual interference was found for L1 than for L2 and L3. A significantly higher disruption rate occurred in the meaning-based mode of simultaneous interpretation (from L2 into L1 and vice versa) than in the word-for-word mode (from L2 into L1 and vice versa). No significant overall or hemispheric differences were found during simultaneous interpretation from L1 into L2 or from L2 into L1.

Adult↗
PubMed1990

ABL proteins in Philadelphia-positive acute leukaemias and chronic myelogenous leukaemia blast crises.

The Philadelphia chromosome (Ph1) is present in 95% of chronic myelogenous leukaemias (CML) and 15% of acute lymphoblastic leukaemias (ALL). This cytogenetic marker is due to a t(9;22) translocation, which causes a rearrangement of the ABL oncogene. In order to better define the relationship between type of genomic rearrangement, variant ABL protein expressed and haematological phenotype, a series of Ph1-positive acute leukaemias, both myeloblastic (AML) and lymphoblastic, and several CML lymphoid blast crises have been analysed at the DNA and protein level. The results confirm the presence of the ABL protein P210 in all cases of CML, ALL and AML positive for rearrangement in the bcr region of chromosome 22, and, surprisingly, in one AML case apparently negative for bcr rearrangement. The ABL protein P190 was found to be present only in cases of ALL negative for bcr rearrangement. Polymerase chain reaction (PCR) analysis of the types of 9/22 junctions present in the mRNA of CML lymphoid blast crises showed no evidence of 'ALL-type' transcripts.

Adult↗
PubMed1989

[The value of color Doppler studies to conventional cardiac Doppler studies].

Colour Doppler is a recent and important development among non-invasive diagnostic techniques in cardiology. A series of 500 adults has been studied in order to define the contribution made by colour Doppler to conventional Doppler. After elimination of patients with normal echo Doppler studies, colour Doppler contribution has been considered useful in 51% of the cases and was essential in 13%. Main contributions have been noted in valvular regurgitations, multiple valvular lesions, prosthetic valves and congenital cardiopathies. Colour Doppler appears as an useful, but not as an indispensable complement to conventional Doppler in adult cardiology.

Color↗
PubMed1989

Molecular characterization of Ph' + hybrid acute leukemia.

The configuration of the immunoglobulin heavy chain (IgH), T-cell receptor (TcR) beta and gamma chain regions, and the major breakpoint cluster region (M-bcr) genes were analysed in four cases of Ph' + acute leukemia (AL). Monoclonal rearrangements of the IgH region were detected in three cases exhibiting two phenotypically distinct cell populations (i.e. one lymphoid and one myeloid. In one of these cases, identical genetic events were observed by molecular analysis of FACS separated blasts. Multi-lineage rearrangements involving also the TcR gamma gene were observed in a biphenotypic AL showing co-expression of markers. The lack of rearrangements within the M-bcr gene, together with demonstration in one case of the Ph' + AL specific p190 protein product, pointed against the occurrence of chronic myeloid leukemias presenting in blastic transformation. Our results imply that such cases are to be considered as true AL and should therefore be included in the definition of hybrid AL.

Acute Disease↗
PubMed1987

Rearrangements of immunoglobulin and T cell receptor beta and gamma genes are associated with terminal deoxynucleotidyl transferase expression in acute myeloid leukemia.

The cell origin of the rare terminal deoxynucleotidyl transferase (TdT)-positive acute myeloid leukemias (AML) was investigated at the molecular level, by examining the configuration of the Ig H (Igh) and L (Ig kappa, Ig lambda) chain gene regions, and of the T cell receptor (TCR) beta and T cell rearranging (TRG) gamma loci. In 8 of the 10 TdT+ AML analyzed (classified as myeloid according to morphological and cytochemical criteria, and to the reactivity with one or more antimyeloid mAbs), a rearrangement of the Igh chain gene was found. In TdT- AML, evidence of an Igh gene reorganization was instead observed only in 2 of the 42 patients studied. Furthermore, evidence of TCR-beta and/or TRG-gamma gene rearrangement was observed in four AML, all of which belonged to the Igh-rearranged TdT+ group. In three cases (one TdT+ and two TdT-), the Ig kappa L chain gene was also in a rearranged position. These findings demonstrate a highly significant correlation between TdT expression and DNA rearrangements at the Igh and TCR chain gene regions and support the view that this enzyme plays an important role in the V-(D)-J recombination machinery. Overall, the genomic configuration, i.e., JH gene rearrangement sometimes coupled to a kappa L chain and TCR gene reorganization, similar to that found in non-T-ALL, suggests that in most cases of TdT+ AML, the neoplastic clone, despite the expression of myeloid-related features, is characterized by cells molecularly committed along the B cell lineage.

Adolescent↗
PubMed1987

Heterogeneity of TdT+, HLA-DR+ acute leukaemia: immunological, immunocytochemical and clinical evidence of lymphoid and myeloid origin.

15 cases of acute leukemia (AL) displaying a TdT+, HLA-DR+ phenotype were studied; surface immunoglobulins, T cell markers and the common acute lymphoblastic leukaemia (c-ALL) antigen were negative, as were peroxidase and non-specific esterase cytochemical reactions. All cases were extensively investigated by conventional immunofluorescence (IF) and immunoperoxidase (IP), with a panel of monoclonal antibodies (MoAb), using both light and electron microscopy, and for ultrastructural myeloperoxidase (MPO). 8 cases, which were OKB2+, BA1+, B4+, J5- and BA2- by IF, expressed the J5 antigen in IP. These cases were therefore re-classified as ALL with a weak expression of the C-ALL antigen. The other 7 cases showed an OKB2-, BA1-, B4+, BA2+ phenotype at IF and were also positive for 1 or more anti-myeloid MoAb. These features were confirmed by IP study. 4 patients also presented ultrastructural positivity to MPO. These cases were considered as proliferations of early precursor cells capable of expressing both myeloid and lymphoid features. This study, while demonstrating the heterogeneity of TdT+, HLA-DR+ AL, suggests that the cell origin of many cases may be defined by extensive immunotyping at both IF and IP level. The prognostic and therapeutic implications of these findings are discussed, also in view of the poor prognosis often observed in the more undifferentiated cases of AL.

Acute Disease↗
PubMed1987

Genotypic characterization of common acute lymphoblastic leukemia may improve the phenotypic classification.

The reactivity of five anti-B monoclonal antibodies (McAb)-OKB2 (CD24), B4 (CD19), Leu12 (CD19), BA1 (CD24), B1 (CD20)--as well as the presence of cytoplasmic immunoglobulins (CyIg) were assessed in 100 cases of common acute lymphoblastic leukemia (cALL) at presentation (TdT+, J5 [CD10]+, HLA-Dr+). All cases studied revealed one or more B-cell related markers and a hierarchy in their expression was documented: OKB2 was positive in all cases tested (100%), B4 was expressed in 96.4% of cases, Leu12 in 95.8%, BA1 in 94.9%, B1 in 18.3%, and CyIg in 23%. Further evidence of the B-cell origin of cALL was obtained by molecular analyses at the DNA level which demonstrated the presence of an Ig heavy chain gene rearrangement in all 37 cases assessed, while 37.8% showed a light chain gene reorganization. A genomic subclassification of cALL demonstrated that the majority of cases showed an immature molecular configuration with one (8.1%) or both (54.1%) Ig heavy chain alleles rearranged and a germ-line configuration of the light chain genes; 27% revealed a heavy chain gene involvement and one k allele rearranged. Only four cases (10.8%) showed a more mature configuration with both k alleles rearranged or a gamma chain gene involvement. This study confirms that cALL is characterized by the proliferation of immature B-lineage-committed elements and indicates that the leukemic cells are blocked at different levels of B-differentiation which may be recognized with the use of multiple phenotypic or genotypic B-cell-related markers.

Alleles↗