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Biomedical subjects

A Cuneo

Publications and source records attributed to A Cuneo.

At least 91 records · Page 5Linked to original sources
PubMed1992

Morphologic, immunologic and cytogenetic studies in acute myeloid leukemia following occupational exposure to pesticides and organic solvents.

In order to analyze the correlation between environmental exposure and the clinicopathological picture in acute myeloid leukemia (AML), cytogenetic, cyto-immunologic and clinical studies were performed in 70 newly diagnosed AML patients, 30 of which were anamnestically exposed to pesticides (21 cases) or to organic solvents (9 cases). Clonal chromosome aberrations, with involvement of chromosome 5 and/or 7 were more frequently encountered among exposed patients. While the classical t(15;17), t(8;21) and t(9;11) were detected more frequently among non-exposed patients, other recurring chromosome changes in the exposed group were: rearrangements leading to total or partial monosomy 17p (5 cases), structural aberrations involving the band 16q22 (4 cases), trisomy 11q (2 cases), breaks involving bands 6p23, 7p14, 11q13 (2 cases each). Cytologically, trilineage myelodysplasia was observed in 21 exposed patients, whereas morphologic aberrations of the non-blast cell population were confined to a minority of cells in most patients non-exposed. Immunologic studies revealed positivity for the CD34 stem cell marker in 80% exposed patients vs 22% in the non-exposed group. Conventional chemotherapy achieved complete remission in 3/21 patients exposed and in 16/32 patients non-exposed. Median survival was 2 months in the former group and 9 months in the latter group. These findings show that AML following occupational exposure to pesticides and organic solvents may represent a distinct cytogenetic and clinicopathological entity.

Adolescent↗
PubMed1992

Non-radioactive in situ hybridization for the detection and monitoring of trisomy 12 in B-cell chronic lymphocytic leukaemia.

Non-radioactive in situ hybridization (NISH) with a chromosome 12-specific alpha satellite probe was performed on 20 patients with chronic lymphocytic leukaemia (CLL) with normal karyotype (15 cases) or with inadequate mitotic yield (5 cases) from mitogen-stimulated cultures. All patients had over 70% lymphocytes coexpressing the CD5/CD23 antigens. While less than 1% interphase nuclei showed three fluorescent spots in 16/20 patients, evidence of trisomy 12 in 15-25% interphase cells was detected in four patients. According to the FAB classification the diagnosis in these patients was typical B-CLL, stage III (Rai's staging system) in one case, CLL/PLL, stage II and III in two cases, PLL, stage III in one case. In order to confirm these results, NISH was repeated after 1 month in one patient and after 2 years in three patients. All patients had been treated with chemotherapy in the period between the two NISH experiments. In all cases a 1.8-3-fold increase of percentage of trisomic interphase cells was detected. These findings suggest that in B-CLL clones with trisomy 12 may have proliferative advantage over clonal B-lymphocyte without +12 and, possibly, that they may be more resistant to chemotherapy. We conclude that NISH is a sensitive technique allowing for the detection and monitoring of trisomy 12 in a fraction of B-CLL patients with normal karyotype or with no analysable mitoses despite employment of polyclonal B-cell mitogens.

Aged↗
PubMed1992

[Current view on non-Hodgkin lymphomas. Origin and evolution in relation to cytogenetic-histologic correlations].

Recent advances in immunology, cytogenetics and molecular genetics has allowed for a better understanding of the origin and evolution of non Hodgkin lymphoma (NHL). Over the last decade a number of recurrent chromosome aberrations has been disclosed and some correlations with well defined histologic subsets of B-cell NHL has been established. Five important cytogenetic-histologic associations has been documented, well defined by combined cytologic, immunologic and genetic investigations: t(14;18) (q32;q21) and NHL of follicle centre cell origin, frequently with follicular histologic pattern; t(8;14) (q24;q32) and Burkitt's lymphoma, Burkitt-like lymphoma or the equivalent small non-cleaved cell category of the "working formulation system"; t(3;22) (q27;q11) and diffuse large cell lymphoma; t(11;14) (q13;q32) and mantle zone lymphoma; trisomy 12 and chronic lymphocytic leukemia and well-differentiated small lymphocytic lymphoma. Molecular genetic studies elucidated some mechanisms operating during the normal lymphocyte differentiation which may be held responsible for the illegitimate recombination between the immunoglobulin genes and some oncogenes normally located on other chromosome regions. It has thus been demonstrated that the early events leading to neoplastic transformation in B-cell neoplasias occur in immature lymphocyte precursors in the bone marrow during the assembly of the immunoglobulin heavy chain gene. According to some recent studies chromosome changes may have prognostic value in B-cell NHL and chronic lymphocytic leukemia and may be employed in clinical practice in the construction of proportional hazard models in several histologic subsets of NHL.

Humans↗
PubMed1991

Lymphoblastic lymphoma with primary splenic involvement and the classic 14;18 translocation.

Clinicopathologic features of a case of lymphoblastic lymphoma (LyL) with the classic 14;18 translocation are described in this article. The patient had prominent splenomegaly with numerous splenic nodules, exhibiting a homogeneous blast cell infiltrate and occasional cells with cleft nuclei, a picture suggestive of high-grade non-Hodgkin lymphoma (NHL) possibly lymphoblastic. Early B-cell features were detected immunologically, thus confirming the diagnosis of LyL. The presence of primary splenic involvement and of the t(14;18)(q32;q21) are unusual in this histologic subset of B-cell NHL, these cytogenetic and clinicopathologic characteristics being typically associated with low- or intermediate-grade NHL of follicle center origin. These features, along with the presence of some centrocytelike cells in the biopsy sections, suggest that an unusual pattern of histologic evolution from a follicle center cell NHL may have occurred in this case of LyL.

Aged↗
PubMed1991

Megakaryoblastic leukemia with an N-ras mutation and late acquisition of a Philadelphia chromosome.

A patient is described with de novo acute non-lymphocytic leukemia of megakaryoblastic lineage with tri-lineage myelodysplasia. This patient was studied cytogenetically and using molecular genetic techniques throughout her clinical course. She had an N-ras mutation at diagnosis which persisted despite a bone marrow transplant, and acquired a Philadelphia chromosome associated with a P190 BCR-ABL transcript at clinical relapse 3 months post-transplantation.

Adult↗
PubMed1990

Morphologic, immunologic and cytogenetic studies in erythroleukaemia: evidence for multilineage involvement and identification of two distinct cytogenetic-clinicopathological types.

Clinical features, as well as morphology, immunophenotype and cytogenetics were retrospectively studied in 20 patients with an original diagnosis of erythroleukaemia (EL) reclassified according to the FAB criteria. Fifteen patients had de novo EL, five patients had therapy-related EL. Myelodysplasia preceded the onset of EL in eight cases and myelodysplastic features involving multiple haemopoietic lineages were observed at leukaemia presentation in all cases. Immunologic findings confirmed multilineage involvement, showing sub-population of cells expressing platelet-associated markers in more than 50% of cases tested and the presence of a myelomonocytic component, besides glycophorin A-positive cells. Cytogenetically, major karyotype aberrations (MAKA), defined by the presence of three or more aberrant events in the same clone, were observed in 14 cases, minor karyotype aberrations (MIKA) were observed in four cases and normal karyotype in two cases. No differences in the cytological-cytogenetic picture of our patients with de novo EL, and with therapy-related EL were found suggesting that aetiological factors and/or pathogenetic mechanisms common to EL and secondary leukaemia may exist. All patients with MAKA had leftward shift of erythropoiesis with proerythroblasts and basophilic erythroblasts usually representing more than 50% of all erythroid cells. In patients with MIKA or normal karyotype, maturatio of erythroid cells, though morphologically abnormal, was quantitatively preserved and early erythroblasts never exceeded 25% of erythroid cells. Clinically, the haemoglobin level at presentation, as well as in the proportion of patients achieving complete remission after chemotherapy, appeared to be lower in the maturation arrest-MAKA group as compared to the preserved maturation-MIKA/normal karyotype group. Median survival was shorter in the former group (3.5 months) than in the latter (median 13 months). Morphologic-immunologic-cytogenetic studies thus allow for the identification of two distinct cytogenetic-clinicopathological types of EL.

Adult↗
PubMed1990

Rearrangement of immunoglobulin and TCR genes in lymphoid blast crisis of Ph+ chronic myeloid leukaemia.

Clonal rearrangements of immunoglobulin heavy chain genes as well as both T cell receptor (TCR) delta and gamma genes were found in four cases of blast crisis of Ph+ chronic myeloid leukaemia with unequivocal B cell precursor (common) immunophenotype. In one case, the TCR beta chain gene was also rearranged. Although the developmental sequence of TCR delta, gamma and beta rearrangements in T lymphocytes appeared to be respected, a full phenotypic effect, characteristic of T cell was not observed in these otherwise typical 'common' blast cells. Cytogenetic analysis ruled out the occurrence of TCR rearrangement due to structural chromosome changes. A high incidence of unexpected TCR gene rearrangements has been previously reported in the de novo 'common' acute lymphoblastic leukaemias (ALL). Our cases of chronic myeloid leukaemia (CML) in lymphoid blast crisis show that genotypic similarities may exist between these two haematological entities.

Antigens, Neoplasm↗
PubMed1990

5q- anomaly in lymphoid disorders.

Observations made in two patients and a review of the literature confirm the occurrence of a 5q- chromosome anomaly in lymphoproliferative disorders of both T and B cell type. Additional chromosome changes were invariably present and are of the "lymphoid" type. The chromosome morphology of the 5q- is indistinguishable from that found in myeloid disorders.

Antigens, Surface↗
PubMed1989

Translocation t(6;9) occurring in acute myelofibrosis, myelodysplastic syndrome, and acute nonlymphocytic leukemia suggests multipotent stem cell involvement.

The cytological and cytogenetic features of six patients with myeloid neoplasia and t(6;9)(p23;q34) including a case of acute myelofibrosis (AMF), a refractory anemia with excess of blasts (RAEB), and four cases of acute nonlymphocytic leukemia (ANLL) are described. Two patients in this series, both affected by ANLL type M2, presented an increase of bone marrow basophils, suggesting that this cytological-cytogenetic association is not absolute and that it may be more frequently observed in ANLL with maturation. All patients with de novo ANLL showed associated myelodysplastic features, and one patient presented a dysmyelopoietic syndrome, later evolving into ANLL. The presence of the t(6;9) in a range of myeloid neoplasias, with either concurrent myelodysplastic features or a preleukemic phase in cases of ANLL, provide evidence that this chromosome aberration may always involve a multipotent myeloid stem cell. Data on toxic exposure of the patients suggests that myeloproliferative disorders with the t(6;9) may frequently represent environmentally induced neoplasias.

Adolescent↗
PubMed1989

Cytogenetic analysis of different cellular populations in chronic myelomonocytic leukemia.

Karyotypes of different cellular populations made after separation of bone marrow cells on a gradient of Percoll were evaluated in seven patients affected by chronic myelomonocytic leukemia diagnosed according to FAB criteria. Megakaryocytes, monocytic cells, and granulocytic and erythroid precursors were preferentially collected after centrifugation between density layers of 1045-1050 mg/ml, 1050-1060 mg/ml, and 1065-1070 mg/ml, respectively. The enriched cell fractions were cultured separately and submitted to cytogenetic investigation after short-term culture. Some chromosome aberrations (5q-,+8) were observed in all cellular fractions in three patients, thus providing cytogenetic evidence of the involvement of a common progenitor stem cell in this myelodysplastic disorder. On the other hand, chromosome abnormalities such as del(3)(q21) and del(11)(q23) appeared to be confined to the megakaryocytic and the monocytic fractions, respectively, in two patients. It is conceivable that lineage-restricted aberrations may develop as a consequence of a multistep clonal evolution and may show a close relationship with the hemopoietic differentiative processes.

Aged↗
PubMed1989

Multipotent stem cell involvement in megakaryoblastic leukemia: cytologic and cytogenetic evidence in 15 patients.

Cytologic and cytogenetic results obtained from patients fulfilling the FAB criteria for the diagnosis of acute nonlymphocytic leukemia (ANLL) of megakaryocytic lineage (ANLL-M7) are reported. Eleven cases were de novo ANLL-M7, of whom three presented with acute myelofibrosis. Four cases were megakaryoblastic transformations of chronic myelogenous leukemia (two cases), refractory anemia with excess of blasts (one case), and polycythemia vera (one case). Four patients showed a minority of granular blasts, with occasional Auer rods in one. Positive myeloperoxidase and/or sudan black-B stainings and CD13 positivity in these cases were consistent with the presence of a myeloid involvement. Morphologic evidence of associated myelodysplastic features was detected in all evaluable patients with de novo ANLL-M7. These cytologic findings indicate that ANLL-M7 may frequently represent a multilineage proliferation. Cytogenetic studies revealed -7/7q- and +8, alone or in combination with additional aberrations, in three cases each. Rearrangements involving bands 3q21 or 3q26 were seen in two patients and +21, as an additional aberration, in one. Other structural rearrangements all observed in a single patient were inv(16)(p13q22) at megakaryoblastic relapse with bone marrow eosinophilia, t(13;20)(q13 or 14;q11), del(20)(q11), and der(7)t(7;17)(p14;q22). Most breakpoints of these aberrations are located at bands frequently rearranged in malignant myeloid stem cell disorders. A review of 31 cases of the literature showed a frequent occurrence of -7/7q- and -5/5q- in ANLL-M7. Many of the chromosome aberrations so far described in ANLL-M7 appear to be shared by a spectrum of myeloid neoplasias and may be related to mechanisms conferring proliferative advantage to undifferentiated stem cells.

Adolescent↗
PubMed1987

Cytogenetic aspects of B-cell chronic lymphocytic leukemia: their correlation with clinical stage and different polyclonal mitogens.

Blood lymphocytes from 23 patients with B-cell chronic lymphocytic leukemia were stimulated with different mitogens (lipopolysaccharide from E coli, phorbol myristate acetate ester, Staphylococcus aureus, and phytohemagglutinin M form). Functional properties of stimulated cells (blastic transformation, mitotic index, cIg production, Ig secretion, and acid phosphatase positivity) were evaluated and correlated with the stage of disease and chromosomal findings. Early stages of the disease are characterized by a relatively homogeneous response to polyclonal B-cell and activators and by a restricted number of chromosomal aberrations. Advanced stages show a more heterogeneous pattern of response and a higher incidence of abnormal karyotypes suggesting an involvement of various subclonal lines.

Antibody-Producing Cells↗
PubMed1987

Chromosome abnormalities in myelofibrosis.

Cytogenetic analysis was performed on megakaryocyte-enriched cell fractions obtained by separation on discontinuous Percoll gradients from blood, bone marrow, and ascitic fluid of 12 patients with myelofibrosis with myeloid metaplasia (MMM). The most common abnormalities appeared to involve chromosomes 1, 3, 7, 8, 11, 13, 21 and 22. Although no specific chromosome rearrangements were observed in megakaryocytic fractions from different tissues of the patients with MMM, the presence in one case of a 3q-abnormality restricted to polyploid metaphases only, and of a 3q paracentric inversion in another patient, seems to confirm a close relationship between the involvement of chromosome 3 and dysplastic thrombopoiesis.

Chromosome Aberrations↗
PubMedDate not supplied

[Biliary ileum and surgical emergency].

The Authors report a case of intestinal occlusion due to a gallstone migrated in jejunum and, with a review of the literature, stress the difficult decision making for surgical timing in a critical patient.

Aged↗