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C Mecucci

Publications and source records attributed to C Mecucci.

At least 127 records · Page 7Linked to original sources
PubMed1991

Update on the prognostic implication of morphology, histology, and karyotype in primary myelodysplastic syndromes.

The prognostic value of the FAB classification, bone marrow histology, Bournemouth score, and chromosome findings was studied in 88 patients with primary myelodysplastic syndromes. The median survival for the whole group of patients was 22 months (RA 61.7 months, RARS 31.6 months, CMML 15.7 months, RAEB 10.3 months, and RAEBt 8.2 months). Chromosomal abnormalities were found in 37 of the 70 patients investigated (52%). Only the differences in survival between patients with complex versus normal karyotype were statistically significant (p = 0.02). The presence of small blastic cells, located away from the endosteal surface (abnormal localization of immature blasts or ALIP) appears to be a major prognostic factor in predicting the duration of survival and progression to ANLL, especially in the FAB subgroups RA and RARS. Median survival for the 22 ALIP- cases with RA/RARS was 65 months, compared with 31 months for the ALIP+ cases (p = 0.0006). Nine ALIP+ patients (53%) developed ANLL in contrast to 3 (13%) of the ALIP- cases (p = 0.008). By redefining ALIP and evaluating the number and characteristics of the accompanying cells, histological subtypes were distinguished correlating largely with the FAB subgroups. Our findings demonstrate the prognostic importance of bone marrow biopsy and quantifying the complexity of bone marrow chromosome changes. It should be helpful in evaluating current attempts to find effective treatment for patients with MDS.

Adult↗
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↗
PubMed1991

A variant translocation t(2;18) in follicular lymphoma involves the 5' end of bcl-2 and Ig kappa light chain gene.

We have examined three cases of human lymphoma bearing a t(2;18)(p11;q21) chromosome translocation. The bcl-2 gene appeared to be rearranged in all three cases and breakpoints were clustered in the 5' flanking region of the gene. In all three cases, bcl-2 was juxtaposed to J segments of the Ig kappa gene. This juxtaposition of the bcl-2 and Ig kappa genes is very similar to the variant chromosome translocations of Burkitt lymphoma that juxtapose the c-myc locus to IgL genes.

Adult↗
PubMed1990

Philadelphia chromosome-positive chronic myelogenous leukemia in treated Hodgkin's disease.

A patient who developed Philadelphia (Ph) chromosome-positive chronic myelogenous leukemia (CML) 8 years after successful treatment for Hodgkin's disease (HD) is reported. The Ph chromosome with a typical 9(22) translocation was identified by banding techniques in 80% of bone marrow (BM) cells. Southern blot analysis showed breakpoint cluster region (BCR) rearrangement as observed in classical CML. Until now, only three cases of Ph + CML have been reported after treatment for HD. At present, it is not clear whether development of CML after HD represents a therapy-induced complication, an increased susceptibility to secondary malignancies owing to the malignant process itself, a consequence of the immunological deficiencies in HD, or possibly a genetic susceptibility to malignancy.

Blotting, Southern↗
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

t(2;18) and t(18;22) variant chromosomal translocations and bcl-2 gene rearrangements in human malignant lymphomas.

Most human follicular lymphomas bear the specific t(14;18) translocation that juxtaposes the 3' region of bcl-2 to the IgH gene on chromosome 14q+. In some rare cases, t(2;18) and t(18;22) translocations have been observed that involve bcl-2 and either Ig kappa or lambda genes. Strikingly, in these cases all the breakpoints on chromosome 18 are located in the 5' end the bcl-2 gene. These rearrangements are very similar to those recently found in a significant proportion of CLL. Thus, bcl-2 rearrangements in malignant lymphomas cluster in at least three regions: the so-called major breakpoint region (mbr) and minor cluster region (mcr) in more than 85% of t(14;18) translocation, and the newly characterized region 5' of the gene. We propose to call this new cluster region vcr (for variant cluster region).

Chromosomes, Human, Pair 14↗
PubMed1990

P190 BCR/ABL transcript in a case of Philadelphia-positive multiple myeloma.

Philadelphia positive multiple myeloma is a very rare event and, so far, no molecular data about the involvement of the BCR and C-ABL genes are available. We report here the case of a 64-year-old woman presenting with a typical multiple myeloma and a complex Philadelphia (Ph) chromosome that we investigated at a molecular level using conventional DNA techniques and the polymerase chain reaction (PCR). No rearrangement was observed within the major breakpoint cluster region (M-BCR) although she was found to have a P190 BCR/ABL hybrid transcript using PCR. As far as we know, this is the first description of a P190-type mRNA in a patient with a chronic lymphoid disorder. Since P190 is almost always associated in man with acute forms of hematological malignancies, this suggests that other factors may play a role in determining the phenotype of the disease.

Base Sequence↗
PubMed1990

Cytogenetic follow-up after allogeneic bone-marrow transplantation for Ph1-positive chronic myelogenous leukemia.

Serial cytogenetic studies were carried out on 36 patients with Ph1-positive chronic myelogenous leukemia treated with allogeneic bone-marrow transplantation from unlike sex (21 patients) or like sex (15 patients) donors. Fourteen of the 21 sex-mismatched and 12 of the 15 sex-matched donor marrows were T cell depleted. Disease relapse was documented in 19 of the 26 patients who received T cell-depleted marrow, and in none of the 10 patients who received non-T cell-depleted marrow. In the group of patients with unlike sex donor, a triple donor/normal recipient/Ph1-positive recipient or a double donor/Ph1-positive recipient chimerism was documented during the subsequent months, while on alpha-interferon treatment for relapse. Two of these patients subsequently showed a complete disappearance of the Ph1 chromosome. Unstable and/or stable, clonal or non-clonal chromosome changes were detected in Ph1-positive cells from 12 of the 19 patients who relapsed. Analysis of the identified stable changes showed a non-random distribution of breakpoints with clustering to chromosome nos. 1, 4, 7 and 12.

Adolescent↗
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

Clinical-cytogenetic correlations in myelodysplasia (preleukemia).

Cytogenetic studies detected abnormalities in 107 (43%) of the 247 patients in this series. Some degree of overt clinical progression occurred in 55 patients (22%), this being 29% of those patients with cytogenetic abnormalities and 17% of those with normal chromosomes. The presence and complexity of a clonal cytogenetic abnormality correlated with shorter survival. In each clone category of a complexity classification (simple, complex, very complex), patients with some normal cells appeared to have better survival than those with none. In multiple regression analyses, the prognostic value of chromosomes was independent of (and second in importance to) the FAB type of myelodysplastic syndrome (MDS) whichever chromosome classification was used. Patients with refractory anemia (RA) had the lowest incidence of chromosome abnormalities and no cases were found to have only abnormal cells (AA). A greater proportion of patients with refractory anemia with an excess of blasts (RAEB) and RAEB in transformation (RAEB-t) had clonal abnormalities. Morphology alone is not at present able to distinguish between RA or refractory anemia with ringed sideroblasts and similar disorders that may not be MDS in the strict sense. Demonstration of a clonal cytogenetic abnormality remains a positive indication of the presence of the neoplastic nature of the disease.

Adult↗
PubMed1989

Cytogenetic and clinical investigations in 76 cases with therapy-related leukemia and myelodysplastic syndrome.

Clinical, cytomorphologic, and cytogenetic investigations were carried out in a series of 76 secondary MDS and ANLL. Chromosome abnormalities were more frequent in patients with a history of multiple myeloma or macroglobulinemia (92%) and myeloproliferative disorders (82%) than in patients with previous breast cancer (40%). The secondary hematologic malignancies were mostly a trilineage bone marrow disorder. The most commonly found cytogenetic anomaly was monosomy 7, followed by total or partial loss of chromosome 5. In addition six other chromosomes, i.e., chromosome 3, 8, 9, 12, 17, and 21 seemed to be consistently involved in the pathogenetic mechanisms of secondary leukemia and MDS.

Adolescent↗
PubMed1989

Lineage switch and translocation t(9;11) in acute leukemia.

A boy with acute lymphoblastic leukemia (ALL) who underwent lineage switch at relapse is reported. The second leukemia was myeloid in nature (acute myeloid leukemia, AML), characterized by predominantly My 9 positive blasts at first and at second relapse. Cytogenetic studies at second relapse revealed the translocation (9;11) (p21;q23) in all examined blasts. This is typical for myelomonocytic leukemia. The nature of the relapse and the occurrence of t(9;11) translocations in acute leukemia are discussed.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1989

Characterization of deletions of chromosome 7 short arm occurring as primary karyotypic anomaly in acute myeloid leukaemia.

Three patients with an acute myeloid leukaemia (AML) showed a deletion of the short arm of chromosome 7 with loss of the deleted material. The 7p- anomaly originated from either a terminal or an interstitial deletion and it represented the only karyotypic aberration in all the three cases. According to the clinical, morphological and immunological features of this series of patients, a 7p- chromosome appears to be associated with a group of AML with myelodysplastic features in the bone marrow, including secondary disorders in patients treated for a previous malignancy.

Adult↗
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↗