Search PubMed⌕ Search

Biomedical subjects

M T Ferro

Publications and source records attributed to M T Ferro.

At least 37 records · Page 2Linked to original sources
PubMed1995

[Blast differentiation in a patient with chronic myeloid leukemia in blast crisis using retinoic acid].

Clonal proliferation in agar, cell maturation and cell cycle characteristics were studied on peripheral blood cells from a patient with chronic myeloid leukaemia (CML) in blast crisis. Studies were performed in normal conditions and after incubation with all-trans retinoic acid 10(-6) M. At the time of the study the patients showed 300 x 10(9)/leukocytes/L (40% blast and promyelocytes). Cytogenetic studies showed 90% metaphases with t (9; 22) and t (18; 21). DNA index was 1.36. In agar cultures 450 CFU/2 x 10(5)/L cells, plus abnormal clusters were obtained, in the presence of conditioned media, and 115 normal CFU-GM after addition of all-trans retinoic acid 10(-6)M. Addition of retinoic acid to cellular suspension in liquid cultures decreased the number of immature cells from 20 to 2% in 5 days and decreased the number of cells in "S" phase from 33 to 11% after 8 days. These results show cytodinamic abnormalities in patients with CML in blast crisis and potential reversibility of these alterations by all-trans retinoic acid.

Blast Crisis↗
PubMed1994

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.

Aged↗
PubMed1994

Burkitt lymphoma with a duplication of der(8)t(2;8). Interpretation of a complex karyotype by chromosome painting.

A 51-year-old male patient was diagnosed with Burkitt lymphoma 3 months after cardiac transplantation. The bone marrow karyotype was very complex, and to better define the complex karyotype we used the in situ suppression hybridization technique. Previously we interpreted this karyotype to be: 48,XY,t(2;8)(p11;q24), +der(2)t(2;8)(p11;q24),del(2)(q23), +7, +der(8)t(2;8)(p11;q24), +12, -13, -18, by G banding techniques, with a duplication of the t(2;8) derivatives. After in situ hybridization we changed to a: 48,XY,t(2;8)(p11;q24),t(2;18)(q23;q22), +7, +der(8)t(2;8)(p11;q24), +12, -13, which implies duplication of only one t(2;8) derivative.

Burkitt Lymphoma↗
PubMed1994

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.

We have investigated 59 Becker muscular dystrophy patients, representing 56 independent mutations, to test the hypothesis of predictability of muscle dystrophin expression and clinical phenotype based on location of dystrophin gene mutations. Partial intragenic deletions and duplications account for 82% of the independent mutations, of which 76.7% were deletions and 5.3% duplications. Mutations in which boundaries could be defined, were of in-frame type (35 out of 37, 94.6%, with two exceptions. Eighty-two percent of mutations were located at the distal part of the rod domain (exons 45-60), 9% at domain I (promoter through exon 9) and 9% at proximal and central parts of domain II. Domain I deleted patients tended to have a worse clinical phenotype, with earlier presentation, faster progression rate and lower dystrophin expression, while distal rod domain deleted patients showed a more classic Becker muscular dystrophy phenotype. Between these two groups, only the differences in the immunohistochemical patterns of dystrophin expression and disease progression rate were statistically significant. Partial clinical and biochemical heterogeneity was observed in the distal domain II patient group, due to the presence of few patients covering the extremities of clinical severity. Two asymptomatic patients had deletions located in the central (exons 41-44) and distal parts (exons 50-53) of the rod domain. Severe myalgia and cramps were often reported as early onset symptoms (18 out of 59): no correlation was found between this symptomatology and the location of the mutation. Relative levels of muscle dystrophin correlated with immunohistochemical patterns of subsarcolemma staining. Dystrophin levels (as estimated by 30 kDa antibody immuno-reactivity) correlated with age of reaching a moderate degree of muscle involvement as well as with delay in reaching that stage, a parameter of disease progression rate. Our data confirm that different Becker muscular dystrophy gene in-frame mutations have different effects on dystrophin expression and clinical severity, indicating several functional roles of the dystrophin domains.

Adolescent↗
PubMed1994

[Chediak-Higashi-like inclusions in acute myeloblastic leukemia. Ultrastructural study].

The pseudo-Chédiak-Higashi anomaly is characterized by the presence of giant granules in the cytoplasm of blast cells in acute leukemia. We report here a new case of acute myelogenous leukemia (M2 type) with this alteration. The granules were azurophilic or eosinophilic and reacted strongly to peroxidase stain. Ultrastructural studies showed that the granules contained a dense matrix and occasionally "finger print" structures at the periphery; in some inclusions, fibrillar structures of myelinic figures could be seen. The matrix was reactive to peroxidase and small vesicles were prominent in the cytoplasm near the granules. We conclude that the giant granules could have been formed by the fusion of primary granules and/or by the fusion of these small dense vesicles.

Chediak-Higashi Syndrome↗
PubMed1993

[The usefulness of the bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia].

BACKGROUND: The rearrangement of the bcr/abl gene constitutes the molecular substrate of the Philadelphia chromosome (Ph'). The aim of this study was to analyze the usefulness of bcr/abl rearrangement in the diagnosis and evolution of chronic myeloid leukemia (CML). METHODS: The rearrangement of the bcr/abl gene was studied in 81 cases of which 34 corresponded to patients with CML (29 Ph' positive chromosome, 2 Ph' negative chromosome and 3 without karyotype), 2 patients with Ph' positive acute lymphoblastic leukemia, 15 patients with chronic myeloproliferative syndromes different from CML and 30 controls. Of the patients with CML, 6 were reevaluated when a blastic crisis was developed, 2 after receiving interferon treatment and 1 following allogeneic bone marrow transplantation. The technique used was that of Southern blotting using the restriction enzymes Bgl II and BamHI and the transprobe. RESULTS: Rearrangement of the bcr/abl gene was observed in all the patients with CML except in one with Ph' negative chromosome. In the remaining cases bcr/abl rearrangement was not observed. CONCLUSIONS: The Southern blotting technique for the study of the bcr/abl gene rearrangement is a sensitive and specific method in the diagnosis of chronic myeloid leukemia constituting a valid alternative to chromosomic study when this cannot be carried out or is not conclusive. It may also be used for the control of treatment in chronic myeloid leukemia.

Adult↗
PubMed1993

Usefulness of the rearrangement of the bcr/abl gene in extramedullary (lymph nodes) blast crisis diagnosed in chronic myeloid leukaemia.

The introduction of molecular biological techniques in the study of chronic myeloid leukaemia (CML) allows us to show the bcr/abl gene rearrangement produced by the translocation between the c-abl proto-oncogene located in chromosome 9 and the bcr region located in chromosome 22, which constitutes the molecular alteration of Philadelphia chromosome in CML. We present the usefulness of the bcr/abl gene rearrangement study in the diagnosis of a blast crisis initially located in lymph nodes of a patient with CML. The DNA analysis allows demonstration that the lymph node neoplastic cells originate from the clone responsible for the CML, while obtaining metaphases from a lymph node for the cytogenetic study gives rise to enormous difficulties and is practically impossible if the problem is studied retrospectively based on frozen or fixed samples.

Blast Crisis↗
PubMed1993

Interferon alpha 2A in the treatment of chronic myelogenous leukemia in chronic phase. Results of the Spanish Group.

Fifty-one patients with CML in chronic phase, less than two years after diagnosis, were included in one multicentric study aiming to assess the therapeutic value of interferon alpha 2a (IFN alpha 2a) in this setting. The therapeutic scheme was biphasic: The patients were first treated with hydroxyurea, and afterwards only received IFN alpha 2a, at a planned dose of 5MU/m2/day, s.c. Thirty-eight patients (81%) achieved an hematologic response, which was complete in 57% of the total group. The median time to response was of 42 days. In the last evaluation, a complete hematologic response was sustained in 21 patients (47%). Philadelphia suppression was obtained in 44% of the patients who achieved hematologic responses; major cytogenetic responses were obtained in 16% of the patients. The patients who obtained genetic responses were significantly younger and had a shorter interval from diagnosis to IFN than the patients who did not respond. At the moment of evaluation, 90% of the patients are alive, but the median follow-up of the series (217 days, range 21-1150) is too short to analyze any impact of IFN over survival. Six patients (12%) discontinued IFN because of toxicity, three of them because of severe flu-like syndrome. Leukopenia and thrombocytopenia were frequent, but rarely severe. Hypertriglyceridemia has been a very frequent finding.

Adolescent↗
PubMed1992

Ph-positive chronic myeloid leukemia with t(8;21)(q22;q22) in blastic crisis.

A patient diagnosed with chronic myeloid leukemia was studied periodically during his illness. The result showed the presence of a Philadelphia (Ph) chromosome by a 9;22 translocation as a single abnormality to the time of blastic crisis. At that time, the chromosome studies showed a clonal evolution. Furthermore, a second derivated line was added to the Ph line. This new anomaly consisted of a 8;21 translocation, considered as specific of M2 type acute nonlymphoblastic leukemia of French-American-British classification.

Adult↗
PubMed1992

[Treatment with interferon alfa-2a in the chronic phase of Philadelphia-positive chronic myeloid leukemia].

PURPOSE: To evaluate the cytologic and cytogenetic response attained with interferon alpha-2a (IFN, Roferon*A) in patients with Ph '-positive chronic myelogenous leukaemia (CML) in the chronic phase. MATERIAL AND METHODS: A prospective study was carried out on 22 CML patients diagnosed in the Haematology Service at the Princesa Hospital in Madrid. The therapeutic regime consisted of two phases: A) Hydroxyurea was given until the white-cell count was reduced to 15-20 x 10(9)/L. B) Roferon*A was then given subcutaneously at a doses of 5 MU/m2 per day. The follow-up was performed weekly, and monthly once the leucocyte count had stabilized. The cytologic and cytogenetic response was assessed by bone marrow aspiration performed after 6, 9, 12 and 18 months. The toxicity was evaluated in accordance with the WHO recommendations. RESULTS: The median follow-up is 263 days (21-930). Thirteen patients (65%) had initial complete haematological response and 3 (15%) had partial response. The mean time to achieve response was 42 days (0-321). In the last evaluation, 69% of the patients were in sustained haematological remission (53% complete and 16% partial) with median follow-up of 232 days (21-930). The cytogenetic response was evaluable in 13 patients (follow up > or = 6 months): three attained complete response (23%) and three others partial response (23%). The commonest untoward effects were hypertriglyceridaemia (100%) and myelosuppression (86%). Grade-III thrombocytopenia was seen in 19% of the patients and grade-III anaemia or leucopenia in 5%. No infectious or haemorrhagic complications have appeared. Therapy was discontinued in 3 patients (14%), two due to severe flu-like syndrome and one for parkinsonism after 809 days of treatment. At the moment of evaluation two patients had died, one in lymphoid blastic crisis on day 217 and the other in the immediate post-BMT period. CONCLUSION: Treatment with interferon-alpha 2A is useful in the chronic phase of CML. An important number of responses can be attained, even in patients in the late chronic phase, and the toxicity seems acceptable.

Adolescent↗
PubMed1992

[Use of a chromosome 21 gene library in the identification of a marker chromosome in chronic myeloid leukemia].

The non-isotopic in situ hybridization makes it possible the analysis of, both, numeric and structural chromosome aberrations in interphase nuclei. Moreover, this technique is useful for identification of chromosome markers of unknown origin, frequently present in malignant diseases. In our case, the fluorescent in situ hybridization allowed us, in a CML patient in accelerated phase, to know the origin of a chromosome marker, and then, to state that the patient had a 21 trisomy added to the Philadelphia chromosome.

Blast Crisis↗
PubMed1991

Unusual translocations and other changes in acute leukemia.

We report three cases of ANLL and one case of ALL in which we found chromosome abnormalities not previously described. The first patient had a (9;11;16)(p22;q23;p13) translocation in the relapse after bone marrow transplantation. In the second case, a secondary leukemia following a Wilms' tumor, there was a single chromosome anomaly, an inversion of chromosome 13. The third case also presented an isochromosome 13q. In the fourth patient we observed a translocation between two achrocentric chromosomes, as in the third patient, but not of the Robertsonian type: t(21;21)(q22.1;q22.5).

Adolescent↗
PubMed1991

Interferon alpha treatment of accelerated-phase chronic myeloid leukemia in relapse after bone marrow transplantation: a case with complete cytogenetic and molecular remission.

We describe here a patient with Philadelphia-positive chronic myeloid leukemia who had a hematologic and cytogenetic relapse after bone marrow transplantation. A diagnosis of accelerated phase was made when an additional malignant clone was detected. This clone was probably derived from the primitive Philadelphia clone, with duplication and rearrangement of the Philadelphia chromosome. The patient was treated with interferon alpha 2a and experienced a complete cytogenetic and molecular remission, with full reconstitution of the donor marrow.

Bone Marrow Transplantation↗
PubMed1990

[Chromosomal changes in 60 patients with acute myeloblastic leukemia. Frequency, characteristics and prognostic significance].

Sixty patients diagnosed of acute myeloblastic leukaemia (AML) on whom a chromosomal study was performed at diagnosis were evaluated. Their median age was 43 years (range: 8-89). Normal karyotype was present in 59% of the cases, it being abnormal in the remaining 41%. Chromosomal alterations appeared in 64% of the patients with M-4 morphology, in 43% of M-5, 40% of those with M-1, 33% of the M-2, and in 14% of the cases with M-3 morphology. The two patients with M-6 had abnormal karyotype. No correlations could be established between normal or abnormal karyotype and the clinical or laboratory data. Structural alterations were commonest amongst the patients with abnormal karyotype. Such alterations included t(8; 21), t(9; 22); t(7; 22), del 11q23, inv 16 (p13;q22), plus multiple major abnormalities in the M-6 patients. A strikingly low incidence of t(15; 17) was found in the acute promyelocytic leukaemia cases. Two chromosomal alterations not previously reported in AML were found in this series, namely, inv 13 (p11;q32) and t(21;1) (q22;q22). The finding of an abnormal karyotype had no unfavourable influence on the complete remission (CR) rate, which reached 65% of the patients with normal karyotype and 81% of those with abnormal karyotype. No differences were found in the duration of CR in this connection (80 and 77 weeks, respectively). Despite the lack of definite prognostic significance, the study of the karyotype appears as an important information in the diagnosis of AML.

Adult↗
PubMed1989

[Multicentric abdominal angiofollicular hyperplasia: a clinical variant with exclusive involvement of the liver and abdominal lymph nodes].

Three patients with a non-malignant lymphoproliferative disease involving liver and abdominal lymph nodes, without peripheral lymphadenopathy, are presented. They had systemic symptoms, fever and/or arthralgia, a biochemical pattern of liver obstruction and signs of B-cell immune hyperactivity (hypergammaglobulinaemia and different autoantibodies). Abdominal lymph node enlargement was found on laparotomy; the lymph node histologic pattern was that of angiofollicular hyperplasia (AFH), malignant lymphoma being discarded. Several stages of involvement were present in all cases, made up of small lymphocytes, plasma cells, and centrofollicular cells forming portal nodules with cholangiole infiltrates in one case which gave rise to a lymphoepithelial lesion. Steroid therapy was effective in all cases, but the symptoms and the liver obstruction relapsed in two patients after steroid suppression. Persistent functional anomalies of B and T lymphocytes were present in all cases. No evidence of viral disease was seen. These patients form a clinicopathological variant of multicentric AFH on whom malignant lymphoma could be excluded only by the histological study of abdominal lymph nodes. The persistence of lymphocytosis (although polyclonal and lacking cytogenetic alterations) may suggest the possible evolution into true and malignant lymphoma in any case.

Abdomen↗