Maria Helena Ornellas de Souza

Cytogenetic analysis of 100 consecutive newly diagnosed cases of acute lymphoblastic leukemia in Rio de Janeiro.

We report the cytogenetic analysis of newly diagnosed Brazilian children with acute lymphocytic leukemia (ALL). We investigated 100 ALL cases from four different institutions in Rio de Janeiro. The frequency of chromosomal abnormalities was 92.3%. The karyotype profile and recurrent abnormalities found in this study do not differ essentially from those described by other groups. Although the Brazilian population is usually the product of different ethnic groups, our results show that the frequency of each recurrent abnormality is similar to that found in populations without our degree of diverse ethnic composition. Hence, our results suggest that childhood ALL in Brazil has the same biological features as that in developed countries, supporting the use of similar treatment protocols. We can therefore expect to reach the same survival rates in the coming years, depending possibly on the efficacy of the support therapy and extent of social assistance.

Cytogenetic and immunophenotypic evidence of independent clonal origins of concomitant chronic lymphocytic leukaemia and acute myeloid leukaemia

To the Editor: Although chronic B-cell leukaemia (B-CLL) is the most common leukaemia in the Western world, the association of CLL and acute leukaemia (AL) is a rare event. The presentation of acute myeloid leukaemia (AML) concomitantly with CLL is unusual and, so far, only 16 cases have been described (1). In the most of these cases the characterization of the diseases has been made by morphology and immunophenotyping studies (1–4), and only in two cases was a cytogenetic study carried out (5, 6). We report a case with the simultaneous occurrence of CLL and AML without previous exposure to a cytotoxic agent or irradiation. Immunophenotyping and cytogenetic studies were performed, and the clonal origins of the diseases are discussed. A 70-yr-old Portuguese woman was hospitalized with a one-month history of daily fever (38–39 uC), gum bleeding, an episode of epistaxis and weight loss. Physical examination was significant for cervical and inguinal lymphadenopathy, gum hypertrophy, and an enlarged liver and spleen (6 and 3 cm, respectively). The patient also had high arterial blood pressure and congestive heart failure. The leukocyte count was 61,600 cells/mm with 31% blast cells and 59% lymphocytes. Five months before this admission her haemogram had been normal. A bone marrow (BM) aspirate revealed approximately 27% blast cells and 49% apparently mature lymphocytes. Cytochemical analysis revealed the blastic cells to be positive Sudan black. The great majority of cells were negative to PAS, and few cells were weakly positive; a-naphtyl butyrate was also negative. LDH measured 5261 UI. Immunophenotyping studies showed the presence of two cell populations with different light-scatter in BM. Large cells which corresponded to blast cells had an immature myeloid immunophenotype, (HLA-Dr, CD13, CD33, CD34), and small cells, corresponding to a mature B cell population, displayed a typical B-cell phenotype (CD19, CD5, HLA-DR, weak SMIg and K). ANLL-M2 was diagnosed. Hydroxyurea 1.5 g/d was started. The number of blast cells was reduced in subsequent days, although the total leukocyte count had increased due to an increase in the absolute number of lymphocytes (93,000 cells/mm in 5 d with 93% lymphocytes and 5% blasts). The patient died on the tenth day of hospitalization due to complications of both metabolic functions and infection. A pathologic leg fracture was also report-ed. The karyotype of bone marrow cells was obtained after cultures in RPMI 1640 with 20% foetal calf serum (Gibco) and pokeweed mitogen at 37 uC for 72 h. Cell cultures were pulsed with colcemid (0.06 mg/ml) in the last hour of incubation. Cells were subsequently harvested by standard procedures (hypotonic shock with 0.075 M KCl) and fixed in methanol–acetic acid (3:1). GTG banding was per-formed as described by Seabright (7), and chromosomes were identified and arranged according to the International System for Cytogenetic Nomenclature (8). The cytogenetic analysis showed the presence of two abnormal clones: 47,XX,+12 [10]/46,XX,del(5)(q31),t(8;13) (q22;q21) [4]/46,XX [6]. Although other cases of CLL associated with AML have been reported (1–6), the present study showed some peculiarities. There were no data suggesting the presence of AML after the diagnosis of CLL, since the patient had received no prior chemotherapy or radiotherapy and the haemogram obtained 5 months before had been normal. The cytogenetic study showed two abnormal clones, and as yet only two cases reporting concomitant CLL and AML included cytogenetic studies (5, 6). The patient described by Lima et al. (5) had chromosome aberrations commonly associated with CLL and AML in the same metaphases, suggesting that both diseases might be derived from a single cell clone. The cytogenetic analysis for the case reported by Mateu Eur J Haematol 2001: 66: 281–283 Printed in UK. All rights reserved Copyright # Munksgaard 2001

Clinical implications of natural killer cytotoxicity in patients with squamous cell carcinoma of the penis.

Impairment of natural cytotoxicity mediated by natural killer (NK) cells may play a role in the pathogenesis of penile carcinoma. The aim of this study was to examine the NK activity profile and its prognostic significance in patients with squamous cell carcinoma of the penis. The NK activity was measured in peripheral blood mononuclear cells (PBMCs) from 39 patients diagnosed histologically as having invasive squamous cell penile carcinoma and 4 patients with verrucous carcinoma of the penis. Of 39 patients with invasive squamous cell carcinoma, 4 had undergone previous penile amputation. According to the prognosis, the patients with invasive squamous cell carcinoma were divided into two groups: with metastasis and without metastasis. The patients were evaluated in relation to clinicopathologic variables using univariate analyses. NK cell activity was significantly decreased in all patients with penile carcinoma when compared with the control groups (p < 0.0001). There was no statistically significant difference between the groups with and without metastasis. We conclude that there is a decrease in NK activity in PBMCs from patients with penile carcinoma and that the presence of advanced disease or metastatic involvement is not responsible for this reduction.

Translocation of CD3D gene in an acute myeloid leukemia (M5) with t(11;17)(q23;21)

Cytogenetic studies in patients with acute leukemia showed structural abnormalities on chromosome 11 at band q23 in five cases. Four of these had acute lymphoblastic leukemia (ALL) associated with t(4;11)(q21;q23) and one case had acute nonlymphoblastic leukemia (ANLL) (M5) associated with t(11;17)(q23;q21). We examined the CD3D and c-ets-1 genes in the t(11;17)(q23;q21) patient to ascertain any association between them and the chromosome change. In situ hybridization results showed that unlike in other studied cases with rearrangements of 11q23, the CD3D gene in the t(11;17)(q23;21) is transposed to the der(17) chromosome, providing evidence for a different breakpoint in the 11q23 region.

Immunophenotypic analysis and evaluation of nutritional status in childhood acute lymphoblastic leukemia

Abstract The cure rate for childhood acute lymphoblastic leukemia (ALL)differs between developed and developing countries. In developingcountries there is a high prevalence of malnutrition thus it isimportant to evaluate the association between factors of nutritionand ALL prognosis, as well as to identify the prevalence ofimmunophenotypes and their association with nutritional status.Eighty-six children with acute lymphoblastic leukemia diagnosedin two universities in Rio de Janeiro were studied. The frequenciesof each immunological subtype were: common ALL 57%, pre-B9.3%; pro-B 8.1%; T-ALL 18% and biphenotypic ALL 7.0%. Itwas noticed that the typical incidence peak of common ALL isbetween 1 and 6 years old. The small number of malnourishedchildren did not allow statistical analysis to compare data betweenthe immunophenotype and nutritional status. For the same reason,a statistical approach comparing malnutrition status with com-plete remission and relapse rates was impaired. The relativeincidence of each immunological subtype was similar to thosefound in developed countriess. Rev. Bras. Hematol. Hemoter.2008;