Soledad Woessner

Frequent involvement of chromosomes 1, 3, 7 and 8 in splenic marginal zone B-cell lymphoma

We have studied 19 cases of splenic marginal zone B‐cell lymphoma (SMZBCL) combining cytological features, conventional cytogenetics, and in situ hybridization (ISH) techniques.

Cytogenetic studies in 112 cases of untreated myelodysplastic syndromes

Cytogenetic studies were performed in 112 untreated cases of myelodysplastic syndrome (MDS) between 1985 and 1990. Among 112 patients who were examined at the time of diagnosis, 54 had an abnormal karyotype (48%). The highest frequency of chromosome abnormalities was observed in refractory anemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-t) and the lowest in refractory anemia with ring sideroblasts (RARS) and chronic myelomonocytic leukemia (CMMoL). Numerical changes were observed in 19 cases and structural in 17; chromosome 8 was most frequently gained (11 cases), whereas chromosome 7 was most frequently lost (6 cases), 5q- in 14 (4 as a sole anomaly); involvement of 7q22 was seen in 3 cases, 11p in 2 patients, 11q in 3 (one patient as a sole anomaly), 12p in 4 (2 patients as a sole anomaly), i(17q) in 4 (3 patients as a sole anomaly), and complex chromosomal defects in 10 patients. If one takes into account the prognosis value, a complex karyotype and the presence of ring chromosomes were correlated with the worst prognosis, followed by -7/7q-; an intermediate prognosis corresponds to i(17q), 12p as a sole anomaly, +8 (as a sole anomaly or plus other anomalies), and involvement of 12p. Patients with a 5q- as a sole anomaly or with a normal karyotype, had the best prognosis.

Translocation (11;14)(q13;q32) and Preferential Involvement of Chromosomes 1, 2, 9, 13, and 17 in Mantle Cell Lymphoma

We have studied 13 cases of histologically confirmed mantle cell lymphomas (MCL) combining cytological-immunological features with conventional cytogenetics and in situ hybridization (ISH) techniques. Peripheral blood smears and lymph node biopsies expressed the typical mantle zone pattern with alpha B-cell phenotype. Most of the cases (11 of 13) had lymphomatous cells in the peripheral blood. Chromosome analysis was carried out on lymphoid cells from peripheral blood and/or lymph node biopsies. Phytohemagglutinin (PHA) and phorbol 12-myristate 13 acetate (TPA) were used as mitogens. Biotin-labeled libraries of whole chromosomes implicated in complex karyotypes were used to improve their interpretation. Clonal chromosome abnormalities were found in 10 of 13 patients (77%); 7 of these had a complex abnormality. The most frequent recurrent structural abnormalities were: t(11;14)(q13;q32), involvement of chromosome 1 (der[1], del[1], dup[1]), chromosome 2 (del[2], der[2]), chromosome 9 (der[9], -9), chromosome 13 (add[13], t[13q]), and chromosome 17 (add[17], der[17], t[17q]). The most frequent numerical abnormalities were monosomy 21 and loss of the Y chromosome.

Incidence and characteristics of lymphoid malignancies in untreated myelodysplastic syndromes.

We have analyzed 1,198 patients with untreated myelodysplastic syndromes (MDS) with two main objectives: (1) to determine the prevalence of lymphoid malignancies (LM) in MDS patients; and (2) to ascertain whether there is some relationship between the MDS subtype and the LM type. In fourteen of 1,198 primary MDS patients (1%) (4 with refractory anemia, 3 with refractory anemia with ring sideroblasts, 2 with refractory anemia with excess of blasts and 5 with chronic myelomonocytic leukemia) a LM was detected. In all cases, the LM was of the B-cell type: 6 cases of chronic lymphocytic leukemia, 5 cases of lymphoplasmacytoid lymphoma, and 3 cases of multiple myeloma. B-cell malignancy did not prevail in any MDS subtype and no correlation was observed between the different varieties of both diseases. In conclusion, in this large series, 1% of the untreated patients with MDS had B-cell malignancy, an association that in most cases is likely to be merely coincidental.

Prolymphocyte Leukaemia of T‐Cell Type: Immunological, Enzymatic and Ultrastructural Morphometric Characteristics

Summary. A case of prolymphocytic leukaemia with immunological characteristics of T‐cell type is reported. Three noteworthy findings can be emphasized: the presence of C3 receptors on the T‐prolymphocytes, the study of the acid‐phospha‐tase isoenzymatic pattern, which showed an increased band 3 with absence of band 3b, and the morphometric ultrastructural investigation. Cytochemistry and ultra‐structural morphometry may be useful for a more precise characterization of prolymphocytic leukaemia and help to distinguish it from other lymphoprolifera‐tive disorders.

Cytogenetic studies in acute nonlymphocytic leukemia

Cytogenetic studies were performed in 74 untreated patients with acute nonlymphocytic leukemia (ANLL) between 1985 and 1988. Among 56 patients who were examined successfully at the time of diagnosis, 36 had abnormal karyotypes (64.2%). The distribution of chromosome abnormalities was uneven, according to the categories of the French-American-British (FAB) nomenclature. The highest frequency of chromosome abnormalities was observed in ANLL M4 with bone marrow (BM) eosinophilia (M4Eo). Numerical changes were observed in 11 cases; chromosome 8 was most frequently gained (11 patients), whereas chromosome 7 was most frequently lost (4 patients). Structural rearrangements were detected in 18 patients. Involvement of 16q22 was noted in 7 patients, 5q- was noted in 5, t(8;21) in 3, t(1;7) in 2, del(20) in 2, and involvement of 11q23 was noted in 2. The inversion of chromosome 16 was restricted to the M4Eo subtype. This study identified a novel abnormality [inv(2) (p11.2q11.2)] that had not been reported previously by other investigators.

A new chromosomal anomaly associated with mature B-cell chronic lymphoproliferative disorders: del(7) (q32)

Among 63 patients with chronic lymphoproliferative disorders (CLPD) studied cytogenetically in our laboratory, four showed a del(7)(q32); in two it was the sole cytogenetic anomaly and in two it was part of a complex karyotype. We suggest that despite the rarity of this anomaly, it could be related to CLPD.

Trisomy 12 is a rare cytogenetic finding in typical chronic lymphocytic leukemia.

We have studied 61 cases of B-chronic lymphocytic leukemia (CLL), combining cytological features, conventional cytogenetics and in situ hybridization (ISH). The comparison of these results constitutes the main subject of this study. The patients were cytologically classified according to the FAB criteria as: chronic lymphocytic leukemia (CLL) typical type (48 cases) and CLL atypical types (13 cases). Chromosome analysis was carried out on lymphoid cells from peripheral blood. The following mitogens were used: phytohemagglutinin (PHA) 5%, pokeweed (PWM) and lipopolysaccharide from E. coli. The ISH was performed with a biotin-labeled, chromosome 12-specific alpha satellite DNA probe, pSP12-1. Trisomy 12 was not found in any of the 48 patients with the typical type of CLL and in contradistinction it was present in some patients with atypical types. This study emphasizes the great importance of a closer link between hematological morphology and the cytogenetic approach.

A European consensus report on blood cell identification: terminology utilized and morphological diagnosis concordance among 28 experts from 17 countries within the European LeukemiaNet network WP10, on behalf of the ELN Morphology Faculty

This paper describes the methodology used to develop a consensual glossary for haematopoietic cells within Diagnostics‐WP10 of European‐LeukemiaNet EU‐project. This highly interactive work was made possible through the use of the net, requiring only a single two‐day meeting of actual confrontation and debate. It resulted in the production of a freely accessible tool that could be useful for training as well as harmonization of morphological reports in onco‐haematology especially, without geographic limitation, not limited to European countries. Moreover, this collective work resulted in the production of a consensus statement, taking into account individual practices, collegial agreement and literature data.

Circulating erythroid and megakaryocytic progenitors in polycythaemia vera and essential thrombocythaemia

We studied the behaviour in culture of erythroid and megakaryocyte progenitor cells (BFU‐E, CFU‐MK) obtained from peripheral blood (PB) in 38 patients: 15 with essential thrombocythaemia, 3 with reactive thrombocytosis, 16 with polycythaemia vera and 4 with secondary polyglobulia. Clonal erythroid growth without added erythropoietin was observed in all patients with polycythaemia vera and in 5 out of 15 with essential thrombocythaemia, but in none of the patients with reactive thrombocytosis or secondary polyglobulia or in controls. When the CFU‐MK were cultured without phytohaemagglutinin‐stimulated medium (PHA‐LCM), all patients with essential thrombocythaemia and 7 out of 16 with polycythaemia vera showed circulating CFU‐MK but none of those with reactive thrombocytosis or secondary polyglobulia or controls did so. This study indicates that the growth in vitro of megakaryocyic and erythroid progenitors from such a readily available source as peripheral blood can be valuable in the diagnosis of certain borderline cases of thrombocytosis or erythrocytosis.