Biomedical subjects
Publications and source records attributed to S Woessner.
We report a case of multiple myeloma with a t(8;22)(q24;q11) found during the progression of the disease. The relation between the association of a Burkitt's type translocation with cytological characteristic features is presented. To our knowledge, there is no report of a multiple myeloma with t(8;22)(q24;11).
We present a cytogenetic study of a case of primary plasma cell leukemia (PCL) whose plasma cells were cultured in vitro with different mitogens. Cytogenetic studies demonstrated a reduction of the genome, monosomy of chromosomes 8, 13, and 22 being the most frequent. Neither structural changes nor marker chromosomes were observed. The hypodiploid karyotype was confirmed and confined to the neoplastic clone (lambda positive cells) by the MAC (Morphology, Antibody, Chromosome) method, which allows a simultaneous study of chromosomes, cell morphology, and immunologic phenotype. Stimulating the culture of plasmocytes in vitro with IL-6 + PHA, only normal metaphases could be obtained; on the other hand, a large number of abnormal metaphases were observed with the use of LPS as a mitogen. A surprisingly high yield of metaphases was obtained in this case, contrary to the rule in the in vitro growth of plasmocytic proliferations. Possible explanations of this fact are considered.
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We report a case with refractory anaemia terminating in an acute leukaemia, which showed from the very beginning an intense eosinophilia that lasted for the whole disease, and in which the eosinophilic metaphases, as documented by the 'Morphology, Antibody, Chromosome' technique, were normal. An unusual karyotypic anomaly in the setting of a myelodysplastic syndrome could only be detected in the neutrophilic series. A general approach to detect structural aberrations of specific human chromosomes in metaphase cells by chromosomal in situ suppression hybridization of DNA libraries from sorted human chromosomes has been applied for chromosomes 11, 3 and 2, in order to identify an extra copy of chromosome 2.
We investigated the expression of the lymphocyte function associated (LFA)-1 adhesion molecule, recognized by the CD11a and CD18 monoclonal antibodies, in 53 patients with B-cell chronic lymphocytic leukemia (B-CLL) and in 37 controls. The mean percentage of control lymphocytes expressing CD11a and CD18 positivity was 92 +/- 5.5 and 90 +/- 8.7, respectively and, in patients with B-CLL, 14.2 +/- 10.3 and 14.8 +/- 10.3 respectively (p < 0.001). No statistical difference was found between CD11a and CD18 expression and the Rai clinical stages. In our experience a decrease of LFA-1 is a constant finding in B-CLL, in the early stages of the disease. It may, therefore, be useful to differentiate between slight increases of neoplastic cells and reactive blood lymphocytosis.
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We report four patients with myelodysplastic syndrome (MDS) with isochromosome i(17q) as the sole chromosomal anomaly. One patient was classified as refractory anemia (RA) and three as refractory anemia with excess of blasts (RAEB). All four patients shared several features such as male sex, advanced age, severe anemia, as well as a bone marrow with myeloproliferative characteristics: hypercellularity, prominent baso- and eosinophilia, and marked increase of micromegakaryocytes. We suggest that patients with i(17q) as the sole chromosomal anomaly may identify a distinct MDS with characteristics between MDS and chronic myeloproliferative disorders (CMPD).
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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.
PURPOSE: Splenic lymphoma with circulating villous lymphocytes (SLCVL) is a rare chronic B-type lymphoproliferative disorder, few series having been reported thus far. The major clinical, cytological, immunophenotypic and ultrastructural features, as well as the course and treatment of six cases seen in three hospitals of the Barcelona area in six years are reported herein. METHODS: The criteria of Melo et al were followed for the diagnosis of SLCVL. The clinical manifestations at onset and the morphology of lymphocytes from blood and bone-marrow (aspiration and biopsy samples) were analysed. The samples were subjected to cytochemical (acid phosphatase and L-tartaric acid inhibition), immunophenotypic (alkaline immunophosphatase and immunofluorescence) and ultrastructural studies. The histologic study of the spleen of those patients who underwent splenectomy was also performed. RESULTS: The median age of the series was 63 years (range: 45-86). Five of the patients were women. Anaemia was the commonest clinical finding at onset, and splenomegaly was found in all cases. Villous lymphocytes were found in both peripheral blood, 3% to 85%, and bone-marrow, 31% to 70%; they showed diffuse positivity to acid phosphatase stain, this being inhibited in all cases by L-tartaric acid. None of the patients had associated monoclonal gammopathy. Bone-marrow biopsy was performed in five occasions, showing nodular infiltrative pattern in three cases, interstitial in one and diffuse pattern in another. Nodular infiltration was seen in the white pulp of spleen, with no involvement of the red pulp. The ultrastructural study of villous lymphocytes from peripheral blood or bone-marrow disclosed short, slim villi with narrow bases, no lamellar ribosomal complexes being found. Mature B-type lymphocyte proliferation was present in all instances, showing positivity for surface immunoglobulin; monoclonal antibody CD25 was negative in all cases. Three patients underwent splenectomy, and the remainders received no treatment. The expected survival at three years was 80%. CONCLUSIONS: SLCVL is a rare B-cell chronic lymphoproliferative disorder with recognised morphologic and immunophenotypic characteristics that make it distinguishable from other B-type lymphoproliferative diseases especially hairy cell leukaemia. Its clinical course is chronic and it has good prognosis. Response to splenectomy is usually favourable, although remission of the disease is not achieved.
We present the cytogenetic study of 4 patients diagnosed of splenic B-cell lymphoma with villous lymphocytes. In such patients, it is noteworthy the chromosomal abnormality, del(7)(q32), found in two cases (in one as a sole chromosomal abnormality).
A method of in situ hybridization with entire chromosome-specific DNA libraries for visualizing individual human chromosomes has been developed and applied to the detection of structural aberrations in both metaphase and interphase cells. Unlabeled human genomic DNA is used to inhibit the cross-hybridization of repetitive sequences in the library that bind to multiple chromosomes. The remaining single-stranded DNA is hybridized to specimens of interest and detected with fluorescent or enzyme labeled biotin conjugates following post-hybridization washes. This general approach is called "chromosome painting" or "chromosomal in situ suppression (CISS)" hybridization. In the present report, DNA inserts from recombinant libraries from chromosomes 1, 4, and 9 has been applied on controls and patients in order to decorate specifically their complementary chromosomes. Numerical changes, deletions and chromosomal translocations involving these chromosomes can be strikingly visualized.
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We studied the association between myelodysplastic syndromes (MDS) and malignancies in a cohort of 155 patients with MDS, 21 of whom presented malignant solid tumors. Myelodysplasia was present after the diagnosis of cancer in eight patients (interval between the diagnosis of both conditions 18 months, median survival 49.5 months), simultaneously with diagnosis in 11 (median survival 8 months), and before malignancy in two patients (interval between the diagnosis of both conditions 47 and 7 months). One patient was given chemotherapy for lung cancer, and three patients received radiotherapy for adenocarcinoma of the kidney and cancer of the prostate. At the time of diagnosis of MDS, nine patients already presented metastatic spread. Fourteen patients died, ten as a result of tumor-related complications and four because of transformation to acute nonlymphocytic leukemia. The analysis of the incidence of malignancy in patients with MDS was statistically significant for males, and the relative risk was significant in both sexes. The results of this study show that MDS patients present a higher incidence of malignant tumors than the general population, that MDS may be of real paraneoplastic significance, and that the occurrence of MDS in cancer patients may be considered to be related to the malignancy rather than an independent phenomenon.
Information about the expression of some myelomonocytic markers in lymphocytes of patients with B-CLL is scarce. We studied the CD13, CD14, CD11c and CD68 surface antigens in 42 controls and in 38 patients with B-CLL to detect their possible reactivity. Eighty-nine percent of B-CLL expressed very strongly the CD14 antigen; on the contrary, the other myelomonocytic antigens tested were very weakly expressed. Forty-one of 42 controls showed a few CD14-positive lymphocytes with a statistical difference between normal and CLL lymphocytes. No statistical difference was recorded either between CD14 expression and Rai's staging system or Binet's stages, nor between CD14 and bone marrow involvement and doubling time or between CD14 and heavy or light chain expression. A minor B lymphocytic subset in humans coexpresses the CD14 and CD5 antigens, it being increasingly speculated that B chronic lymphocyte leukaemias originate precisely from this B CD5- and CD14-positive cells. Just as the CD5 antigen is regarded as an excellent B-CLL marker, it seems to us that a strong expression of the CD14 antigen might have the same diagnostic relevance.
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.