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We report a new case of Ph positive chronic myeloid leukemia (CML) without the classical rearrangement in Mbcr. By Southern blot analysis the molecular breakpoint was mapped 3 to 8 kb upstream of Mbcr. This region has not been shown to be rearranged in any other described case of CML. We did not detect any specific abnormal BCR-ABL transcript even with the use of the very sensitive RNA-PCR technique.

The cytogenetic features and the proliferative and differentiation capabilities of blast cell fractions purified on a density gradient were studied in one patient with chronic myeloid leukemia (CML) in blast crisis, both at the emergence and at relapse of the disease. The results show that relapse was due to the appearance of a new leukemic cell line that was characterized by peculiar chromosomal, growth, and differentiation features, which seemingly accounted for early refractoriness to therapy and disease progression.

Cytogenetic studies were performed on the cells of bone marrow, peripheral blood, and skin tumor biopsies from a patient with mycosis fungoides at an early stage. Chromosome abnormalities were detected in 100% of the cells harvested from the cutaneous specimen, whereas the cells of the bone marrow and blood were karyotypically normal. Three related clones, showing increasing cytogenetic complexity, were found. Chromosome #12 was abnormal in all metaphases, and an abnormal 14q chromosome was present in a minority of cells belonging to the most complex emerging subclone. These data, along with the findings of important signs of chromosome imbalance, suggest a polyphasic evolution of this chronic T lymphoproliferative disease.

Eighty-nine patients who developed a secondary hematologic disorder and were studied with chromosome analysis were collected from nine institutions. The results of the study confirmed previous findings, in particular, -5/5q-, -7/7q-, -17, and +21 were the most frequently encountered aberrations. Moreover, a t(1;7)(p11;p11) was reported in four cases and consistent chromosome abnormalities were observed in a small group of patients who had been treated only with surgery, but not with chemo- or radiotherapy for a previous tumor.

Sixteen patients with paroxysmal nocturnal hemoglobinuria (PNH) from five European centers have been submitted to chromosome analysis. All of them had a normal bone marrow karyotype. The associations between some chromosomally abnormal cases reported in the literature and "typical" PNH or PNH phenomenon during the course of other hematological disorders are discussed.

Blood lymphocytes from 23 patients with B-cell chronic lymphocytic leukemia were stimulated with different mitogens (lipopolysaccharide from E coli, phorbol myristate acetate ester, Staphylococcus aureus, and phytohemagglutinin M form). Functional properties of stimulated cells (blastic transformation, mitotic index, cIg production, Ig secretion, and acid phosphatase positivity) were evaluated and correlated with the stage of disease and chromosomal findings. Early stages of the disease are characterized by a relatively homogeneous response to polyclonal B-cell and activators and by a restricted number of chromosomal aberrations. Advanced stages show a more heterogeneous pattern of response and a higher incidence of abnormal karyotypes suggesting an involvement of various subclonal lines.