Establishment and characterization of a new cell line (VHB-1) derived from a primary breast carcinoma.

A continuous line of human breast carcinoma cells, VHB-1, was established in culture following collagenase treatment of an infiltrating duct cell carcinoma. The cells displayed an epithelial pattern and multiplied rapidly. Maintained in monolayer culture, the VHB-1 cells exhibited a 30-h doubling time and a plating efficiency of 20%. The cells possessed an abnormal karyotype with a mode of 70-74 chromosomes per cell. The karyotype was heavily rearranged and numerous marker chromosomes were found. Transplantation of the cells into nude mice produced tumors bearing histological resemblance to the original material. The VHB-1 cells contained significant levels of prolactin receptors, were steroid hormone (estrogen, progesterone, androgen, glucocorticoid) receptor positive, and were capable of functional differentiation in vitro. These characteristics make the VHB-1 cell line a suitable model for studying the biological properties of human breast tumors.

Acute monocytic leukemia with (8;22)(p11;q13) translocation. Involvement of 8p11 as in classical t(8;16)(p11;p13).

A new case of acute monocytic leukemia observed in a 73-year-old male (ANLLM5) with an unusual t(8;22)(p11;q13) is reported. The blasts did not demonstrate erythrophagocytosis, but the presence of both naphthol-ASD-chloro-acetate esterase and butyrate esterase activities was similar to that seen in cases with t(8;16)(p11;p13). Involvement of the 8p11 region in ANLLM4 and M5 is discussed, being the third most frequent rearrangement in acute leukemia with monocytic components seen at our Center.

Chronic myelogenous leukemia with t(9;22) and t(8;11): a new chromosome anomaly.

A case of chronic myelogenous leukemia in an elderly man with a new translocation, t(8;11)(q24;q13), associated with a Philadelphia t(9;22) translocation is described. The clinical and hematologic aspects of the disease did not seem to differ from those of the usual cases of chronic myelogenous leukemia except for a basophilic blast crisis.

Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia. A possible association with acquired pseudo-Pelger-Huët anomaly and small vacuolated granulocytes.

Twelve patients [two with de novo myelodysplastic syndrome (MDS), four with secondary MDS, five with de novo acute nonlymphocytic leukemia (ANLL), one with secondary ANLL] showed a 17p deletion resulting from translocations involving 17p: t(5;17)(p11;p11) in four cases, t(7;17)(p11;p11) in six cases, complex (5;17)(q23;p12) translocation with dicentric chromosome in one case, and t(17;?)(p11-12;?) in the remaining patient. All these structural anomalies were observed in hypodiploid clones associated with total or partial monosomy of chromosomes 5 and 7 (12 cases), monosomy 12 (five cases), monosomy 3 (four cases), and monosomy 4 (three cases). Median survival was only 3.3 months (range 3 days to 8 months). Striking features were observed in bone marrow mature granulocytes: all but one case had a pseudo-Pelger-Huët anomaly in a significant number of granulocytes, and eight patients had granulocytes with reduced size and clear cytoplasmic vacuoles. Careful cytological review of 51 patients with MDS or ANLL and various cytogenetic anomalies was performed for comparison: vacuolated granulocytes were a very uncommon finding. On the other hand, eight patients had a pseudo-Pelger-Huët anomaly, which correlated significantly with total monosomy 17 in these patients. A possible correlation between cytological anomalies and cytogenetic data is discussed, and the role of 17p in the nuclear segmentation of granulocytes is stressed.

Acute lymphocytic leukemia with 9p anomalies. A report of four additional cases and review of the literature.

Childhood acute lymphocytic leukemia (ALL) with partial deletion of the short arm of chromosome 9 (9p-), particularly in the p21-22 region, associated with bulky disease, has been regarded as a possible subgroup of ALL. We have reviewed clinical and cytologic data in 128 cases of ALL (childhood and adult). Four of them had 9p anomalies. Two patients had a deletion in the 9p21 region associated with another deletion (9p13----pter) in one case and with t(1;19)(q21;p13) in the second patient. A third patient had a t(9;14)(p21;q12) balanced translocation associated with 14q22----qter deletion; the last patient showed a t(5;9)(p14;q21) unbalanced translocation also associated with 14q deletion. All four patients had lymphomatous ALL, but immunophenotype was non-T, in the four cases, (non-T, non-B in two patients and common ALL in the two remaining cases). Acute lymphocytic leukemia with 9p anomalies appears relatively frequently and is usually associated with poor prognostic features (i.e., bulk disease and high leukocyte counts) but does not seem restricted to childhood and T-cell lineage.

Translocation (1;7) in a case of secondary chronic myelomonocytic leukemia.

A case of secondary chronic myelomonocytic leukemia with t(1;7)(p11;p11) is reported. This patient had been treated without interruption with chlorambucil for multiple sclerosis since 1970. The t(1;7), to our knowledge, is the first described in secondary chronic myelomonocytic leukemia.

Promyelocytic blast crisis of Philadelphia-positive thrombocythemia with translocations (9;22) and (15;17).

We report a promyelocytic blast crisis in a case of Ph-positive thrombocythemia with both t(9;22) and t(15;17). Our patient confirms the specificity of t(15;17) in malignant proliferation of promyelocytes and suggests its appearance as a second genetic event in the genesis of blast crisis occurring in a Ph-positive clone.

Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup?

In three cases of acute nonlymphocytic leukemia we observed a translocation (8;16)(p11;p13); in one case it was the sole karyotypic change and in the other two cases it was associated with other structural anomalies. All three cases were nonhyperleukocytic myelomonocytic leukemias with erythrophagocytosis by some blast cells and cytochemistry results consistent with leukemic proliferation of a common monocytic-granulocytic precursor. The importance of this translocation is discussed, and the implication of band 16p13 in myelomonocytic leukemia is stressed.

Translocation t(1;19)(q23;p13) in acute lymphoblastic leukemia. A report on six new cases and an unusual t(17;19)(q11;q13), with special reference to prognostic factors.

We report clinical, immunologic, and cytogenetic characteristics of six patients with a t(1;19)(q23;p13) that was balanced in one case and of the unbalanced type [-19,der(19)t(1;19)(q23;p13)] in the remaining five cases. Intracytoplasmic immunoglobulins (cIg) were positive in the three cases where they were found. We also report on another patient, with a t(17;19) involving 17q11 and probably 19q13 regions, although involvement of 19p13 could not be excluded. In this patient, cIg were also present, thus raising the issue of whether such a rearrangement could be a variant of t(1;19). Clinically, five patients belonged to the high-risk acute lymphoblastic leukemia (ALL) group, because of high leukocytosis, central nervous system (CNS) disease at presentation, or massive organomegaly. Cytologically, all cases were FAB type L1. Except for the two cases allografted in the first complete remission (CR) all patients relapsed, three of them within 13 months. Two CNS relapses were seen in spite of adequate CNS prophylaxis. ALL with t(1;19) appears to be a poor-risk ALL subgroup and probably requires a reinforcement of therapeutic modalities that might include, when possible, allografting at first CR.

Translocation t(10;17)(p13;q12) in two cases of acute nonlymphocytic leukemia with phagocytic activity of blasts. A new cytogenetic entity?

We report two cases of translocation t(10;17)(p13;q12) found in a series of 278 cytogenetically studied acute nonlymphocytic leukemia cases. Blast cells, in both cases, were undifferentiated and had phagocytic properties. These patients might represent cases of a new cytogenetic entity.

Chronic myeloid leukemia with unusual variant Ph translocation (22;22)(q11;q13). Two cases with chimeric BCR-ABL transcripts.

We studied two cases of chronic myelogenous leukemia (CML) with unusual variant Philadelphia (Ph) translocation (22;22)(q11;q13). Southern blot analysis showed a chromosomal break in the BCR gene within the 5.8-kilobase (kb) breakpoint cluster region (bcr), between bcr exons 2 and 3 and between bcr exons 3 and 4, respectively. Chimeric bcr-abl mRNA was detected using polymerase chain reaction (PCR) which amplified, according to the respective bcr breakpoints, bcr exon 2-abl exon II and bcr exon 3-abl exon II junction products. These results further support the involvement, even when not cytogenetically detectable, of the 9q34 chromosomal region in all variant Ph translocations and that BCR-ABL gene fusion products are causally involved in the development of Ph positive CML.

Chromosome studies in human lymphocytes after in vitro exposure to metal salts.

The toxic concentration of different heavy metal salts was determined in normal stimulated human lymphocyte cultures and was found to be 3 X 10(-3), 1 X 10(-2) and 5 X 10(-4) for zinc chloride, lead acetate and cadmium chloride respectively. Furthermore 3 subtoxic doses of each salt (2, 10 and 100 times less than the toxic dose) were added to 48- and 72-h cultures at 0 h and 24 h after initiation. Chromosome preparations were made and 100 well spread metaphases from each culture were analysed for the presence of numerical and structural aberrations. The most common aberration found for all tested metal salts was the occurrence of chromosome fragments. Dicentric chromosomes were only recorded in lymphocyte cultures treated with the lowest concentration of zinc chloride (3 X 10(-5) M) added at time 0, regardless whether the cultures were fixed after 48 or 72 h.

[Karyotype of peripheral blood lymphocytes in patients treated for Hodgkin disease]. / Le caryotype des lymphocytes sanguins périphériques des hodgkiniens traités.

Peripheral lymphocyte chromosomes were analyzed in 55 consecutive patients with complete remission after treatment for Hodgkin's disease. In 8 patients, observed metaphases were too few in number. The other 47 patients, 29 men and 18 women, had been off all therapy for 53 months (median 41, ext. 1 to 250 months). The mean interval since the diagnosis was 78 months (median: 73 months) and the mean age at the time of chromosome analysis was 38 years (median: 34, ext. 10-78 years). No patient had either a preleukemic syndrome or leukemia. In contrast to karyotypes in normal controls and previously untreated patients, abnormal cells, hypodiploid, hyperdiploid and tetradiploid cells were more frequent. But neither monosomy 5 or 7 nor trisomy 8 were observed. Intrachromosomal rearrangements (gaps, breaks...) were significantly more frequent (12% vs 5% in untreated patients) particularly on chromosomes 1 and 2. Interchromosomal rearrangements were also numerous (1,25%) but no cells showed any specific translocation for malignant hemopathy. Chromosomal aberrations do not seem closely associated with treatments but influenced by the post-diagnosis interval and the factors present at the time of primary treatment.

[Subacute pre-eclampsia and hydramnios as manifestation of fetal triploidy. In utero diagnosis in the 28th week]. / Pré-éclampsie et hydraminos subaigu révélateurs d'une triploïdie foetale. Diagnostic in utero à la 28 semaine.

The authors report a case of triploidy that was diagnosed in utero by amniocentesis at the 28th week of amenorrhoea which presented with a classical picture of sub-acute hydramnios and pre-eclampsia and a dermoid cyst in the pelvis below the uterus. This case has given us a chance of showing the clinical evolution that led us to carry out amniocentesis and make the diagnosis of triploidy. A review of the literature gives us the chance of showing the incidence of triploidy and its genetic origin and the characteristics that this chromosome abnormality produces. The value of the study is to show the differences that exist between this condition and partial molar triploidy demonstrating the anatomo-pathological, genetic and developmental changes that can be recognized. The conclusion that this article reaches could be that the term "triploid embryonic mole" should be abandoned because it brings under one heading two quite different pictures.