Characterization of centromere alterations in liposarcomas.

Supernumerary ring and large marker chromosomes are a characteristic of atypical lipomas and well-differentiated liposarcomas (ALP-WDLPS) and are composed of amplified 12q14-15 sequences in association with variable segments from other chromosomes. Although stably transmitted, these chromosomes contain centromeric alterations, showing no detectable alpha-satellite sequences. We performed C-banding, fluorescence in situ hybridization, and immunostaining with anti-centromere antibodies in 8 cases of liposarcomas with supernumerary rings and large markers, including 5 ALP-WDLPS and 3 dedifferentiated-LPS and high-grade LPS.

Another case of t(17;22)(q22;q13) in an infantile dermatofibrosarcoma protuberans.

We have identified a new dermatofibrosarcoma protuberans (DP) case with a t(17;22) (q22;q13) occurring in a child. The translocation was substantiated by the presence of one or two copies of the sole der(22)t(17;22). This rearrangement added to two normal chromosomes 17 and one or two chromosomes 22, resulted in trisomy 22cen-q13 and trisomy (or tetrasomy) 17q22-25.

Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes.

We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3;12)(q26;p13) in the malignant cells from five patients with acute transformation of myelodysplastic syndrome or blast crisis of chronic myelogenous leukemia. t(3;12)(q26;p13) appears as a rare but nonrandom event present in various myeloid leukemia subtypes, which is frequently associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and a very poor prognosis. Here, we report the molecular cytogenetic analysis of the t(3;12).

Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: a new tumor-associated chromosome rearrangement.

A translocation, t(17;22)(q22;q13), was identified in two cases of dermatofibrosarcoma protuberans (DP). They bring to four the number of DP cases characterized by an identical t(17;22)(q22;q13), which can be considered as a new tumor-associated chromosome rearrangement. To date, this translocation has been found only in DP and its juvenile form, giant-cell fibroblastoma.

Rearrangement of proximal 11q13 band in a CMML in acute transformation.

Fluorescence in situ hybridization (FISH) was performed on bone marrow cells thought to contain a t(7;11)(p22;q13) from a patient with chronic myelomonocytic leukemia in transformation. FISH analysis using a panel of 10 probes previously mapped to 11q13 revealed a cytogenetically undetected complex rearrangement that involved chromosomes 7 and 11 as well as a chromosome 3 at band p24. Two distinct translocation breakpoints, both proximal to the BCL1 locus, were found in chromosome 11 that perforce separate it into three subregions.

Supernumerary ring chromosomes containing chromosome 17 sequences. A specific feature of dermatofibrosarcoma protuberans?

Mystery surrounds the mechanisms by which the uncommon cutaneous tumor dermatofibrosarcoma protuberans (DP) arises and progresses. A clue may be at hand in the form of extra abnormal chromosomes (one of three ring chromosomes per case with or without other chromosome abnormalities) seen in some 10 cases, including five cases in our experience. The specificity of the rings to DP would be enhanced if the rings were found to contain a contribution from a constant chromosome.

Recurrent cytogenetic abnormalities observed in complete remission of acute myeloid leukemia do not necessarily mark preleukemic cells.

We have undertaken the cytogenetic monitoring of 39 adult patients treated for de novo acute myeloid leukemia (AML) by intensive chemotherapy. We describe this monitoring in seven patients in continuous complete clinical and morphologic remission (CR) of AML. Although in CR, these patients exhibit the emergence of cytogenetically abnormal clones.

Dynamics of human sperm acrosome reaction: relation with in vitro fertilization.

Objective: Acrosomal status has been studied on human sperm prepared for in vitro fertilization (IVF) and related to the rate of fertilization.

Design And Patients: A group of 41 men with normal classical semen parameters, included in the IVF program of University of Nice for feminine tubal obstruction (n = 37) or unexplained infertility (n = 4), were evaluated in a prospective study and compared with a control group of 10 fertile donors.

Main Outcome Measures: Evaluation of acrosome status (spontaneous and A23187-induced acrosome loss) after 6 hours incubation in Ménézo's B2 medium was made by flow cytometry on suspended cells with a new immunofluorescence test recently reported by the authors based on a monoclonal antibody GB24.

[Prenatal diagnosis of a translocation (X;Y) and genetic counseling].

A cytogenetic prenatal diagnosis due to maternal age led us to find a male fetus with a (X;Y) translocation. This translocation is found in the mother, who presents no phenotypic abnormalities or mental retardation. The 22 cases described in the literature indicate that among male carriers of an (X;Y) translocation, half the cases present mental retardation and 2/3 phenotypic anomalies.

Variant translocation t(8;21;15) in an acute myeloblastic leukemia with phenotypic differential evolution.

A new case of a variant form of the translocation (8;21) in an AML-M2, including in addition involvement of chromosome #15 is reported. The selection of two abnormal lines, probably resulting from two successive rearrangements of the (8;15) translocated segment, is observed. It is suggested that these rearrangements change the cellular morphology and seem to play a part similar to additional autosomal abnormalities in the course of the disease, such as those found in CML.

HLA in families with Down's syndrome children.

Thirty couples having a DS child were typed for HLA-A and B antigens and compared to twenty control families and 176 blood donors. Although differences in frequency of B antigens exist between DS families and controls, they are not significant after correction for the number of antigens tested. No excessive HLA sharing was found in DS parents contrarily to two previous studies (Mattironi et al.

Triploidy with cyclopia and identical HLA alleles in the parents.

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX.

Neutral maltase: the first human B-cell enzymatic marker reflecting terminal differentiation of mature B cells into plasma cells.

Neutral maltase activity (alpha-D-glucoside glucohydrolase; EC: 3.2.1.

Distribution of neutral maltase activity in mononuclear cells from different human lymphoid organs.

Neutral maltase activity has been determined in purified monocytes, T and B lymphocytes from human peripheral blood and major lymphoid organs. In peripheral blood as in all lymphoid organs studied, neutral maltase activity was found to be significantly higher in monocytes than in B lymphocytes. Neutral maltase activity was never detected in T lymphocytes whatever the methods used for their purification.

[Association of hereditary hydrocephalus and holoprosencephaly].

An infant with alobar holoprosencephaly and hydrocephalus is reported. The mechanism of hydrocephalus (aqueductal stenosis) and the mother's previous history (2 boys from a first marriage still-born with hydrocephalus) suggest a X-linked hydrocephalus. The association of a holoprosencephaly with this hereditary hydrocephalus is discussed.

Cytogenetic study of 88 cases of refractory anemia.

Data obtained on 88 patients with refractory anemia or preleukemia, without previous cytotoxic treatment, showed medullar chromosomal abnormalities in 32%. In 45% of the cases, the disease had progressed to acute nonlymphocytic leukemia. A high frequency of acute transformation (78%) was observed in patients with abnormal clones.

Aflatoxin and Reye's syndrome.

This study indicates the association of a mycotoxin (aflatoxin B1) with Reye's syndrome. The presence of aflatoxin B1 in livers from 4 girls and 1 boy aged from 3 to 11 months was detected using two different techniques: a) direct chemical titration of aflatoxin B1 in liver extracts; and b) fluorescence microscopy of unstained liver sections. Our results suggest the existence of acute intoxication by aflatoxin in these children.

[The bone marrow karyotype in refractory anemia and preleukemia].

The term preleukemia may be used to refer to patients with acquired chronic cytopenias (refractory anemia with an excess of blast cells, refractory sideroblastic idiopathic anemia, or others idiopathic refractory cytopenias) who develop acute myeloid leukemia (AML) months or years later. In these syndromes, an abnormal bone marrow karyotype is found in about 50% cases, like in de novo AML. These abnormalities are similar to those observed in AML (mostly +8, -7, -5 or 5q-).

Immunolocalization of alpha-fetoprotein in the ovary and hypophysis of immature female rats.

Alpha-fetoprotein (AFP), an oestrogen-binding protein, has been localized in the ovary and hypophysis of prepuberal rats. In the ovary, AFP was localized in secondary follicles, its distribution being limited to the liquor folliculi and the zona pellucida. In the hypophysis, AFP was only found in blood vessels.