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Malignant myoepithelioma of soft tissue: a case report with cytogenetic findings.

Soft tissue malignant myoepithelioma (STMM) is a particularly rare tumor displaying myoepithelial elements and lacking obvious ductal differentiation. From the one case report with cytogenetic data available in the literature, STMM seems to be a distinct entity with some resemblance to chordoma on the one hand and myoepithelioma on the other. The present case of STMM yielded novel data from high-resolution comparative genomic hybridization (HR-CGH) analysis. An 82-year-old female patient presented with a soft tissue tumor within the deep soft tissues in the right gluteal muscle measuring 16 x

Establishment of the MAVER-1 cell line, a model for leukemic and aggressive mantle cell lymphoma.

BACKGROUND AND OBJECTIVES: Mantle cell lymphoma (MCL) cell lines are difficult to generate; only nine lines have been described so far and f … alysis showed a typical V/D/J rearrangement with naïve mutational status. According to both classic cytogenetic analysis and spectral karyotyping, MAVER-1 harbored the t(11;14) translocation associated with a complex karyotype. Molecular analysis by polymerase chain reactions showed that the t(11;14) breakpoint is within the major translocation cluster. Other importan …

Identification of novel chromosomal rearrangements in acute myelogenous leukemia involving loci on chromosome 2p23, 15q22 and 17q21.

Chromosomal translocations are frequently linked to multiple hematological malignancies. The study of the resulting abnormal gene products has led to fundamental advances in the understanding of cancer biology. This is the first report of t(2;15)(p23;q22) and t(2;17)(p23;q21) translocations in human malignancy. Patient 1, a 73-year-old male, was diagnosed with myeloblastic (FAB M1 sub-type) AML. Cytogenetic analysis showed a 47,XY,t(2;15)(p23;q22),+13 karyotype. Fluorescent in situ hybridization (FISH) showed that the PML gene was transferred intact to the short arm of chromosome 2 while the A…

A FISH cosmid 'cocktail' for detection of 13q deletions in chronic lymphocytic leukaemia--comparison with cytogenetics and Southern hybridization.

The most frequent structural chromosome abnormality in chronic lymphocytic leukaemia (CLL) is deletion at chromosome 13q14. Studies with Southern blot hybridisation have revealed deletions in the region located telomeric of the retinoblastoma gene in more than 40% of cases. The highest frequency of homozygous deletions has been found at the D13S319 locus and it is likely that a new tumour suppressor gene is located close to this region. We have analysed deletions in the D13S319 region in 20 selected CLL patients using conventional cytogenetic analysis, fluorescence in situ hybridisation (FISH)…

Evaluation of the dysmyelopoiesis in 336 patients with de novo acute myeloid leukemia: major importance of dysgranulopoiesis for remission and survival.

Myelodysplastic features and myeloperoxidase (MPO) deficiency have been investigated in a series of 336 cases of de novo acute myeloid leuke … sG. We were unable to find any correlation between MPO deficiency, dysplastic features and CR rate. Cytogenetic analysis could be assessed for 119 patients. For patients with DysG, 10 karyotypes were normal and 20 were abnormal compared to 48 normal and 41 abnormal for patients without DysG (p = 0.05). We conclude that the presence of DysG in de novo AML exerts a nega …

Chromosome abnormalities in CML.

The Ph chromosome is the hallmark of CML, where it is found in more than 90% of the cases. Cytogenetically, it usually results from a t(9;22)(q34;q11). The Ph arises in a stem cell and in chronic phase is found in all haematopoietic cell lineages, although it causes only increased granulopoiesis, and sometimes increased thrombopoiesis; furthermore blast crisis may occur in all differentiative patterns of the pluripotent stem cell. Recently, molecular investigations of Ph positive CML cases have revealed a consistent genomic recombination between two genes, BCR on chromosome 22 and the ABL onco

Genetic Dynamics of Allotetraploid Cotton Species (Gossypium spp.) and Their Utilization in Breeding for Superior Fiber Quality.

The restricted genetic diversity of current cotton varieties (Gossypium hirsutum L.) considerably limits breeding opportunities aimed at enh … alyzed using molecular-genetic and cytogenetic methods, and their breeding potential was evaluated. Cytogenetic analysis of the F1 hybrids revealed the occurrence of univalents at metaphase I of meiosis, while bivalent numbers reached 25.9 in some hybrid combinations. Based on molecular marker analysis, significant genetic differences and polymorphism were identified …

Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.

OBJECTIVE: This retrospective cytogenetic analysis aimed to characterize karyotypic profiles in a cohort of infertile Han Chinese couples undergoing assisted reproductive technology (ART) interventions. METHODS: G-banding karyotyping analysis was performed in 62,587 infertile couples from the outpatient department of the Institute of Women, Children and Reproductive Health, Shandong University (N-banding and C-banding technique or high-resolution technique if necessary) between January 2013 and December 2022. RESULTS: The overall prevalence of chromosomal abnormalities was 2.35% (2,938/125,174…

Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review.

OBJECTIVE: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of mos45,X/46,X,+mar. In addition, the cases with prenatally detected mos45,X/ 46,X,del(Y)(q11.2) and normal male external genitalia are reviewed. CASE REPORT: A 30-year-old, primigravid woman was referred for amniocentesis because of an abnormal Down syndrome screening result at 20 weeks' gestation. Cytogenetic analysis showed mos45,X/46,X,+mar…

An XX male with an intratubular undifferentiated germ cell neoplasia.

OBJECTIVE: To report a case of a 46,XX male with an intratubular undifferentiated germ cell neoplasia within an extra-abdominal gonad. DESIGN: Case report. SETTING: Molecular, cytogenetic, pathologic, and clinical units of three tertiary hospitals. PATIENT(S): A male with ambiguous genitalia at birth and descended testes observed in a pediatric endocrinology setting. INTERVENTION(S): Physical examination, hormonal assays, cytogenetic investigation, molecular analysis, surgical intervention for biopsies and bilateral orchiectomy, and pathologic evaluation. MAIN OUTCOME MEASURE(S): Patholog

Common pattern of unusual chromosome abnormalities in hereditary papillary renal carcinoma.

In this study, we summarized cytogenetic and comparative genomic hybridization (CGH) results, mutation analysis of the MET gene, and immunohistochemistry results of tumors from three patients in the same family who were affected by hereditary papillary renal carcinoma (HPRC). All three patients showed germline mutations in the tyrosine kinase domain of the MET proto-oncogene, and developed bilateral and multiple papillary renal tumors. DNA mutation analysis showed an increased dosage of the mutant allele in six tumors from two patients but not in two tumors from the third patient. In addition

A comparison of conventional metaphase analysis of Giemsa-stained chromosomes with multi-colour fluorescence in situ hybridization analysis to detect chromosome aberrations induced by daunomycin.

Chromosome aberrations induced by daunomycin, a widely used positive control compound for in vitro cytogenetics assays, were identified by multi-colour fluorescence in situ hybridization with probes for chromosomes 1, 2 and 3. The frequency and distribution of aberration types were compared to conventional metaphase analysis of Giemsastained chromosomes from parallel human lymphocyte cultures. Multi-colour chromosome painting was a more sensitive method for detecting daunomycin-induced chromosome aberrations compared with conventional metaphase analysis because: (i) a higher level of statistic

Cytogenetic risk stratification combined with minimal residual disease status influences the therapeutic outcome and prognosis of multiple myelomas.

To explore the value of cytogenetic risk stratification combined with minimal residual disease (MRD) status in predicting the therapeutic efficacy and prognosis for multiple myeloma (MM). From January 2017 to December 2023, 73 cases of newly diagnosed MM were recruited. Cytogenetic risks were stratified according to the results of fluorescence in situ hybridization (FISH); MRD status and clinical data were analyzed. The progression-free survival (PFS) and overall survival (OS), and their influencing factors were evaluated. During the median follow-up period of 30 (4-65) months, the median prog

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… FISH Cytogenetic analysis was performed in all patients prior to FISH. Briefly, CD138 + cells were sorted from the bone marrow specimens. Cytogenetic features, including p53 deletions, 1q21 amplification, 13q14 deletions and IgH rearrangements, were detected. …

[Diagnostic algorithm in chronic myeloproliferative diseases (CMPD)].

The Philadelphia-negative chronic myeloproliferative diseases (CMPD) are very complex and heterogeneous disorders. They are represented by polycythemia vera (PV), chronic idiopathic myelofibrosis (CIMF), essential thrombocythemia (ET), CMPD/unclassifiable (CMPD-U), chronic neutrophilic leukemia (CNL), and chronic eosinophilic leukemia/hypereosinophilic syndrome (CEL/HES) according to the WHO classification. Before, diagnostics were mainly focused on clinical and morphological aspects, but in recent years cytogenetics and fluorescence in situ hybridization (FISH) found entrance in routine sched

Trisomy 4q syndrome: presentation of a new case and review of the literature.

We describe the 11th case of a de novo partial trisomy of the long arm of chromosome 4, with the extra segment spanning from 4q27 to 4q35. The aberration resulted from an unbalanced translocation of material from 4q to the short arm of chromosome 7, as evident from fluorescent in situ hybridization. Microsatellite analysis revealed the extra material to originate from the father. The karyotype was interpreted as 46,XX,der(7)t(4;7)(q27;p22). The patient is a 13-year-old girl with severe mental retardation, growth retardation, hearing impairment as well as minor foot, thumb and facial anomalies.

Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.

Disorders of sexual development represent a pathologic and clinical challenge. Many different clinical syndromes exist, and several classifications have been proposed in relation to different risks for malignant degeneration. The morphology, cytogenetics, and immunophenotype of a monolateral ovotestis in a 3-month-old individual with ambiguous genitalia and right inguinal mass are reported. The inguinal mass consisted of a tiny female genital tract with a hermaphroditic gonad with focal placental-like alkaline phosphatase-stained gonocytes; chromosome analysis disclosed a mosaic constitution:

4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

On the basis of the Human Cytogenetic Database, a computerized catalog of the clinical phenotypes associated with cytogenetically detectable human chromosome aberrations, we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed a highly significant association (P<0.001) between the malformation and the chromosomal bands 4q32-q35, 5q15, 6q16-q22 and 7q11.2-q22 (SHFM1). Considering these findings, we suggest additional SHFM loci on chromosome 4q, 6q and probably 5q. The regions 4q and 6q have al

Spurious monosomy 7 in leukemia due to centromeric heteromorphism.

We report heteromorphism of the centrometric region of human chromosome 7, which was observed in the cytogenetic assessment of a complete remission of a pre-B acute lymphoblastic leukemia in the bone marrow cells of a 25-year-old woman. Classical cytogenetic study was performed, as well as metaphase and interphase fluorescence in situ hybridization (FISH) carried out with an alphoid DNA probe specific for the chromosome 7 centromere for detection of leukemic clones with monosomy 7 found at the initial diagnosis. We show an important centromeric heteromorphism of this chromosome detected by FIS

Molecular analysis by fluorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q).

We report one case of de novo complex chromosomal rearrangement (CCR) t(2q;3p;4q;13q) with at least five chromosomal breakpoints. This CCR was detected prenatally at 22 weeks of gestation, when mild echographic indications were disclosed during a routine examination in a female with no family history of congenital abnormalities. This observation clearly illustrates what the fluorescence in situ hybridization (FISH) technique can offer to the analysis of such rearrangements, together with standard cytogenetic techniques. No chromosomal imbalance was cytologically proved. Nevertheless, the statu

Detection of chromosome 11 alterations in blood and bone marrow by interphase cytogenetics in mantle cell lymphoma.

The t(11;14)(q13;q32) translocation is a consistent chromosome change in mantle cell lymphomas. This study investigates the application of fluorescent in situ hybridization (FISH) with chromosome painting probes for interphase cytogenetic analysis in patients with mantle cell lymphomas. Chromosome 11 paints have been able to show splitting of the chromosome signal consistent with the t(11;14) translocation in interphase cells from bone marrow and blood of patients with mantle cell lymphomas. These include some in clinical remission. The chromosome probes conjugated with fluorescent molecules a…