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Pretreatment cytogenetics add to other prognostic factors predicting complete remission and long-term outcome in patients 60 years of age or older with acute myeloid leukemia: results from Cancer and Leukemia Group B 8461.

We investigated the relative prognostic significance of cytogenetics in 635 adult acute myeloid leukemia (AML) patients 60 years of age or older treated on front-line protocols. Classification trees and tree-structured survival analysis (TSSA) were used to identify important cytogenetic groups, and their prognostic significance was then assessed in multivariable analysis (MVA). Overall, 48.5% achieved complete remission (CR); 6.6% survived at 5 years. Complex karyotypes with at least 3 abnormalities (complex > or = 3) and a group including "rare aberrations" predicted lower CR rates (25% and 3

[Classical and molecular cytogenetic abnormalities in 124 pediatric patients with acute lymphoblastic leukemia].

OBJECTIVE: In childhood acute lymphoblastic leukemia (ALL), cytogenetics plays an important role in diagnosis, allocation of treatment and prognosis. On the basis of the conventional cytogenetic analysis, molecular methods have improved pediatric hematologists/oncologist's ability to accurately and rapidly perform risk-stratification on patients with childhood ALL during the last few years. The aim of the present study was to assess the demography of cytogenetic abnormalities in childhood ALL. METHOD: The study subjects consisted of 124 newly diagnosed ALL patients younger than 16 years of ag…

Chromosomal aberrations in adenomatoid hyperplasia of palatal minor salivary gland.

Adenomatoid hyperplasia of minor salivary glands is rare, idiopathic, and benign, and typically presents as a tumour-like mass in the hard or soft palate. Its exact nature is not clear and histological examination usually shows an excess of normal-appearing minor salivary glands. To our knowledge, cytogenetic analysis of it in a minor salivary gland of the palate has not previously been reported. We present the cytogenetic analysis of adenomatoid hyperplasia in the hard palate of a 52-year-old woman.

Prognostic impact of cytogenetic alterations in newly diagnosed acute myeloid leukemia treated with risk-adapted protocols.

BACKGROUND AND OBJECTIVE: In acute myeloid leukemia (AML), cytogenetic alterations have influence on treatment response and are essential for risk stratification, although some have uncertain prognostic relevance. In this study, the prognostic impact of cytogenetic alterations was analyzed in a series of newly diagnosed AML patients treated with risk-adapted protocols. PATIENTS AND METHOD: The cytogenetic profile of 1417 adult patients diagnosed with de novo AML (without t(15;17) or PML::RARA) enrolled in the CETLAM cooperative group protocols from 1994 to 2012 was studied, and its impact on

Combined Selection System to Lower the Cutoff for Plasma Cell Enrichment Applied to iFISH Analysis in Multiple Myeloma.

Multiple myeloma (MM) is a very heterogeneous disease, characterized by multiple cytogenetic aberrations on plasma cells (PC) that have been traditionally used to predict the outcome of the disease. A mayor issue on the analysis of PC is the sometimes low infiltration of these cells in the bone marrow that hampers cytogenetic studies. To solve this problem we have optimized a selection strategy based on PC immunomagnetic isolation that has allowed us to lower to 1% the minimal PC infiltration requirement without loss of purity, enabling to perform genetic analysis. In this study, we have analy

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… We were able to perform cytogenetic analysis from 93 out of 95 samples. On the remaining 2 samples the analysis failed due to low numbers of PC present in the bone marrow. …

Cytogenetic Abnormalities Found in Patients with Reproductive Problems.

INTRODUCTION: One of the important causes of male infertility is aberration at the chromosomes. AIM: The main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years. METHODS: A total of 353 infertile/sterile men, between the ages of 22-55 years, referred for cytogenetic analysis to the Center for Genetics of Faculty of Medicine during the period 2013-2016. Karyotyping was performed on peripheral blood lympho…

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro.

OBJECTIVES: Cytogenetic analysis of spontaneous abortion samples can be limited by culture failure. Failure to grow in vitro has traditionally been suspected to be due to in vivo death of tissue associated with spontaneous abortion (SAB) or simply technical factors of growth in culture. METHOD: We used array comparative genomic hybridization (array CGH) to investigate chromosomal imbalances in products of conception that failed to grow in vitro. RESULTS: Our data on 26 cases of SABs that failed to grow in culture are compared and contrasted with published data on cytogenetic findings followi…

The use of FISH with chromosome-specific repetitive DNA probes for the follow-up of leukemia patients. Correlations and discrepancies with bone marrow cytology.

The use of fluorescence in situ hybridization (FISH) for the purpose of repeated follow-up examination of bone marrow samples from 38 leukemia patients was investigated. On the basis of conventional cytogenetic analysis, patients with acute leukemia whose leukemic cells carried numerical chromosomal aberrations were selected and followed with repetitive DNA probes that specifically hybridize to one chromosome type. Repeated cytogenetic metaphase analyses would have been laborious and not sensitive or quantitative enough to follow declining numbers of aberrant cells. FISH, as an interphase cyto…

Clarification of dubious karyotypes in Hodgkin's disease by simultaneous fluorescence immunophenotyping and interphase cytogenetics (FICTION).

Cytogenetic studies on Hodgkin's disease (HD) typically reveal very complex karyotypes with a variety of numerical and structural abnormalit … lls must be considered. The technique of simultaneous fluorescence immunophenotyping and interphase cytogenetic analysis (referred to as FICTION) is a powerful tool for studying the nature of cytogenetically abnormal cells. With the FICTION technique we studied four cases of HD in which the chromosome analysis had shown only the loss of the Y chromosome. Our aim was t …

The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.

OBJECTIVES: Chromosomal microarray analysis (CMA) is the method of choice for genetic work-up in cases of fetal malformations. We assessed the detection rate of CMA in cases of abnormal fetal head circumference (HC). METHODS: The study cohort was based on 81 cases of amniocenteses performed throughout Israel for the indication of microcephaly (53) or macrocephaly (28), from January 2015 through December 2018. We retrieved data regarding the clinical background, parental HCs and work-up during the pregnancy from genetic counseling summaries and from patients' medical records. RESULTS: There w

Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling.

BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA). RESULTS: In all cases, CMA analysis found that each inversion was associated with complex Xq28 rearrangement. In t

Fluorescent in situ hybridization for identifying cytogenetic abnormalities in inadequate and suboptimal specimens.

Conventional cytogenetic analysis is often hampered by its dependency on the evaluation of dividing cells. When the mitotic index is low, or the cytogenetic preparation suboptimal, an accurate diagnosis often cannot be achieved using standard GTG banding. Molecular cytogenetics using fluorescent in situ hybridization (FISH) can be extremely useful in such a situation because it can be performed on nondividing interphase nuclei, and can usually be carried out on existing slides without requiring an additional specimen. The present paper presents two case histories to illustrate the utility of F…

Cytogenetics for Biological Dosimetry.

Cytogenetics is the gold-standard in biological dosimetry for assessing a received dose of ionizing radiation. More modern techniques have recently emerged, but none are as specific as cytogenetic approaches, particularly the dicentric assay. Here, we will focus on the principal cytogenetic techniques used for biological dosimetry: the dicentric assay in metaphase cells, the micronuclei assay in binucleated cells, and the premature condensed chromosome (PCC) assay in interphase cells. New fluorescence in situ hybridization (FISH) techniques (such as telomere-centromere hybridization) have faci

Primary amenorrhoea - cytogenetic study in 40 Indian women.

BACKGROUND: Primary amenorrhoea (PA) refers to an ailment when adolescent girls do not attain menarche naturally. It is one of the most common gynaecological disorders specified. Chromosomal abnormalities play a pivotal role in PA. Cytogenetic analysis is an indispensable diagnostic tool to determine the abnormality of the chromosome. In an emerging country like India, cytogenetic analysis is at a nascent stage. There are very few studies on Cytogenetics present in eastern India, including West Bengal. In rural and suburban areas PA sufferers often experience late diagnosis and struggle to acc…

Cytogenetics and genomics in pediatric acute lymphoblastic leukaemia.

The last five decades have witnessed significant improvement in diagnostics, treatment and management of children with acute lymphoblastic leukaemia (ALL). These advancements have become possible through progress in our understanding of the genetic and biological background of ALL, resulting in the introduction of risk-adapted treatment and novel therapeutic targets, e.g., tyrosine kinase inhibitors for BCR::ABL1-positive ALL. Further advances in the taxonomy of ALL and the discovery of new genetic biomarkers and therapeutic targets, as well as the introduction of targeted and immunotherapies

Factors influencing access to specialised haematology units during acute myeloblastic leukaemia patient care: A population-based study in France.

BACKGROUND: The excess mortality observed in Acute Myeloblastic Leukaemia (AML) patients, partly attributed to unequal access to curative tr … nts. Patients who consulted in SHU were younger (66 years vs. 83, p < 0.001), and 92% had access to cytogenetic analysis (vs. 54%, p < 0.001). They also had less poor prognosis AML-subtypes (AML-MRC, t-AML/MDS and AML-NOS) (38% vs. 69%); 77% with de novo AML (vs. 67%, p < 0.003)], more favourable cytogenetic prognostic status (23% vs. 6%, p < 0.001), less comorbiditie …

THE PROJECT OF ANOTHER LOW-COST METAPHASE FINDER (SECOND REPORT-APPLICATION OF ARTIFICIAL INTELLIGENCE).

Biological dosimetry is used to estimate individual absorbed radiation dose by quantifying an appropriate biological marker. The most popular gold-standard marker is the appearance of dicentric chromosomes in metaphase. The metaphase finder is a tool for biological dosimetry that finds metaphase cells on glass slides. The author and a software company have designed a new system and are now preparing to produce the system commercially. The metaphase finder consists of an automated microscope, a camera, and a computer. To enhance the accuracy of the system, an artificial intelligence (AI) with d

Detecting ATM-dependent chromatin modification in DNA damage response.

Loss of function or mutation of the ataxia-telangiectasia mutated gene product (ATM) results in inherited genetic disorders characterized by neurodegeneration, immunodeficiency, and cancer. Ataxia-telangiectasia mutated (ATM) gene product belongs to the PI3K-like protein kinase (PIKKs) family and is functionally implicated in mitogenic signal transduction, chromosome condensation, meiotic recombination, cell-cycle control, and telomere maintenance. The ATM protein kinase is primarily activated in response to DNA double strand breaks (DSBs), the most deleterious form of DNA damage produced by i

Follicular non-Hodgkin's lymphoma: correlation between histology, pathophysiology, cytogenetic, prognostic factors, treatment, survival.

BACKGROUND: Folicullar lymphoma (FL) is one of the most common types of all non-Hodgkin's lymphomas (25-40%), characterized by a slowly progressive enlargement of lymph nodes, impairment of hematopoiesis, increased risk to infections, a relatively good prognosis, but usually incurable. Histopathologically, FL has been graded according to the proportion of centroblasts and stratified into grades 1-3: FL grade 1-2 (low-grade), which include cases with few centroblasts, and FL grade 3, divided into grades 3a and 3b, based on the absence of centrocytes in the latter category. Several studies have