Chromosomal instability, which is a characteristic of many human cancers, contributes to intratumour heterogeneity and has been functionally implicated in resistance to taxane therapy in tumour models. However, defining the status of tumour chromosomal instability in a given tumour to test this hypothesis remains challenging. Measurements of numerical and structural ...

Canine cutaneous histiocytoma (CCH) is the most common skin tumour of young dogs. CCH is assumed to be a tumour, but as these lesions often undergo complete regression, they have also been proposed to represent hamartomas or unregulated hyperplasia of polyclonal histiocytic cells. To demonstrate a monoclonal origin of CCH, ...

Meningiomas represent one of the most common types of primary intracranial tumours. However, the specific molecular mechanisms underlying their pathogenesis remain uncertain. Loss of chromosomes 22q, 1p, and 14q have been implicated in most meningiomas. Inactivation of the NF2 gene at 22q12 has been identified as an early event in ...

Colorectal carcinomas are considered to progress by chromosomal instability (CIN), or microsatellite instability (MSI) and/or epigenetic gene silencing; however, in previous studies we observed a small fraction of tumours without this molecular phenotype. To further investigate these 'X-type' tumours, neoplastic glands from five tumours were isolated by laser-capture microdissection and ...

BACKGROUND Ovarian response in female translocation carriers is not well understood. We aimed to evaluate the impact of chromosomal autosomal balanced translocations on the ovarian response to controlled ovarian stimulation (COS) in female carriers undergoing IVF and PGD. METHODS In a retrospective study, we included all female translocation carriers who ...

We evaluated the prognostic impact of chromosomal abnormalities as detected by interphase fluorescence in situ hybridization (iFISH) in 86 chronic lymphocytic leukemia (CLL) patients. Overall, 39 of 86 (45%) patients displayed one (35%) or more (10%) chromosomal abnormalities, del13q (31%) being more frequently detected than trisomy 12 (19%) followed by ...

Deletion of the long arm of one chromosome 20 (del(20q)) is a well-recognized abnormality in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) and is presumed to cause loss of a tumor suppressor gene at 20q12. In a previously published series of MDS and AML cases, which had lost this ...

During a 15-year period, 161 adult patients were diagnosed with secondary acute myeloid leukemia (s-AML) in the region of Southern Denmark. In 73 patients, the AML diagnosis was preceded by myelodysplastic syndrome (MDS-AML), in 31 patients by an antecedent hematologic disease, and in 57 patients by treatment with chemotherapy and/or ...

Previous literature suggests that cytogenetics may be used for risk-adapted therapy in patients with relapsed/refractory multiple myeloma (MM) treated with lenalidomide and dexamethasone. However, the significance of each abnormality is still unclear, and chromosome 1 abnormalities have yet to be studied in this population. We therefore evaluated genetic risk factors ...

Evolution to myelofibrosis (MF), acute myeloid leukemia or myelodysplastic syndrome (AML/MDS) may occur over time in myeloproliferative neoplasms (MPN) patients most likely due to the acquisition of additional mutations. The Groupe Francophone de cytogenetique hematologique (GFCH) has collected and reviewed 82 patients with transformation of MPN (66 AML/MDS and 16 ...

To evaluate whether copy number alterations (CNAs) are present that may contribute to disease development and/or progression of childhood myelodysplastic syndromes (MDS), 36 pediatric MDS patients were analyzed using array-based comparative genome hybridization (aCGH). In addition to monosomy 7, the most frequent chromosome aberration in childhood MDS, novel recurrent CNAs ...

This cooperative study assessed prognostic factors for overall survival (OS) and risk of transformation to acute myeloid leukemia (AML) in 541 patients with de novo myelodysplastic syndrome (MDS) and deletion 5q. Additional chromosomal abnormalities were strongly related to different patients' characteristics. In multivariate analysis, the most important predictors of both ...

Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with a variable clinical course. The aim of this study was to evaluate whether a combination of genetic parameters can improve prediction of outcome irrespective of clinical stage. The prognostic impact of chromosome banding analysis (CBA) in addition to FISH and IgVH ...

Deletions of chromosome 11q[del(11q)] as part of a non-complex karyotype are infrequent in myelodysplastic syndromes (MDS), leaving the clinicopathologic and genetic features largely undefined. From three large medical centers over a 10-year period, we identified 32 MDS cases where del(11q) was present either as a sole (n=23) or associated with ...

Monosomy 7 and/or deletion of the long arm of chromosome 7 is a common cytogenetic aberration in children with myelodysplastic syndrome (MDS) and is associated with poor outcome. In this report, we present an unusual cytogenetic abnormality leading to loss of both the whole short and whole long arms of ...

Loss of material from chromosome arm 5q is a common finding in patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). Fluorescence in situ hybridization with a panel of different types of probes, used as a complement to conventional cytogenetics, revealed that 7 of 148 patients (4.7%) with abnormalities ...

Deletions of the long arm of chromosome 5 [del(5q)] are frequent chromosome aberrations with known prognosis in myelodysplastic syndromes and acute myeloid leukemia (AML). However, in chronic lymphocytic leukemia (CLL), they are rare and have been reported only as karyotypic results without known prognosis. In the present study, we report ...

The detection of chromosome abnormalities by conventional cytogenetics, now combined with analyses using fluorescence in situ hybridization (FISH), is an important component in assessing the risk stratification of acute lymphoblastic leukemia (ALL). Identification of specific chromosome abnormalities led to the recognition of genetic subgroups based on modal chromosomal number, reciprocal ...

A 70-year-old male was admitted because of back pain due to peri-vertebral tumors. The histologic picture of a needle-biopsied tumor specimen showed pleomorphic large cell infiltration into the collagen fibers. On immunohistochemistry, these abnormal cells were positive for CD68, CD163 and lysozyme but negative for CD1a, 21, 30, and S100. ...

Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the first case of this chromosomal abnormality in Korea, thereby facilitating the delineation of a distinct subtype of ALL. A 57-yr-old ...

BACKGROUND: Haploinsufficiency of the ribosomal protein S14 RPS14 gene, located in the common deleted region of chromosome 5q, is a potential causal factor of 5q- syndrome. Lenalidomide elicits high response rates and morphological improvements in myelodysplastic syndrome (MDS) patients with chromosome 5q deletion [del(5q)]. METHODS: To further evaluate the role ...

The open prospective combined cytogenetic and clinical study investigated the impact of biological therapy Rituximab on number and structure of chromosomes in Rheumatoid arthritis patients. The purpose of this study was to investigate safety of Rituximab on chromosomes as well as cytotoxic therapy Methotrexate. A total of 8 seropositive Rheumatoid ...

We experienced a 16-year-old patient with T-cell acute lymphoblastic leukemia, who had multiple unrelated chromosomal abnormalities in host cells after chemotherapy and cord blood transplantation (CBT). In 7 consecutive cytogenetic studies after CBT, he showed various chromosomal abnormalities including t(1;11)(p32;q23), t(8;21)(q22.2;q22.2), t(6;10)(p21.3;q26), and del(7) (q22q34). His chromosomal abnormalities were unstable ...

BACKGROUND: Chromosomal abnormalities in childhood acute lymphoblastic leukaemia are well established disease markers and indicators of outcomes. However, the long-term prognosis and independent prognostic effect of some abnormalities has been questioned. Also, little is known about the association between cytogenetics and the characteristics of relapse (eg, time and site of ...

We report a case of a 47-year-old man diagnosed with chronic lymphocytic leukemia (CLL) with two extra copies of chromosome 8. Classical cytogenetic analysis by the immunostimulatory combination of DSP30 and interleukin 2 showed tetrasomy of chromosome 8 in 60% of the metaphase cells (48,XY,+8,+8[12]/46,XY[8]). Spectral karyotype analysis confirmed the ...

Abnormalities of chromosome 5 are common aberrations in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), being del(5q) the most frequent. In contrast, monosomy 5 is not so frequent and, usually, is associated with complex karyotypes, conferring poor prognosis. The aim of this study was to analyze, by FISH for ...

The 8p11 myeloproliferative syndrome is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 tyrosine kinase gene on chromosome 8p11-12. By our count, 65 cases are currently reported in the literature. This neoplasm affects patients of all ages, with a slight male predominance. Patients often ...

Deletion of the long arm of chromosome 20 is a common abnormality associated with myeloid malignancies. We characterized abnormalities of chromosome 20 as defined by metaphase cytogenetics (MC) in patients with myeloid neoplasms to define commonly deleted regions (CDR) and commonly retained regions (CRR) using genome-wide, high resolution single nucleotide ...

Chronic lymphocytic leukemia (CLL) is associated with recurrent cytogenetic abnormalities that are important prognostic indicators and may influence treatment choices. Nonetheless, several chromosome abnormalities have not yet been completely determined, because of the low mitotic in vitro activity of B-CLL cells. Now, novel technologies such as stimulation of CLL cells ...

Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA testing, but guidelines for chromosomal microarray analysis have not been established. A cohort of 933 patients received clinical ...

Although conventional cytogenetics is considered the gold standard to detect chromosomal abnormalities in myelodysplastic syndromes (MDS), fluorescence in situ hybridization (FISH) is being increasingly used additionally. However, the real contribution of FISH analysis in the cytogenetic diagnosis of MDS has not been well defined. The aim of this study was ...

Current information is insufficient regarding the prevalence, cytogenetic details, JAK2 involvement, JAK2V617F mutational status, and clinicopathologic correlates of chromosome 9p24 abnormalities. The current study was designed to provide additional data in this regard. The Mayo Clinic cytogenetics database spanning the years 1989-2008 was screened for chromosome 9p24 abnormalities. Bone marrow ...

The present study was designed to establish the incidence of cytogenetic evolution (CE), defined as the acquisition of chromosomal defects during the course of MDS, in order to correlate it with the WHO classification and IPSS score, and to assess its impact on overall survival (OS) and risk of MDS/AML ...

Multiple studies, with differing results, have compared the added sensitivity of fluorescence in situ hybridization (FISH) with conventional cytogenetics (CC) to detect genetic abnormalities in myelodysplastic syndrome (MDS). We hypothesized that in the setting of an adequate CC study, FISH would correlate with microscopic genetic abnormalities involving chromosomes 5, 7, ...

OBJECTIVE: Azathioprine is widely used in patients with autoimmune diseases and after organ allografting. A recognized carcinogen, azathioprine is also associated with the development of therapy-related myelodysplastic syndrome and acute myeloid leukemia (t-MDS/AML). METHODS: In 56 reported cases, azathioprine had been administered for a median of 65 months (range 6-192) ...

Loss of a whole chromosome 5 or a deletion of the long arm of chromosome 5, -5/del(5q), is a recurring abnormality in myeloid neoplasms. The APC gene is located at chromosome band 5q23, and is deleted in more than 95% of patients with a -5/del(5q), raising the question of whether ...

We report on the occurrence of an unbalanced translocation between chromosomes 1 and 16 as a single abnormality in an 81-year-old patient with myelodysplastic syndrome (MDS) diagnosed as refractory cytopenia with multilineage dysplasia. The derivative chromosome, causing trisomy 1q and monosomy 16q, was described on the basis of fluorescent in ...

Throughout the world, chromosome alterations are one of the main causes of major malformations in newborns and of multiple clinical characteristics in patients of other ages. The present study had as its principle objective to determine the distribution of chromosome alterations obtained from 1999-2009 at a private laboratory located in ...

Studies in mothers of Down syndrome individuals (MDS) point to a role for polymorphisms in folate metabolic genes in increasing chromosome damage and maternal risk for a Down syndrome (DS) pregnancy, suggesting complex gene-gene interactions. This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian ...

A 69-year-old man was admitted because of macrocytic anemia and peripheral monocytosis: hemoglobin 75 g/L and white blood cells 16.0x10(9) /L with 22% monocytes. Five years prior, he had received CHOP regimen and radiotherapy for diffuse large B-cell lymphoma. Bone marrow was hypercellular with trilineage dysplasia and 2.4% blasts. Chromosome ...

Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case ...

The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists. Intimate knowledge and comfortable familiarity with these techniques are now a must for the modern cytogeneticist, rather than ...

Malignant plasma cells in multiple myeloma (MM) are frequently characterized by complex karyotypes and chromosome instability. These cytogenetic changes are considered important prognostic indicators in MM patients. We have studied samples from 68 patients with newly diagnosed MM who were treated with high-dose chemotherapy and autologous stem cell transplantation. G-banding ...

NPM1 gene at chromosome 5q35 is involved in recurrent translocations in leukemia and lymphoma. It also undergoes mutations in 60% of adult acute myeloid leukemia (AML) cases with normal karyotype. The incidence and significance of NPM1 deletion in human leukemia have not been elucidated. Bone marrow samples from 145 patients ...

Unexplained anemia in the elderly could represent myelodysplastic syndrome (MDS). We assessed the utility of using a fluorescence in situ hybridization (FISH) panel for common chromosomal abnormalities seen in MDS. A total of 101 elderly outpatients with anemia of unknown etiology were evaluated. Complete blood count, bone marrow biopsy, conventional ...

Interphase cytogenetics are commonly used to identify clonal abnormalities in chronic lymphocytic leukemia (CLL) patients but fail to identify recurrent translocations that ultimately can direct more focused molecular characterization. Given the importance of del(17p13.1) in CLL outcome, we performed an extensive review of 1213 patients undergoing metaphase cytogenetics at our ...

Secondary pulmonary alveolar proteinosis (PAP) is a rare lung disease that has been reported in 13 cases of myelodysplastic syndromes (MDS). A dicentric isochromosome of deleted chromosome 20q, idic(20q-), is a newly recognized rare, but recurrent, cytogenetic anomaly that has been described in 28 cases of MDS. Recently, we encountered ...

Therapy-related myelodysplastic syndrome and acute myeloid leukemia (t-MDS/t-AML) are late complications of cytotoxic therapy used in the treatment of malignant diseases. The most common subtype of t-AML ( approximately 75% of cases) develops after exposure to alkylating agents, and is characterized by loss or deletion of chromosome 5 and/or 7 ...

Chromosome 1 is the largest human chromosome and contains over 1600 known genes and 1000 novel coding sequences or transcripts. It is, therefore, not surprising that recurrent chromosome 1 abnormalities are regularly encountered in both neoplastic and non-neoplastic medical conditions. The current review is focused on myeloid malignancies where we ...

The identification of the genes associated with chromosomal translocation breakpoints has fundamentally changed understanding of the molecular basis of hematological malignancies. By contrast, the study of chromosomal deletions has been hampered by the large number of genes deleted and the complexity of their analysis. We report the generation of a ...