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Cancer is a disease of the genome, arising from various types of genomic changes that alter the behaviour of cells. A number of genomic and post-genomic studies have been conducted to provide insight into the molecular mechanisms underlying the development of cancer. In this Genome Biology collection, we showcase recent efforts to provide a comprehensive perspective on cancer, including tumor initiation, metastasis, and drug resistance.
Case Report
Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is cons...
Molecular Cytogenetics 2017 10:35
Published on: 11 September 2017
Short report
Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to i...
Molecular Cytogenetics 2017 10:19
Published on: 19 May 2017
Research
To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus st...
Molecular Cytogenetics 2017 10:16
Published on: 4 May 2017
Case Report
The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, an...
Molecular Cytogenetics 2017 10:13
Published on: 11 April 2017
Research
Rarity and heterogeneity of liposarcomas (LPS) make their diagnosis difficult even for sarcoma-experts pathologists. The molecular mechanism underlying the development and progression of liposarcomas (LPS) rem...
Molecular Cytogenetics 2017 10:7
Published on: 16 March 2017
Case Report
Myeloproliferative neoplasms (MPNs), typically defined by myeloid proliferation and eosinophilia, and are only rarely caused by platelet-derived growth factor receptor beta (PDGFRB) gene rearrangements.
Molecular Cytogenetics 2017 10:4
Published on: 27 February 2017
Research
The genetic basis of metastasis is still unclear because metastases carry individual karyotypes and phenotypes, rather than consistent mutations, and are rare compared to conventional mutation. There is howeve...
Molecular Cytogenetics 2016 9:90
Published on: 16 December 2016
Review
Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreo...
Molecular Cytogenetics 2016 9:85
Published on: 23 November 2016
Research
Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases as...
Molecular Cytogenetics 2016 9:84
Published on: 21 November 2016
Research
Wilms tumor (WT) has a not completely elucidated pathogenesis. DNA copy number alterations (CNAs) are common in cancer, and often define key pathogenic events. The aim of this work was to investigate CNAs in o...
Molecular Cytogenetics 2016 9:20
Published on: 24 February 2016
Short report
Diffuse astrocytomas are characterized by their highly variable biological behavior. The possibility that tumors develop novel aberrations, with relevant biological properties, is often neglected. In this stud...
Molecular Cytogenetics 2016 9:13
Published on: 9 February 2016
Research
Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ hybridization (FIS...
Molecular Cytogenetics 2016 9:1
Published on: 6 January 2016
Case report
Musashi2(Msi2)-Numb pathway de-regulation is a molecular mechanism underlying the transition of chronic phase Ph + CML to deadly blast crisis, particularly in cases with a NUP98/HOXA9 fusion from a t(7;11)(p15;p1...
Molecular Cytogenetics 2014 7:42
Published on: 20 June 2014
Case report
Advances in genome-wide molecular cytogenetics allow identification of novel submicroscopic DNA copy number alterations (aCNAs) and copy-neutral loss of heterozygosity (cnLOH) resulting in homozygosity for kno...
Molecular Cytogenetics 2014 7:35
Published on: 27 May 2014
Research
Myelofibrosis occurs as primary myelofibrosis or as a late occurrence in the evolution of essential thrombocythaemia and polycythaemia vera. It is the rarest of the three classic myeloproliferative neoplasms (...
Molecular Cytogenetics 2013 6:59
Published on: 17 December 2013
Research
An interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferativ...
Molecular Cytogenetics 2013 6:56
Published on: 12 December 2013
Case report
Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important i...
Molecular Cytogenetics 2013 6:40
Published on: 30 September 2013
Case report
ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia ...
Molecular Cytogenetics 2013 6:39
Published on: 20 September 2013
Letter to Editor
The association of microRNA alterations with progression and treatment outcome has been revealed in different types of cancers. To find miRNAs involved in imatinib response we performed miRNA microarray follow...
Molecular Cytogenetics 2013 6:27
Published on: 16 July 2013
Case report
Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from...
Molecular Cytogenetics 2013 6:18
Published on: 5 May 2013
Case report
The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5′ part of the BCR gene on chromosome 22 to the 3′ part of the...
Molecular Cytogenetics 2012 5:36
Published on: 20 August 2012
Case report
Translocation (9;22)(q34;q11.2) resulting in BCR/ABL1 fusion at the molecular level is the hallmark of chronic myelogenous leukemia (CML). Variants of the Philadelphia translocation and complex translocations ...
Molecular Cytogenetics 2012 5:23
Published on: 1 May 2012
Case report
About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...
Molecular Cytogenetics 2012 5:20
Published on: 1 May 2012
Methodology
The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and ar...
Molecular Cytogenetics 2012 5:10
Published on: 2 February 2012
Case report
Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is m...
Molecular Cytogenetics 2011 4:16
Published on: 18 August 2011
Research
To evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS an...
Molecular Cytogenetics 2011 4:3
Published on: 20 January 2011
