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Cancer genetics

Genome Biology Collection

cancer genomics © Ewing et al., Genome Biology (2013)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.

  1. Case Report

    A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome

    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...

    Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R. Ney Garcia, Elaine Sobral da Costa, Moneeb A.K. Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva and Teresa de Souza Fernandez

    Molecular Cytogenetics 2017 10:35

    Published on: 11 September 2017

  2. Case Report

    Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor

    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...

    Ilda P. Ribeiro, Francisco Marques, Leonor Barroso, Jorge Miguéis, Francisco Caramelo, André Santos, Maria J. Julião, Joana B. Melo and Isabel M. Carreira

    Molecular Cytogenetics 2017 10:13

    Published on: 11 April 2017

  3. Research

    Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma

    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...

    Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko, Janusz Ryś, Markku Miettinen, Jerzy Lasota, Wojciech Biernat, Agnieszka Harazin-Lechowska, Anna Kruczak and Janusz Limon

    Molecular Cytogenetics 2017 10:7

    Published on: 16 March 2017

  4. Case Report

    Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11)

    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.

    Guangying Sheng, Zhao Zeng, Jinlan Pan, Linbing Kou, Qinrong Wang, Hong Yao, Lijun Wen, Liang Ma, Depei Wu, Huiying Qiu and Suning Chen

    Molecular Cytogenetics 2017 10:4

    Published on: 27 February 2017

  5. Research

    Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases

    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...

    Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P. Patel, L. Jeffrey Medeiros, Pei Lin and Xinyan Lu

    Molecular Cytogenetics 2016 9:84

    Published on: 21 November 2016

  6. Research

    Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

    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...

    A. C. V. Krepischi, M. Maschietto, E. N. Ferreira, A. G. Silva, S. S. Costa, I. W. da Cunha, B. D. F. Barros, P. E. Grundy, C. Rosenberg and D. M. Carraro

    Molecular Cytogenetics 2016 9:20

    Published on: 24 February 2016

  7. Short report

    Primary and recurrent diffuse astrocytomas: genomic profile comparison reveals acquisition of biologically relevant aberrations

    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...

    Halka Lhotska, Zuzana Zemanova, Hana Cechova, Sarka Ransdorfova, Karla Svobodova, Filip Kramar, Zdenek Krejcik and Kyra Michalova

    Molecular Cytogenetics 2016 9:13

    Published on: 9 February 2016

  8. Research

    Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K)

    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...

    Beata Grygalewicz, Renata Woroniecka, Jolanta Rygier, Klaudia Borkowska, Iwona Rzepecka, Martyna Łukasik, Agnieszka Budziłowska, Grzegorz Rymkiewicz, Katarzyna Błachnio, Beata Nowakowska, Magdalena Bartnik, Monika Gos and Barbara Pieńkowska-Grela

    Molecular Cytogenetics 2016 9:1

    Published on: 6 January 2016

  9. Case report

    Blast crisis Ph+ chronic myeloid leukemia with NUP98/HOXA13 up-regulating MSI2

    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...

    Danika Di Giacomo, Valentina Pierini, Gianluca Barba, Veronica Ceccarelli, Alba Vecchini and Cristina Mecucci

    Molecular Cytogenetics 2014 7:42

    Published on: 20 June 2014

  10. Case report

    Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results

    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...

    Morteza Hemmat, Weina Chen, Arturo Anguiano, Mohammed El Naggar, Frederick K Racke, Dan Jones, Yongbao Wang, Charles M Strom, Karl Chang and Fatih Z Boyar

    Molecular Cytogenetics 2014 7:35

    Published on: 27 May 2014

  11. Research

    Polyploidy in myelofibrosis: analysis by cytogenetic and SNP array indicates association with advancing disease

    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 (...

    Nisha R Singh, Christine M Morris, Mary Koleth, Kelly Wong, Christopher M Ward and William S Stevenson

    Molecular Cytogenetics 2013 6:59

    Published on: 17 December 2013

  12. Research

    Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms

    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...

    Roberto Valli, Barbara Pressato, Cristina Marletta, Lydia Mare, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali and Emanuela Maserati

    Molecular Cytogenetics 2013 6:56

    Published on: 12 December 2013

  13. Case report

    A case of acute myeloid leukemia (AML) with an unreported combination of chromosomal abnormalities: gain of isochromosome 5p, tetrasomy 8 and unbalanced translocation der(19)t(17;19)(q23;p13)

    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...

    Christian Paar, Gabriele Herber, Daniela Voskova, Michael Fridrik, Herbert Stekel and Jörg Berg

    Molecular Cytogenetics 2013 6:40

    Published on: 30 September 2013

  14. Case report

    Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review

    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 ...

    Katya Gancheva, Andres Virchis, Julie Howard-Reeves, Nick CP Cross, Diana Brazma, Colin Grace, Paul Kotzampaltiris, Fedra Partheniou and Elisabeth Nacheva

    Molecular Cytogenetics 2013 6:39

    Published on: 20 September 2013

  15. Letter to Editor

    Down-regulation of miR-181c in imatinib-resistant chronic myeloid leukemia

    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...

    Neda Mosakhani, Satu Mustjoki and Sakari Knuutila

    Molecular Cytogenetics 2013 6:27

    Published on: 16 July 2013

  16. Case report

    A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia

    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...

    Walid Al-achkar, Abdulsamad Wafa, Faten Moassass and Moneeb Abdullah Kassem Othman

    Molecular Cytogenetics 2012 5:36

    Published on: 20 August 2012

  17. Case report

    BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease

    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 ...

    Mohamed M Elnaggar, Sally Agersborg, Trilochan Sahoo, Ati Girgin, Wanlong Ma, Ronjay Rakkhit, Isabel Zorrilla and Alexis Leal

    Molecular Cytogenetics 2012 5:23

    Published on: 1 May 2012

  18. Methodology

    CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

    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...

    Ruth N MacKinnon, Carly Selan, Adrian Zordan, Meaghan Wall, Harshal Nandurkar and Lynda J Campbell

    Molecular Cytogenetics 2012 5:10

    Published on: 2 February 2012

  19. Research

    Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia

    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...

    Renu Bajaj, Fang Xu, Bixia Xiang, Katherine Wilcox, Autumn J DiAdamo, Rachana Kumar, Alexandra Pietraszkiewicz, Stephanie Halene and Peining Li

    Molecular Cytogenetics 2011 4:3

    Published on: 20 January 2011