Cancer genetics

  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. 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

  3. Case Report

    Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis

    Constitutional translocations between sex chromosomes are rather rare in humans with breakpoints at Xp11 and Yq11 as the most frequent. Breakpoints on the short arm of the Y chromosome form one subgroup of t(X...

    Lenka Pavlistova, Silvia Izakova, Zuzana Zemanova, Lucie Bartuskova, Martina Langova, Pavlina Malikova and Kyra Michalova

    Molecular Cytogenetics 2016 9:67

    Published on: 31 August 2016

  4. Research

    Sex chromosome loss after allogeneic hematopoietic stem cell transplant in patients with hematologic neoplasms: a diagnostic dilemma for clinical cytogeneticists

    Sex chromosome loss (SCL), including loss of an X chromosome (-X) in females and loss of the Y chromosome (-Y) in males, resulting in a karyotype of 45,X, rarely occurs in patients post an allogeneic hematopoi...

    Zhenya Tang, L. Jeffrey Medeiros, C. Cameron Yin, Wei Wang, Xinyan Lu, Ken H. Young, Joseph D. Khoury and Guilin Tang

    Molecular Cytogenetics 2016 9:62

    Published on: 8 August 2016

  5. Short report

    Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma

    Despite progression in treatment of gastric cancer, prognosis of patients remains poor, in part due to the low rate of diagnosis during its early stages. This paradigm implies the necessity to identify molecul...

    T. M. Araújo, A. D. Seabra, E. M. Lima, P. P. Assumpção, R. C. Montenegro, S. Demachki, R. M. Burbano and A. S. Khayat

    Molecular Cytogenetics 2016 9:52

    Published on: 29 June 2016

  6. Case Report

    Simultaneous deletion of 3′ETV6 and 5′EWSR1 genes in blastic plasmacytoid dendritic cell neoplasm: case report and literature review

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal...

    Zhenya Tang, Guilin Tang, Sa A. Wang, Xinyan Lu, Ken H. Young, Carlos E. Bueso-Ramos, Yesid Alvarado, L. Jeffrey Medeiros and Joseph D. Khoury

    Molecular Cytogenetics 2016 9:23

    Published on: 27 February 2016

  7. 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

  8. 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

  9. 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

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