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Review

The current state of molecular cytogenetics in cancer diagnosis

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References

  • Grati FR, Malvestiti F, Grimi B, et al. QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses. Prenat Diagn 2013;33:502-8
  • Liehr T. Fluorescence in situ hybridization (FISH): when and how to do? How to interpret? How to counsel? In: Sheth J, Sheth F, editors. Genetics in clinical practice: symptoms, diagnosis and therapy. Jaypee Brothers Medical Publishers (P) ltd., New Delhi: 2014. p. 73-92
  • Yano CF, Bertollo LA, Molina WF, et al. Genomic organization of repetitive DNAs and its implications for male karyotype and the neo-Y chromosome differentiation in Erythrinus erythrinus (Characiformes, Erythrinidae). Comp Cytogenet 2014;8:139-51
  • Tomas PA, González GE, Schrauf GE, Poggio L. Chromosomal characterization in native populations of Elymus scabrifolius from Argentina through classical and molecular cytogenetics (FISH-GISH). Genome 2012;55:591-8
  • Gebhart E. Tumorzytogenetik. Schattauer Verlag, Stuttgart, New York: 1989
  • Davidsson J. The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way? Epigenomics 2014;6:45-58
  • Mendel JG. Versuche über. Pflanzenhybriden. Verhandl Naturforsch Verein Brünn 1865;4:3-47
  • Schlegelberger B. In memoriam: prof. Dr. rer. nat. Dr. med. h.c. Lore Zech; 24.9.1923 - 13.3.2013: Honorary member of the European Society of Human Genetics, Honorary member of the German Society of Human Genetics, Doctor laureate, the University of Kiel, Germany. Mol Cytogenet 2013;6:20
  • Liehr T, Pellestor F. Molecular cytogenetics: the standard FISH and PRINS procedure. In: Liehr T, editor. Fluorescence in situ Hybridization (FISH) – Application Guide. Springer, Berlin: 2009. p. 23-34
  • Gebhart E, Liehr T. Patterns of genomic imbalances in human solid tumors (Review). Int J Oncol 2000;16:383-99
  • Vermeesch JR. Array CGH: opening new horizons. In: Liehr T, editor. Fluorescence in situ Hybridization (FISH) – Application Guide. Springer, Berlin: 2009. p. 421-40
  • Mäbert K, Cojoc M, Peitzsch C, et al. Cancer biomarker discovery: current status and future perspectives. Int J Radiat Biol 2014;90:659-77
  • Liehr T. Basics and literature on multicolor fluorescence in situ hybridization application. Available from: http://fish-tl.com/mfish.html [Accessed 11 November 2014]
  • Liehr T, Heller A, Starke H, Claussen U. FISH banding methods: applications in research and diagnostics. Expert Rev Mol Diagn 2002;2:217-25
  • Le Scouarnec S, Gribble SM. Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity (Edinb) 2012;108:75-85
  • Forment JV, Kaidi A, Jackson SP. Chromothripsis and cancer: causes and consequences of chromosome shattering. Nat Rev Cancer 2012;12:663-70
  • Huret J-L. Atlas of Genetics and Cytogenetics in Oncology and Haematology. Available from: http://atlasgeneticsoncology.org [Accessed 11 November 2014]
  • Mitelman F. Database of Chromosome Aberrations and Gene Fusions in Cancer. Available from: http://cgap.nci.nih.gov/Chromosomes/Mitelman) [Accessed 11 November 2014]
  • Achkar WA, Wafa A, Aljapawe A, et al. Acquired del(9)(p22.3) in a primary plasma cell leukemia. Mol Cytogenet 2013;6:33
  • Marques-Salles T de J, Barros JE, Soares-Ventura EM, et al. Unusual childhood biphenotypic acute leukemia with a yet unreported t(3;13)(p25.1;q13). Leuk Res 2010;34:e206-7
  • Poddighe PJ, Wessels H, Merle P, et al. Genomic amplification of MYC as double minutes in a patient with APL-like leukemia. Mol Cytogenet 2014;7:67
  • Tibiletti MG. Interphase FISH as a new tool in tumor pathology. Cytogenet Genome Res 2007;118:229-36
  • Semrau S, Crosetto N, Bienko M, et al. FuseFISH: robust detection of transcribed gene fusions in single cells. Cell Rep 2014;6:18-23
  • Scheie D, Andresen PA, Cvancarova M, et al. Fluorescence in situ hybridization (FISH) on touch preparations: a reliable method for detecting loss of heterozygosity at 1p and 19q in oligodendroglial tumors. Am J Surg Pathol 2006;30:828-37
  • Malek S. Molecular biomarkers in chronic lymphocytic leukemia. Adv Exp Med Biol 2013;792:193-214
  • Liehr T. Benign & pathological chromosomal imbalances. Microscopic and submicroscopic copy number variations (CNVs) in genetics and counseling. 1st edition. Academic Press, New York: 2014
  • Fuehrer M, Gerusel-Bleck M, Konstantopoulos N, et al. FISH analysis of native smears from bone marrow and blood for the monitoring of chimerism and clonal markers after stem cell transplantation in children. Int J Mol Med 2005;15:291-7
  • Wan TS. Cancer cytogenetics: methodology revisited. Ann Lab Med 2014;34:413-25
  • Tohami T, Nagler A, Amariglio N. Laboratory tools for diagnosis and monitoring response in patients with chronic myeloid leukemia. Isr Med Assoc J 2012;14:501-7
  • Erlecke J, Hartmann I, Hoffmann M, et al. Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells. Mol Cytogenet 2009;2:12
  • Abbott/Vysis, Abbott Park, Illinois, USA. Available from: https://www.abbottmolecular.com/us/products/analyte-specific-reagents/fish/vysis-lsi-probes.html [Accessed 11 November 2014]
  • CytoCell, Cambridge, UK. Available from: http://www.cytocell.co.uk/products/aquarius/haematology-probes/ [Accessed 11 November 2014]
  • DAKO/Agilent, Hamburg, Germany. Available from: http://www.dako.com/de/ar42/pg740/productsubgroups.htm [Accessed 11 November 2014]
  • Empire Genomics, Kanagawa, Japan. Available from: http://www.empiregenomics.com/store/gene_fish_probes?gclid=CM-a9MT7ksICFYbKtAodg2oALQ [Accessed 11 November 2014]
  • Kreatech/Leica, Nussloch, Germany. Available from: http://ecomed.sk/ckfinder/userfiles/files/Kreatech_Catalogue2013.pdf [Accessed 11 November 2014]
  • MetaSystems, Altlussheim, Germany. Available from: http://www.metasystems-international.com/xcyting-dna-probes/xl [Accessed 11 November 2014]
  • Zytovision, Bremerhaven, Germany. Available from: http://www.zytovision.com/index.php/zytolight/21-zytolight-fish-introduction [Accessed 11 November 2014]
  • Haferlach T. Molecular genetics in myelodysplastic syndromes. Leuk Res 2012;36:1459-62
  • Alhourani E, Rincic M, Othman MAK, et al. Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH). Mol Cytogenet 2014;7:79
  • Morrissette JJ, Bagg A. Acute myeloid leukemia: conventional cytogenetics, FISH, and moleculocentric methodologies. Clin Lab Med 2011;31:659-86
  • Bacher U, Schnittger S, Haferlach C, Haferlach T. Molecular diagnostics in acute leukemias. Clin Chem Lab Med 2009;47:1333-41
  • Harrison CJ. Cytogenetics of paediatric and adolescent acute lymphoblastic leukaemia. Br J Haematol 2009;144:147-56
  • Giagounidis A, Haase D. Morphology, cytogenetics and classification of MDS. Best Pract Res Clin Haematol 2013;26:337-53
  • Das K, Tan P. Molecular cytogenetics: recent developments and applications in cancer. Clin Genet 2013;84:315-25
  • Nedomova R, Papajik T, Prochazka V, et al. Cytogenetics and molecular cytogenetics in diffuse large B-cell lymphoma (DLBCL). Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2013;157:239-47
  • Ochs RC, Bagg A. Molecular genetic characterization of lymphoma: application to cytology diagnosis. Diagn Cytopathol 2012;40:542-55
  • Nanjangud G, Amarillo I, Rao PN. Solid tumor cytogenetics: current perspectives. Clin Lab Med 2011;31:785-811
  • Busam KJ. Molecular pathology of melanocytic tumors. Semin Diagn Pathol 2013;30:362-74
  • Carless MA, Griffiths LR. Cytogenetics of melanoma and nonmelanoma skin cancer. Adv Exp Med Biol 2014;810:160-81
  • Neat MJ, Foot NJ, Hicks A, et al. ALK rearrangements in EBUS-derived transbronchial needle aspiration cytology in lung cancer. Cytopathology 2013;24:356-64
  • Thibault C, Khodari W, Lequoy M, et al. HER2 status for prognosis and prediction of treatment efficacy in adenocarcinomas: a review. Crit Rev Oncol Hematol 2013;88:123-33
  • Pathmanathan N, Bilous AM. HER2 testing in breast cancer: an overview of current techniques and recent developments. Pathology 2012;44:587-95
  • Mkrtchyan H, Gross M, Hinreiner S, et al. The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics 2010;11:426-31
  • Hömig-Hölzel C, Savola S. Multiplex ligation-dependent probe amplification (MLPA) in tumor diagnostics and prognostics. Diagn Mol Pathol 2012;21:189-206
  • Mousa S, Mostafa S, Shaheen I, Elnoshokaty E. Detection of trisomy 4 and 10 in Egyptian pediatric patients with acute lymphoblastic leukemia. Clin Lab 2014;60:609-14
  • Liehr T, Starke H, Weise A, et al. Multicolor FISH probe sets and their applications. Histol Histopathol 2004;19:229-37
  • Zhou GN, Chen BA. M-FISH technique in diagnosis and prognostic analysis for acute leukemia with complex chromosomal aberrations. Zhongguo Shi Yan Xue Ye Xue Za Zhi 2010;18:246-9
  • Liehr T, Weise A, Hamid AB, et al. Multicolor FISH methods in current clinical diagnostics. Expert Rev Mol Diagn 2013;13:251-5
  • Bacher U, Haferlach C, Schnittger S, et al. Diagnostics of acute leukemias: interaction of phenotypic and genetic methods. Pathologe 2012;33:528-38
  • Simons A, Sikkema-Raddatz B, de Leeuw N, et al. Genome-wide arrays in routine diagnostics of hematological malignancies. Hum Mutat 2012;33:941-8
  • Kohlmann A, Grossmann V, Nadarajah N, Haferlach T. Next-generation sequencing - feasibility and practicality in haematology. Br J Haematol 2013;160:736-53
  • Godley LA, Cunningham J, Dolan ME, et al. An integrated genomic approach to the assessment and treatment of acute myeloid leukemia. Semin Oncol 2011;38:215-24
  • Manvelyan M, Kempf P, Weise A, et al. Preferred co-localization of chromosome 8 and 21 in myeloid bone marrow cells detected by three dimensional molecular cytogenetics. Int J Mol Med 2009;24:335-41
  • Othman MA, Rincic M, Melo JB, et al. A novel cryptic three-way translocation t(2;9;18)(p23.2;p21.3;q21.33) with deletion of tumor suppressor genes in 9p21.3 and 13q14 in a T-cell acute lymphoblastic leukemia. Leuk Res Treatment 2014;2014:357123
  • Al-Achkar W, Wafa A, Othman MA, et al. An adult B-cell precursor acute lymphoblastic leukemia with multiple secondary cytogenetic aberrations. Mol Cytogenet 2014;7:60
  • Matos RR, Mkrtchyan H, Amaral BA, et al. An unusual cytogenetic rearrangement originating from two different abnormalities in chromosome 6 in a child with acute promyelocytic leukemia. Acta Haematol 2013;130:23-6
  • Serra A, Eirich K, Winkler AK, et al. Shared copy number variation in simultaneous nephroblastoma and neuroblastoma due to Fanconi anemia. Mol Syndromol 2012;3:120-30
  • De Braekeleer E, Douet-Guilbert N, Basinko A, et al. Using bacterial artificial chromosomes in leukemia research: the experience at the university cytogenetics laboratory in Brest, France. J Biomed Biotechnol 2011;2011:329471
  • Armstrong AC, Evans GD. Management of women at high risk of breast cancer. BMJ 2014;348:g2756
  • Cobilanschi J. Genetic diagnostics of cancer diseases. Praxis (Bern 1994) 2013;102:1475-82
  • Kristoffersson U, Schmidtke J, Cassiman JJ. editors. Quality issues in clinical genetic services. Springer; Berlin: 2010
  • Liehr T. Small supernumerary marker chromosomes (sSMC). A guide for human geneticists and clinicians; With contributions by UNIQUE (The Rare Chromosome Disorder Support Group). Springer; Berlin: 2012
  • Boersma-Vreugdenhil GR, Peeters T, Bast BJ, Lokhorst HM. Translocation of the IgH locus is nearly ubiquitous in multiple myeloma as detected by immuno-FISH. Blood 2003;101:1653

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