Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia

ABSTRACT Fluorescence _in situ_ hybridization and comparative genomic hybridization characterized 6p rearrangements in eight primary and in 10 secondary myeloid disorders (including one

patient with Fanconi anemia) and found different molecular lesions in each group. In primary disorders, 6p abnormalities, isolated in six patients, were highly heterogeneous with different

breakpoints along the 6p arm. Reciprocal translocations were found in seven. In the 10 patients with secondary acute myeloid leukemia/myelodysplastic syndrome (AML/MDS), the short arm of

chromosome 6 was involved in unbalanced translocations in 7. The other three patients showed full or partial trisomy of the 6p arm, that is, i(6)(p10) (one patient) and dup(6)(p) (two

patients). In 5/7 patients with unbalanced translocations, DNA sequences were overrepresented at band 6p21 as either cryptic duplications (three patients) or cryptic low-copy gains (two

patients). In the eight patients with cytogenetic or cryptic 6p gains, we identified a common overrepresented region extending for 5–6 megabases from the TNF gene to the ETV-7 gene. 6p

abnormalities were isolated karyotype changes in four patients. Consequently, in secondary AML/MDS, we hypothesize that 6p gains are major pathogenetic events arising from acquired and/or

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our FAQs * Contact customer support SIMILAR CONTENT BEING VIEWED BY OTHERS HMGA2 OVEREXPRESSION WITH SPECIFIC CHROMOSOMAL ABNORMALITIES PREDOMINATE IN _CALR AND ASXL1_ MUTATED MYELOFIBROSIS

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Institute libraries RPCI-1, RPCI-3, RPCI-5 and RPCI-11, http://www.chori.org/BACPAC. RP5-1106L7 was kindly provided by Dr M Rocchi, University of Bari, Italy; cosmid Cah5 by Dr E Weiss,

Ludwig Maximilians Universität, München, Germany; and clones RP1-22O11, RP1-99J17, RP1-162J16, RP1-124L9 and RP3-329A5 by Dr I Ragoussis King's College, London, UK. We thank Dr

Geraldine Anne Boyd for assistance in preparing the manuscript. This work was supported by AIRC (Associazione Italiana Ricerca sul Cancro), CNR (Consiglio Nazionale delle Ricerche), MIUR

(Ministero per l’Istruzione, l’Università e la Ricerca Scientifica), Fondazione Cassa di Risparmio, Perugia, Associazione ‘Sergio Luciani’, Fabriano, AULL (Associazione Umbra contro le

Leucemie e Linfomi) Italy; and Belgian Programme of Interuniversity Poles of Attraction initiated by Belgian State, Prime Minister's Office, Science Policy Programming. BC is supported

by a grant from FIRC (Fondazione Italiana per la Ricerca sul Cancro). AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Hematology and Bone Marrow Transplantation Unit, University of Perugia,

Perugia, Italy R La Starza, C Matteucci, B Crescenzi, S Romoli, V Pierini, M F Martelli & C Mecucci * Servei de Hematologia, Hospital De La Santa Creu I Sant Pau, Barcelona, Spain A

Aventin * ‘Istituto Seragnoli’, Hospital S Orsola, Bologna, Italy N Testoni * Hematology Unit, University of Firenze, Firenze, Italy S Ciolli * Laboratory of Health Physics and Environmental

Hygiene, NCSR ‘Demokritos’, Athens, Greece C Sambani * Hematology, Hospital ‘S Camillo’ of Rome, Rome, Italy A Locasciulli * Hematology, Hospital ‘S Bortolo’ Vicenza, Vicenza, Italy E Di

Bona * Laboratoire de Biopathologie, Institut Paoli-Calmettes, INSERM U119, Marseille, France M Lafage-Pochitaloff * Center for Human Genetics and Flanders Interuniversity Institute for

Biotechnology (VIB), University of Leuven, Campus Gasthuisberg, Leuven, Belgium P Marynen Authors * R La Starza View author publications You can also search for this author inPubMed Google

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ARTICLE CITE THIS ARTICLE La Starza, R., Aventin, A., Matteucci, C. _et al._ Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute

myeloid leukemia. _Leukemia_ 20, 958–964 (2006). https://doi.org/10.1038/sj.leu.2404208 Download citation * Received: 11 October 2005 * Revised: 13 February 2006 * Accepted: 27 February 2006

* Published: 13 April 2006 * Issue Date: 01 June 2006 * DOI: https://doi.org/10.1038/sj.leu.2404208 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this

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KEYWORDS * primary and secondary myeloid malignancies * 6p rearrangements * genomic gain