2008 Barcelona - European Society of Human Genetics

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Cancer genetics P04.103 integrated cGH and microRNA analysis in mantle cell Lymphoma reveals miRNA signatures associated with specific cytogenetic changes C. Gomez-Abad 1 , L. Di Lisio 1 , N. Martinez 1 , B. Ferreira 2 , E. Rodriguez 1 , M. Sanchez-Beato 1 , J. Cruz Cigudosa 2 , M. A. Piris 1 ; 1 Lymphomas Group, Molecular Pathology Program, CNIO, Madrid, Spain, 2 Cytogenetics Group. Human Cancer Genetic Program. CNIO, Madrid, Spain. Mantle Cell Lymphoma (MCL) is characterized by a t(11;14) translocation, which leads to Cyclin D1 overexpression . Although CGH and Expression profiling data in MCL has been investigated, until now no equivalent studies have been performed for miRNA . Here we explored the relation between miRNA expression profiling and CGH microarray data from a series of 20 MCL cases and 5 reactive tonsils MCL presents a unique miRNA signature revealing overexpression of 15 miRNAs and downregulation of 50 miRNAs in at least 50% of the cases, when compared with the average expression level of the controls . Some of these miRNAs have already been described in other tumor types, such as miR-143 and miR-145 downregulated in B-cell malignancies . CGH analysis in this series identifies a series of changes, roughly coinciding with thise described . We have investigated whether chromosomal gains and losses could explain the miRNA MCL signature . A microRNA profile has been identified as associated to the most frequently chromosomal aberration described in MCL . Thus losses of 9p21-pter, 1p, 13q, 11q21; and gains of 15q and 3q were associated with distinctive miRNA changes . Taken together, MCL seems to combine a disease-specific miRNA signature that correlates with specific chromosomal changes. P04.104 A rare karyotype including t(2;17) in a patient with myelodysplastic syndrome-derived acute myeloblastic leukemia F. Hazan, H. Akin, A. Vahabi, A. Alpman, F. F. Ozkinay, C. Ozkinay; Ege University Medical Faculty Medical Genetics Department, İzmir, Turkey. Myelodysplastic syndrome (MDS) is a clonal disorder characterized by dyshematopoiesis and high susceptibility to acute myeloid leukemia (AML). Complex chromosomal aberrations are present in ≤30% of patients with primary myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) and are associated with a poor prognosis . We report a 45 year-old patient with MDS-AML . The Wright-Giemsa stained peripheral blood smears showed blast cells (WBC: 3180/mm3, Hb: 9 .69g/dl, Plt: 21100/mm3) . An abnormal karyotype 44,XX, t(2;17),-16,-18 was obtained on G-banded metaphases from unstimulated bone marrow aspirate cell culture . Cytogenetic studies of AML showed that isolated -16 and -18 were significantly more common. To our knowledge, isolated t(2;17) is not described in AML to date. This is the first report of a patient presenting with a AML with t(2;17),-16,-18 . We evaluated the outcome of the treatment and the prognosis of the patient . As in our patient, this rare karyotype may be associated with poor prognosis . P04.105 Increased incidence of monoclonal B-cell infiltrate in chronic myeloproliferative disorders. Report of four cases S. N. Kokkinou, K. Tzanidakis, A. Lindou, H. Alafaki, G. Floropoulou, R. Hatzikyriakou, G. Drosos; Cytogenetic Unit, Sismanoglion General Hospital, Halandri, Greece. INTRODUCTION: The coexistence of chronic myeloproliferative disorder(CMPD)and B-cell chronic lymphocytic leukemia(CLL)in the same patient is rare . AIM OF THE STUDY: We report 4 cases of CMPD/CLL simultaneously occurred . PATIENTS 1 st patient:An Albanian man 57y with polycythemia Vera(PV) . 2 nd patient:A woman73y with essential thrombocytosis (ET) 3 rd patient:A man 83y with ET 4 th patient:A man 78y with ET In paraffin sections of the bone marrow samples was found 15-18% of monoclonal lymphocytic infiltrate CD5+,CD23+,CD10-,CD3-,ZAP-70- ,CD79+simultaneously with the findings of CMPD. The patients were untreated and the trephine biopsies derived from the primary diagnostic procedure .In the Albanian patient a cervical lymph node(LN)was biopsied and the cell population was of Borigin METHODS: Bone marrow specimens(BM)and PB lymphocytes were cultured using standard techniques .Thirty GTG banded metaphases were analyzed (ISCN2005) . RESULTS: The karyotypes looked normal .For FISH we used the LSI IGH dual color, break apart rearrangement probe, LSI BCR/ABL ES dual color translocation probe and WCP CEP-8(VYSIS) . Two hundred interphase nuclei were counted .Up to25% of the cells carried the BCR/ABL translocation,and the IGH rearrangement . There was also monosomy of #8 in more than 10% of the cells CONCLUSIONS: Although the coexistence of CMPDand CLL is rare,we established that these two conditions in the PB,in the BM and in one LN is more frequent than expected .That implies that there is a predisposition for the development of monoclonal B-cell population . With FISH technique we demonstrated the coexistence of two diseases .Since we studied simultaneously PB,BM and a LN,we believe that CMPD and CLLsupport the hypothesis of multi step cancerogenesis P04.106 molecular cytogenetic study of 69 patients with myelodysplastic syndromes and complex chromosomal aberrations Z. Zemanova 1 , J. Brezinova 2 , L. Babicka 1 , S. Izakova 2 , M. Siskova 3 , J. Cermak 2 , K. Michalova 1,2 ; 1 Center of Oncocytogenetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic, 2 Institute of Hematology and Blood Transfusion, Prague, Czech Republic, 3 1st Medical Department, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. Complex chromosomal aberrations (CCA) are detected in 10-20% patients with myelodysplastic syndromes (MDS), and are associated with drug resistance and poor outcome. Precise identifications of chromosomal regions involved in CCA could help in detection of cryptic, recurrent, prognostically significant aberrations and in identification of candidate genes involved in leukemogenesis . During the last 6 years 590 patients with MDS were examined at diagnosis and in 69 of them CCA were ascertained . Chromosomal aberrations were verified by FISH with locus specific probes (Abbott-Vysis, Des Plaines, Illinois, USA), and by mFISH/mBAND with the “XCyte” probe kits (MetaSystems, Altlussheim, Germany) . The most frequently involved in complex rearrangements was chromosome 5 (58x) followed by chromosomes 3 (27x), 17 (25x), 12 (23x), 11 (20x) and 7 (20x) . Parts of deleted chromosome 5 were in many cases translocated into other chromosomes . The most recurrent partners of chromosome 5 in translocation were chromosomes 17 (6x), 12 (6x), 3 (3x) and 7 (3x) . Pure monosomy of chromosome 5 was proved in one case only thus showing that monosomy 5 in this cohort was not an isolated entity . The most frequent breakpoints were 5q31 (25x), 5q13 .3 (24x), 5q12 (5x) and 5q14 (5x) . Presence of CCA at diagnosis was connected with poor response to therapy and short survival (mean 5 months) . Finding of new chromosomal rearrangements and breakpoints might lead to discovery of genes, involved not only at the origin but also into pathways leading to progress of malignancy . Supported by NR/9227-3, NR/9481-3, MZO 000064165, MSM 0021620808 and MSMT LC535. P04.107 trisomy 9: A rare chromosomal abnormality in mDs D. Pathak 1 , R. Chaubey 2 , R. Kumar 1 , S. Sazawal 2 , R. Saxena 2 , R. Dada 1 ; 1 Lab for Molecular Reproduction and Genetics, Deptt of Anatomy, All India Institute of Medical Sciences, New Delhi, India, 2 Deptt of Hematology, All India Institute of Medical Sciences, New Delhi, India. Myelodysplastic Syndrome (MDS) is a clonal disorder of haematopoietic stem cells and result in progressive cytopenia and defects in erythroid, myeloid and megakaryocytic maturation . Clonal chromosomal abnormalities have been reported in 30 to 60% cases of MDS . As a result conventional cytogenetics plays a prominent and well established role in determining the contemporary diagnosis, prognosis and grading of this disorder . The chromosomal abnormalities are predominantly characterized by partial/ total chromosomal loses or chromosomal gains . The chromosomal abnormalities include mainly -5/del (5q),-7/del (7q), del (11q), del (12p)/ (12q),-y and +8 . In an attempt to assess the frequency and type of cytogenetic abnormalities, cytogenetic analyses of 20 cases of MDS was done . Chromosomes
Cancer genetics preparations were obtained by GTG banding of blood and bone marrow cells . On presentation 30% of cases revealed 46, XX and 46, XY normal karyotypes and 70% of cases revealed abnormal karyotypes del(5q),-7,del(6q),del (11q) .Out of 20 cases 1 case revealed an addition of chromosome 9, 47,XX+9(90%) and 46,XX(10%) metaphase . Trisomy 9 is a rare chromosomal aberration found in MDS, to the best of our knowledge this is the first published report of trisomy 9 as a sole chromosomal aberration in MDS . The presence of trisomy 9 in such cases carries a poor prognosis and thus cytogenetic studies help to correlate the genotype with the phenotype . P04.108 Complex cytogenetic findings in bone marrow of an elderly patient with chronic idiopathic myelofibrosis T. Bulakbasi 1 , M. K. Yuksel 2 , Z. Yilmaz 1 , F. I. Sahin 1 ; 1 Baskent University Faculty of Medicine Department of Medical Genetics, Ankara, Turkey, 2 Dr. Abdurrahman Yurtarslan Oncology Training and Research Hospital, Ankara, Turkey. Chronic idiopathic myelofibrosis is a chronic myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Clonal cytogenetic abnormalities are observed in 30 to 75% of the patients . Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations . Here we report a 70-year-old male patient with massive splenomegaly . His leukocyte count was 2300/mm 3 , hemoglobin 6,5 mg/dl and thrombocyte count 700 000/mm 3 on admission . Bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis and no specific diagnosis was established. During disease classification studies, he received hydroxyurea treatment, splenic radiotherapy and multiple blood transfusions . The clinical course worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of the bone marrow sample revealed a karyotype reported as 46,XY,del(9)(q22q34),t(8;17;21)(q22;q21;q22)[23]/46,XY[2], with a previously undefined three-way translocation and a deletion in chromosome 9 . The patient died shortly thereafter . Karyotype analysis of the bone marrow is an integral part of diagnosis in myeloproliferative disorders, especially as a discriminative tool in ruling out reactive conditions . P04.109 inducible expression of the oncogenic transcription factor EVI in human myeloid cells leads to phenotypes characteristic of myelodysplastic syndromes (mDs) T. Konrad, R. Wieser; Medical University of Vienna, Vienna, Austria. The EVI1 gene, which codes for a zinc finger transcription factor, is overexpressed in subsets of patients with acute myeloid leukemia (AML), chronic myeloid leukemia (CML), and myelodysplastic syndromes (MDS) . Its overexpression in AML has been studied intensively because it is associated with particularly aggressive disease . However, recent bone marrow transduction/transplantation studies in mice have shown that EVI1 overexpression by itself causes MDS, while AML arises only in the presence of additional, cooperating genetic events . To gain a better understanding of the biological properties of EVI1, an HA-tagged version of the human EVI1 cDNA was expressed in human U937 myelomonocytic cells in a tetracycline regulable manner . Induction of EVI1 in this system strongly inhibited cellular multiplication, an effect that was in part due to cell cycle arrest, and in part to increased rates of apoptosis . Exposure of EVI1 expressing cells to differentiation stimuli caused cells to die rather than to differentiate . The c-myc gene, which is implicated in the control of cellular proliferation, was downregulated rapidly after the induction of EVI1, suggesting that it may be a direct target of this transcription factor, and may play a role in its phenotypic effects . The phenotypes observed after induction of EVI1 correspond well to what would be expected for a gene involved in the pathogenesis of MDS, and have also been observed with other MDS-associated oncogenes . We have therefore established a suitable model system to explore the role of EVI1 in the pathogenesis of this fatal disease . P04.110 Familial myelodysplastic syndromes A. Carrió 1,2 , A. Valera 1 , D. Costa 1 , I. Madrigal 2 , C. Gómez 1 , J. L. Aguilar 1 , M. Aymerich 1 , D. Colomer 1 , B. Nomdedéu 3 , E. Montserrat 3,2 , E. Campo 1,2 ; 1 Hematopatology Unit Hospital Clínic, Barcelona, Spain, 2 IDIBAPS, Hospital Clínic, Barcelona, Spain, 3 Hematology Department Hospital Clínic, Barcelona, Spain. The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders of hematopoietic stem cells, whose manifestation is cytopenia, hypercellular and dysplastic bone marrow, often with increased amount of blasts . The pathogenesis of the majority of MDS remains unexplained . It is regarded that genetic predisposition and exposure to toxic environmental agents contribute to genetic mutations in MDS . We report an adult MDS family with 6 siblings, of which two presented myelodysplastic syndrome (MDS), namely refractory cytopenia with multilineage dysplasia (RCMD), at the ages of 37 and 49, respectively . Conventional cytogenetics showed complex karyotypes, at diagnoses, in both: 44,XX,del(5)(q13q33),-7,-9,der(15;21)(q10;q10),-21,+mar[9]/ 46,XX[10] in the propositus, and 46,XY,-3,del(5)(q13q35),+8,der(12 )t(3;12)(q13;p13) [20] in the second one . The propositus developed acute leukaemia and underwent an allogenic transplantation of peripheral blood progenitor cells . She relapsed and eventually died of sepsis eight months post-transplantation . In order to know the status of the 4 other siblings, we performed morphological and cytogenetics bone marrow analyses . Since del(5)(q31q33) was the only chromosomal abnormality common to both complex karyotypes, we decided to investigate all the samples by FISH with the specific probe for 5q31. Surprisingly, we found that in the propositus the deleted chromosome was an i(5)(p10;p10), and one of the healthy brothers showed 12% of deletion 5q . We postulate that in this family an inherited mutator effect is present and that it causes a karyotype instability, which leads to MDS/AML, with an unstable 5 chromosome . P04.111 HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease H. Andrikovics 1 , N. Meggyesi 1 , A. Szilvasi 1 , J. Tamaska 2 , G. Halm 2 , S. Lueff 2 , S. Nahajevszky 2 , M. Egyed 3 , J. Varkonyi 4 , G. Mikala 2 , A. Sipos 2 , L. Kalasz 1 , T. Masszi 2 , A. Tordai 1 ; 1 Hungarian National Blood Transfusion Service, Budapest, Hungary, 2 St. Istvan and St. Laszlo Hospital, Budapest, Hungary, 3 Kaposi Mor Hospital, Kaposvar, Hungary, 4 Semmelweis University, Budapest, Hungary. The Janus kinase 2 (JAK2) V617F point mutation is a common clonal alteration in chronic myeloproliferative disorders (CMPD) . Genetic variations influencing susceptibility of CMPD have not been recognized previously . The aim of our study was (i) to establish V617F mutation status in CMPD patients (ii) to confirm associations with distinct clinical characteristics, and (iii) to examine the potential associations of CMPD development with genetic modifiers of iron metabolism (HFE C282Y, H63D and TFR S142G) . HFE C282Y was genotyped in 328 CMPD-patients and 996 blood donors, HFE H63D and TFR S142G in CMPD patients and 171 first time blood donors. JAK2 V617F mutation was tested in CMPD patients and 122 repeated blood donors . The frequency of JAK2 V617F was 75 .9% (249/328) in the CMPD group . At presentation, significantly elevated hemoglobin levels were found in V617F-positive patients compared to V617F-negative counterparts (p
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Author Index Al-Owain, M.: P06.160
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 0 Peñaloza, R.: P05.2
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Author Index Taschner, P. E. M.: P0
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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