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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.

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  1. Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10),...

    Authors: Abdul Waheed Khan, Antonella Minelli, Annalisa Frattini, Giuseppe Montalbano, Alessia Bogni, Marco Fabbri, Giovanni Porta, Francesco Acquati, Rita Maria Pinto, Elena Bergami, Rossella Mura, Anna Pegoraro, Simone Cesaro, Marco Cipolli, Marco Zecca, Cesare Danesino…

    Citation: Molecular Cytogenetics 2020 13:1

    Content type: Research

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  2. Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) tha...

    Authors: Ina Lee, Mary A. Gudipati, Elizabeth Waters, Vu H. Duong, Maria R. Baer and Ying Zou

    Citation: Molecular Cytogenetics 2019 12:47

    Content type: Case Report

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  3. Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage. Early d...

    Authors: Ilda Patrícia Ribeiro, Joana Barbosa de Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2019 12:33

    Content type: Review

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  4. Acute promyelocytic leukemia (APL) is characterized by fusion of PML/RARα genes as a result of t(15;17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapi...

    Authors: Filomena Nozza, Gabriella Vona, Stefania Trino, Fiorella D’Auria, Francesco La Rocca, Vitina Grieco, Luciana Possidente, Luciana De Luca and Pellegrino Musto

    Citation: Molecular Cytogenetics 2019 12:32

    Content type: Case Report

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  5. Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions...

    Authors: Christoph Standfuß, Jonas Parczyk, Jerome Ruhnau and Andreas Klein

    Citation: Molecular Cytogenetics 2019 12:25

    Content type: Research

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  6. Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor ...

    Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter

    Citation: Molecular Cytogenetics 2019 12:22

    Content type: Research

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  7. Many cancers possess an incorrect number of chromosomes, a state described as aneuploidy. Aneuploidy is often caused by Chromosomal Instability (CIN), a process of continuous chromosome mis-segregation. CIN is...

    Authors: Andréa E. Tijhuis, Sarah C. Johnson and Sarah E. McClelland

    Citation: Molecular Cytogenetics 2019 12:17

    Content type: Review

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  9. Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphom...

    Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor

    Citation: Molecular Cytogenetics 2019 12:3

    Content type: Case Report

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  10. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations ass...

    Authors: Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini and Patricia M. Miron

    Citation: Molecular Cytogenetics 2018 11:56

    Content type: Letter to Editor

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  11. Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, ch...

    Authors: Viviane Lamim Lovatel, Daiane Corrêa de Souza, Tatiana Fonseca Alvarenga, Roberto R. Capela de Matos, Claudia Diniz, Marcia Trindade Schramm, Juan Clinton Llerena Júnior, Maria Luiza Macedo Silva, Eliana Abdelhay and Teresa de Souza Fernandez

    Citation: Molecular Cytogenetics 2018 11:40

    Content type: Case Report

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  12. In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast ...

    Authors: Christine J. Ye, Sarah Regan, Guo Liu, Sarah Alemara and Henry H. Heng

    Citation: Molecular Cytogenetics 2018 11:31

    Content type: Review

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  13. Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute mye...

    Authors: Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog and Walid AL Achkar

    Citation: Molecular Cytogenetics 2018 11:22

    Content type: Case Report

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  14. Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (M...

    Authors: Roberta La Starza, Tiziana Pierini, Lorenza Pastorino, Elisa Albi, Caterina Matteucci, Barbara Crescenzi, Paolo Sportoletti, Piero Covarelli, Franca Falzetti, Giovanni Roti, Stefano Ascani and Cristina Mecucci

    Citation: Molecular Cytogenetics 2018 11:6

    Content type: Case Report

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  15. Copy number variations (CNSs) of large genomic regions are an important mechanism implicated in the development of head and neck cancer, however, for most changes their exact role is not well understood. The a...

    Authors: Boris Zagradišnik, Danijela Krgović, Špela Stangler Herodež, Andreja Zagorac, Bogdan Ćižmarević and Nadja Kokalj Vokač

    Citation: Molecular Cytogenetics 2018 11:5

    Content type: Research

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  16. Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Ide...

    Authors: Theodora Malli, Melanie Rammer, Sabrina Haslinger, Jonathan Burghofer, Sonja Burgstaller, Hans-Christian Boesmueller, Renate Marschon, Wolfgang Kranewitter, Martin Erdel, Sabine Deutschbauer and Gerald Webersinke

    Citation: Molecular Cytogenetics 2018 11:3

    Content type: Case Report

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  17. The majority of the cases of bone marrow failure syndromes/aplastic anaemias (BMFS/AA) are non-hereditary and considered idiopathic (80–85%). The peripheral blood picture is variable, with anaemia, neutropenia...

    Authors: R. Valli, L. Vinti, A. Frattini, M. Fabbri, G. Montalbano, C. Olivieri, A. Minelli, F. Locatelli, F. Pasquali and E. Maserati

    Citation: Molecular Cytogenetics 2018 11:2

    Content type: Research

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  18. Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.

    Authors: Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin

    Citation: Molecular Cytogenetics 2017 10:43

    Content type: Case Report

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  19. ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthe...

    Authors: Rima Koka, Najeebah A. Bade, Edward A. Sausville, Yi Ning and Ying Zou

    Citation: Molecular Cytogenetics 2017 10:39

    Content type: Case Report

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  20. 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...

    Authors: 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

    Citation: Molecular Cytogenetics 2017 10:35

    Content type: Case Report

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  21. Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to i...

    Authors: Fen Zhou, Runming Jin, Yu Hu and Heng Mei

    Citation: Molecular Cytogenetics 2017 10:19

    Content type: Short report

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  22. To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus st...

    Authors: Steffi Urbschat, Christoph Sippl, Jana Engelhardt, Kai Kammers, Joachim Oertel and Ralf Ketter

    Citation: Molecular Cytogenetics 2017 10:16

    Content type: Research

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  23. 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...

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

    Citation: Molecular Cytogenetics 2017 10:13

    Content type: Case Report

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  24. 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...

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

    Citation: Molecular Cytogenetics 2017 10:7

    Content type: Research

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  25. 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.

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

    Citation: Molecular Cytogenetics 2017 10:4

    Content type: Case Report

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  27. Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreo...

    Authors: Ilda Patrícia Ribeiro, Leonor Barroso, Francisco Marques, Joana Barbosa Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2016 9:85

    Content type: Review

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  28. 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...

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

    Citation: Molecular Cytogenetics 2016 9:84

    Content type: Research

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  29. 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...

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

    Citation: Molecular Cytogenetics 2016 9:67

    Content type: Case Report

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  30. Cytogenetic abnormalities are important prognostic markers in plasma cell myeloma (PCM) and detection is routinely performed by interphase fluorescence in-situ hybridization (FISH) with a panel of probes after...

    Authors: Edmond S. K. Ma, Candy L. N. Wang, Anthony T. C. Wong, Gigi Choy and Tsun Leung Chan

    Citation: Molecular Cytogenetics 2016 9:63

    Content type: Methodology

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  31. 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...

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

    Citation: Molecular Cytogenetics 2016 9:62

    Content type: Research

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  32. 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...

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

    Citation: Molecular Cytogenetics 2016 9:52

    Content type: Short report

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  33. BCR-ABL1 fusion proteins contain constitutively active tyrosine kinases that are potential candidates for targeted therapy with tyrosine kinase inhibitors such as imatinib in chronic m...

    Authors: Xiaodong Lyu, Jingke Yang, Xianwei Wang, Jieying Hu, Bing Liu, Yu Zhao, Zhen Guo, Bingshan Liu, Ruihua Fan and Yongping Song

    Citation: Molecular Cytogenetics 2016 9:47

    Content type: Case Report

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  34. 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...

    Authors: 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

    Citation: Molecular Cytogenetics 2016 9:23

    Content type: Case Report

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  35. 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...

    Authors: 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

    Citation: Molecular Cytogenetics 2016 9:20

    Content type: Research

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  36. 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...

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

    Citation: Molecular Cytogenetics 2016 9:13

    Content type: Short report

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  37. 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...

    Authors: 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

    Citation: Molecular Cytogenetics 2016 9:1

    Content type: Research

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  38. 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...

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

    Citation: Molecular Cytogenetics 2014 7:42

    Content type: Case report

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  39. 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...

    Authors: 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

    Citation: Molecular Cytogenetics 2014 7:35

    Content type: Case report

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  40. 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 (...

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

    Citation: Molecular Cytogenetics 2013 6:59

    Content type: Research

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  41. 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...

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

    Citation: Molecular Cytogenetics 2013 6:56

    Content type: Research

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  42. 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...

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

    Citation: Molecular Cytogenetics 2013 6:40

    Content type: Case report

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  43. 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 ...

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

    Citation: Molecular Cytogenetics 2013 6:39

    Content type: Case report

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  45. Acute myelogeneous leukemia (AML) is a malignancy of the hematopoietic stem cells, for which cytogenetic analysis is still one of the most important diagnostic and prognostic tools. Still, we are far away from...

    Authors: Walid Al-achkar, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman and Abdulsamad Wafa

    Citation: Molecular Cytogenetics 2013 6:18

    Content type: Case report

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  46. 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...

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

    Citation: Molecular Cytogenetics 2012 5:36

    Content type: Case report

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  47. 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 ...

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

    Citation: Molecular Cytogenetics 2012 5:23

    Content type: Case report

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  48. About 5-10 % of chronic myelogenous leukemia (CML) patients show variant Philadelphia (Ph) translocations. The formation mechanisms and clinical significance of variant Ph translocations remain unclear. We rep...

    Authors: Sho Yokota, Yuichi Nakamura and Masami Bessho

    Citation: Molecular Cytogenetics 2012 5:20

    Content type: Case report

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  49. 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...

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

    Citation: Molecular Cytogenetics 2012 5:10

    Content type: Methodology

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  50. Myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia, and reflects to defects in erythroid, myeloid and megakaryocytic maturation. MDS is m...

    Authors: Walid Al-Achkar, Abdulsamad Wafa, Elisabeth Klein and Abdulmunim Aljapawe

    Citation: Molecular Cytogenetics 2011 4:16

    Content type: Case report

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