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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 hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions.

    Authors: Lijuan Zhang, YuYe Shi, Yue Chen, Shandong Tao, Wenting Shi, Zhengmei He, Kankan Chen, Chunling Wang and Liang Yu

    Citation: Molecular Cytogenetics 2021 14:52

    Content type: Research

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  2. Relapsed acute myeloid leukemia (AML) is associated with the acquisition of additional somatic mutations which are thought to drive phenotypic adaptability, clonal selection and evolution of leukemic clones du...

    Authors: Yuslina Mat Yusoff, Fadly Ahid, Zahidah Abu Seman, Julia Abdullah, Nor Rizan Kamaluddin, Ezalia Esa and Zubaidah Zakaria

    Citation: Molecular Cytogenetics 2021 14:45

    Content type: Research

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  3. Hepatocellular carcinoma (HCC) is the most common type of liver cancer that occurs predominantly in patients with previous liver conditions. In the absence of an ideal screening modality, HCC is usually diagno...

    Authors: Arman Shahrisa, Maryam Tahmasebi-Birgani, Hossein Ansari, Zahra Mohammadi, Vinicio Carloni and Javad Mohammadi Asl

    Citation: Molecular Cytogenetics 2021 14:33

    Content type: Research

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  4. The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3–5 % of cases with additional chromosomal abnormalities...

    Authors: Shiba Ranjan Mishra, Leena Rawal, Moneeb A. K. Othman, Atul Thatai, Aditi Sarkar, Vandana Lal and Saurabh Kumar Bhattacharya

    Citation: Molecular Cytogenetics 2021 14:28

    Content type: Case Report

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  5. Acute myeloid leukemia (AML) is rare in children. Although complex karyotype (CK) defined as ≥ 3 cytogenetic abnormalities is an adverse risk factor in adult AML, its prognostic impact on childhood AML remains...

    Authors: Xi Chen, Xingjuan Wang, Hu Dou, Zhenzhen Yang, Junqin Bi, Yi Huang, Ling Lu, Jie Yu and Liming Bao

    Citation: Molecular Cytogenetics 2021 14:27

    Content type: Research

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  6. Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different p...

    Authors: Mostafa Paridar, Kazem Zibara, Seyed Esmaeil Ahmadi, Abbas Khosravi, Maral Soleymani, Ebrahim Azizi and Omid Kiani Ghalesardi

    Citation: Molecular Cytogenetics 2021 14:24

    Content type: Research

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  7. Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myelo...

    Authors: Ahmed Maseh Haidary, Zeeshan Ansar Ahmed, Jamshid Abdul-Ghafar, Soma Rahmani, Sarah Noor, Farahnaz Erfani, Maryam Ahmad, Naeem Lakanwall, Haider Ali Malakzai, Abdul Sami Ibrahimkhil, Esmatullah Esmat, Mujtaba Haidari, Nimattullah Yousufzai, Samuel Sharif and Abdul Hadi Saqib

    Citation: Molecular Cytogenetics 2021 14:16

    Content type: Case Report

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  8. Mixed phenotype acute leukemia (MPAL) is an uncommon type of leukemia. It is one kind of malignant clonal diseases that expresses more than one genealogical specific antigen simultaneously. Most MPAL patients ...

    Authors: Xiaolong Zheng, Huafei Shen, Mingyu Zhu, Yuanfei Shi, Huanping Wang, Zhimei Chen, Xin Huang, Yungui Wang, Jie Jin and Wanzhuo Xie

    Citation: Molecular Cytogenetics 2021 14:10

    Content type: Case Report

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  9. Mantle cell lymphoma (MCL) is derived from naïve CD5+ B-cells with the cytogenetic hallmark translocation 11;14. The presence of additional abnormalities is associated with blastoid variants in MCL (BMCL) and ...

    Authors: Veronica Ortega, Christina Mendiola, Juana Rodriguez, William Ehman Jr., You-Wen Qian and Gopalrao Velagaleti

    Citation: Molecular Cytogenetics 2021 14:8

    Content type: Case Report

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  10. Breast cancer (BC), one of the most frequent human tumors, is genetically and histologically heterogeneous. Treatment options can be adapted according to BC subtype. Still, research is necessary to characteriz...

    Authors: Shaymaa Azawi, Martina Rincic and Thomas Liehr

    Citation: Molecular Cytogenetics 2021 14:7

    Content type: Research

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  11. Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it ...

    Authors: Beyhan Durak Aras, Sevgi Isik, Hava Uskudar Teke, Abdulvahap Aslan, Filiz Yavasoglu, Zafer Gulbas, Fatih Demirkan, Hulya Ozen, Oguz Cilingir, Nur Sena Inci, Gulcin Gunden, Tuba Bulduk, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan and Olga Meltem Akay

    Citation: Molecular Cytogenetics 2021 14:2

    Content type: Research

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  12. The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region a...

    Authors: Ruth N. MacKinnon, Joanne Peverall, Lynda J. Campbell and Meaghan Wall

    Citation: Molecular Cytogenetics 2020 13:50

    Content type: Research

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  14. B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL case...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:44

    Content type: Case Report

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  16. Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements t...

    Authors: Sinhue Alejandro Brukman-Jimenez, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Pablo Alejandro Chávez-Panduro, Citlalli Ortega-de-la-Torre, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Lucero Mendoza-Maldonado, Fernando Antonio Sánchez-Zubieta and Alfredo Corona-Rivera

    Citation: Molecular Cytogenetics 2020 13:41

    Content type: Case Report

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  17. Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diag...

    Authors: Meng Liu, Yuan Ren, Xianfu Wang, Xianglan Lu, Ming Li, Young Mi Kim, Shibo Li and Lijun Zhang

    Citation: Molecular Cytogenetics 2020 13:37

    Content type: Research

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  18. Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphom...

    Authors: Monika Włodarczyk and Monika Lejman

    Citation: Molecular Cytogenetics 2020 13:35

    Content type: Case Report

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  19. Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution. Additional genetic abnormalities are seen in 10–20% of CML cases at the time of diagnosis, and in 60–80% of...

    Authors: Jin-Ying Gong, Zhen-Hao Zhang, Wei Zhang, Hui-Jun Wang, Xiao-Fang Feng, Ji Zhou and Guo-Qing Zhu

    Citation: Molecular Cytogenetics 2020 13:34

    Content type: Short report

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  20. Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bo...

    Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski and Olga Haus

    Citation: Molecular Cytogenetics 2020 13:33

    Content type: Case Report

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  21. About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 20...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:29

    Content type: Case Report

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  22. Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL b...

    Authors: Jéssica Almeida Batista-Gomes, Fernando Augusto Rodrigues Mello Jr, Edivaldo Herculano Corrêa de Oliveira, Michel Platini Caldas de Souza, Alayde Vieira Wanderley, Laudreisa da Costa Pantoja, Ney Pereira Carneiro dos Santos, Bruna Cláudia Meireles Khayat and André Salim Khayat

    Citation: Molecular Cytogenetics 2020 13:25

    Content type: Short report

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  23. Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution...

    Authors: Ya-Qi Tan, Yue-Qiu Tan and De-Hua Cheng

    Citation: Molecular Cytogenetics 2020 13:15

    Content type: Case Report

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  24. Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favo...

    Authors: Lili Lv, Jingwei Yu and Zhongxia Qi

    Citation: Molecular Cytogenetics 2020 13:4

    Content type: Case Report

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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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  49. 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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