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Cancer genetics

Section information

This section publishes research on the variety and impact of chromosomal aberrations on all types of human cancer. Manuscripts on animal models of tumors are also welcome. Case reports can only be considered if they provide a comprehensive review of the literature or describe an as yet-unreported finding in the corresponding malignancy. The exclusive use of molecular cytogenetic approaches (including array-CGH), or a combination of those with banding cytogenetics, standard molecular genetic or modern high-throughput approaches, or with proteomic or epigenetic studies, is welcome.

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  1. Novel fusion genes such as ZNF384, have been identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in recent years. Patients harboring ZNF384 rearrangements have a distinctive immunophenotype with...

    Authors: Jinlong Ma, Jiaheng Guan and Baoan Chen
    Citation: Molecular Cytogenetics 2022 15:4
    Content type: Case Report Published on:

  2. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  11. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  15. 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 Published on:

  17. 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 Published on:

  18. 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 Published on:

  19. 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 Published on:

  20. 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 Published on:

  21. 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 Published on:

  22. 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 Published on:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  31. 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 Published on:

  32. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  48. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:

Molecular Cytogenetics

ISSN: 1755-8166