Uveal Melanoma by Vasilios P. Papastefanou, Victoria M. L. Cohen

“…Current advances in genetics and cytogenetics have provided a significant insight in tumours with high metastatic potential and the molecular mechanisms that underlie their development. …”
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Bone Marrow Burkitt Lymphoma in a Child by Matija Knežić, Irena Seili Bekafigo, Jelena Roganović, Ita Hadžisejdić, Nives Jonjić

“…Bone marrow aspiration and biopsy, flow cytometry, and immunohistochemistry along with cytogenetics are compulsory in order to achieve the adequate diagnosis.…”
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Gastric Cancer Cell Lines Have Different MYC-Regulated Expression Patterns but Share a Common Core of Altered Genes by Jersey Heitor da S. Maués, Helem Ferreira Ribeiro, Giovanny R. Pinto, Luana de Oliveira Lopes, Letícia M. Lamarão, Carla Mariana F. Pessoa, Caroline de Fátima Aquino Moreira-Nunes, Raimundo Miranda de Carvalho, Paulo P. Assumpção, Juan A. Rey, Rommel M. Rodríguez Burbano

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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…However, the clinical use of molecular cytogenetics and high-throughput DNA sequencing technologies, which are able to test an entire genome for genetic variants that are associated with the disease, is preparing a further revolution in the near future. …”
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<i>GLI1</i>-Rearranged Enteric Tumors: Updates on Clinicopathologic and Molecular Genetics Features by Ahmed I. Younes, Haider A. Mejbel

“…Modern technological developments in cytogenetics and next-generation sequencing have enabled the analysis of small clinical samples, expanded our understanding of tumor biology, and improved the diagnostic, prognostic, and predictive precision by identifying targeted genetic alterations, confirming the presence of fusion transcripts, and/or revealing the overexpression of specific genes and their targets. …”
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Treatment of Coexisting Chronic Neutrophilic Leukemia and Light Chain Multiple Myeloma with Hydroxyurea, Bortezomib, and Dexamethasone by Evelyn Taiwo, Huiying Wang, Robert Lewis

“…The monoclonal gammopathy was determined as lambda light chain with a kappa/lambda ratio of 0.06. Cytogenetics revealed normal karyotype, JAK2 kinase was negative, and rearrangement of BCR-ABL1, PDGFRA, PDGFRB, and FGFR1 was negative. …”
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Anticonvulsant valproic acid and other short-chain fatty acids as novel anticancer therapeutics: Possibilities and challenges by Lipska Katarzyna, Gumieniczek Anna, Filip Agata A.

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Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory? by Giorgia Romano, Giovanni Rollo, Lorna Spagnol, Mafalda Mucciolo, Ottavio Adorisio, Massimiliano Silveri

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An Unusual Presentation of Desmoplastic Small Round Cell Tumour of the Abdomen: Morphological, Immunohistochemical, Ultrastructural, and Molecular Studies by Preethika Angunawela, Alhossain A. Khalafallah, Karen Wolfswinkel, David Seaton, Terry Brain

“…The cells were positive with vimentin and desmin (with occasional dot positivity) and negative for WT1 and CD 99 with immunohistochemistry. Cytogenetics showed a translocation disrupting the EWSR 1 gene on 22 q 12 consistent with DSRCT. …”
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A Novel del(20q) in Aggressive Nodal Marginal Zone Lymphoma by Jason B. Kern, Deiter J. Duff, Jamie L. Odem, Magda Esebua, Lisa R. Smith, Donald Doll, Michael Wang

“…Biopsy of the neck mass and cervical lymph nodes revealed MZL. Cytogenetic evaluation of both lymph node and bone marrow tissue revealed del(20q). …”
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Mammary Analogue Secretory Carcinoma of the Palate: Case Report and Review of the Literature by Christian Boliere, James Murphy, Mohammed Qaisi, Frances Manosca, Henry Fung

“…The gold standard for MASC diagnosis is cytogenetics, with the majority having a translocation t(12;15)(p133;q25). …”
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Karyotype uniformity in populations of the endemic Hemiancistrus fuliginosus (Loricariidae: Hypostomini) collected in the upper and middle Uruguai River by Jocicléia Thums Konerat, Vanessa Bueno, Ana Luiza de Brito Portela-Castro, Isabel Cristina Martins-Santos, Vladimir Pavan Margarido

“…Abstract Disagreements in molecular and morphological analyzes have generated conflicts about the correct allocation of Hemiancistrus fuliginosus in Hypostominae. In this study, cytogenetics analyzes in four populations of H. fuliginosus from tributaries of the Uruguai Riverrevealed 2n = 56 chromosomes (30m + 18sm + 6st + 2a) for all populations. …”
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A New Multiple-Distribution GAN Model to Solve Complexity in End-to-End Chromosome Karyotyping by Yirui Wu, Xiao Tan, Tong Lu

“…However, performing karyotyping task generally requires domain expertise in cytogenetics, long-period experience for high accuracy, and considerable manual efforts. …”
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Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

“…Methods Patients were investigated by performing a cytogenetic analysis of GTG‐banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES. …”
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lncRNA HOTTIP Recruits EZH2 to Inhibit PTEN Expression and Participates in IM Resistance in Chronic Myeloid Leukemia by Jing Liu, Lin Yang, Xiaojun Liu, Lu Liu, Menghan Liu, Xuefeng Feng, Jianmin Luo

“…These patients were diagnosed with CML by bone marrow morphology, immunology, molecular biology, and cytogenetics, of which 36 were sensitive to IM and 35 were resistant to IM. …”
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Acute Lymphoblastic Leukemia following Lenalidomide Maintenance for Multiple Myeloma: Two Cases with Unexpected Presentation and Good Prognostic Features by Abdullah M. Khan, Jameel Muzaffar, Hermant Murthy, John R. Wingard, Jan S. Moreb

“…Both patients had B-cell ALL, without known poor risk cytogenetics, and were managed with standard induction therapies resulting in complete remission. …”
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Promyelocytic Leukemia with No Retinoic Acid Receptor Alpha Abnormality but with RUNX1T1 Insertion to Chromosome 7q: A Classification and Management Dilemma by Kathleen Overholt, Terri L. Guinipero, Nyla A. Heerema, Michael R. Loken, Samir B. Kahwash

“…The only cytogenetic abnormality found was a small insertion in 7q, and three copies of RUNX1T1. …”
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Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q by Sukesh Manthri, Naresh K. Vasireddy, Sindhura Bandaru, Swati Pathak

“…Bone marrow biopsy after completion of 6 cycles showed complete cytogenetic remission with significant improvement in elliptocytosis. …”
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Long-Term Cultured Human Term Placenta-Derived Mesenchymal Stem Cells of Maternal Origin Displays Plasticity by Vikram Sabapathy, Saranya Ravi, Vivi Srivastava, Alok Srivastava, Sanjay Kumar

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Intermediate between Idiopathic Hypereosinophilia and Chronic Eosinophilic Leukemia: A Report of Two Hypereosinophilic Cases with Possible Novel Molecular Mutations by Jui Choudhuri, Mohammad Eskandari, Yang Shi, Yanhua Wang

“…Cases of hypereosinophilia without clear reactive etiologies, no evidence of end-organ damage, normal cytogenetics, and no molecular mutations are termed as “Idiopathic Hypereosinophilia (IHE).” …”
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