Telomere length measurement in tumor and non‐tumor cells as a valuable prognostic for tumor progression
Publication date: Available online 26 July 2019Source: Cancer GeneticsAuthor(s): Fatma Mehrez, Karim Bougatef, Elisa Delle Monache, Ivan Arisi, Luca Proietti-De-Santis, Giorgio Prantera, Lilia Zouiten, Manuela Caputo, Amel Ben Ammar Elgaaied, Silvia BongiorniAbstractTelomere shortening has been supposed to be implicated in both aging and various human diseases especially carcinogenesis process. This phenomenon can lead to a chromosomal instability, contributing to a cell immortalization and tumor induction. In our study, we analyzed the role of telomere shortening in cancer progression, in Tunisian patients with digestive ...
Source: Cancer Genetics - July 27, 2019 Category: Cancer & Oncology Source Type: research
Clinical implications of clonal chromosomal abnormalities in Philadelphia negative cells in CML patients after treated with tyrosine kinase inhibitors
Publication date: Available online 24 July 2019Source: Cancer GeneticsAuthor(s): Hongyu Ni, Xinlai Sun, Yin Xu, Derek Lyle, Paris Petersen, Xianfeng Zhao, Hong Drum, Bei You, Dongfang Liu, Chen Liu, Jie-Gen JiangABSTRACTEmergence of clonal chromosomal abnormalities in Philadelphia chromosome-negative (CCA/Ph-) cells in chronic myeloid leukemia (CML) patients during the treatment with tyrosine kinase inhibitors (TKIs) is an interesting phenomenon. Although previous studies revealed some potential impact of CCA/Ph- on CML patients’ outcome, clinical significance of CCA/Ph- in CML patients remains to be further elucidated. ...
Source: Cancer Genetics - July 26, 2019 Category: Cancer & Oncology Source Type: research
RUNX1 Deletion/Amplification in Therapy-Related Acute Myeloid Leukemia: A Case Report and Review of the Literature
We describe here a case of AML with apparent amplification of RUNX1 by cytogenetics and FISH. A 39-year-old female in remission from stage IIIa breast cancer was diagnosed with therapy-related AML (t-AML). The patient's bone marrow was hypocellular for her age (30-40%) with 25% blasts. Cytogenetic analyses revealed a complex karyotype, characterized by rearrangements in chromosomes 1, 5, 17, 20, an additional unidentified marker chromosome, and apparent amplification of chromosome 21. Fluorescence in situ hybridization detected deletions of CKS1B, EGR1, TP53, and apparent amplification of RUNX1 (6-8 signals). Array compara...
Source: Cancer Genetics - July 26, 2019 Category: Cancer & Oncology Source Type: research
Detection of a novel CBFB-MYH11 fusion transcript in acute myeloid leukemia M1 with inv(16)(p13q22)
Publication date: Available online 24 July 2019Source: Cancer GeneticsAuthor(s): Keiji Kurata, Katsuya Yamamoto, Yoko Okazaki, Yoriko Noguchi, Keiji Matsui, Hisayuki Matsumoto, Yumiko Inui, Kimikazu Yakushijin, Mitsuhiro Ito, Yuji Nakamachi, Hiroshi Matsuoka, Jun Saegusa, Hironobu MinamiAbstractAcute myeloid leukemia (AML) with an inv(16)(p13q22) or t(16;16)(p13;q22) chromosomal abnormality represents one of the most common subtypes of de novo cases. These chromosomal rearrangements result in multiple CBFB-MYH11 fusion transcripts, with type-A being the most frequent. We here describe a unique case of de novo AML-M1, with ...
Source: Cancer Genetics - July 26, 2019 Category: Cancer & Oncology Source Type: research
Variants in COL6A3 gene influence susceptibility to esophageal cancer in the Chinese population
In conclusions, our study found that COL6A3 variants were associated with risk of EC in the Chinese population. (Source: Cancer Genetics)
Source: Cancer Genetics - July 14, 2019 Category: Cancer & Oncology Source Type: research
Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation
We report a patient who had a clinical and morphological presentation consistent with CMML. The genetic work-up showed an ETV6-ABL1 fusion consequent to a 9;12 translocation, and a missense mutation in SMC1A (c.1757G>A, p.Arg586Gln). The SMC1A mutations are recurrent, albeit rare, in myeloid malignancies, without an established clinical significance in CMML. ETV6-ABL1 fusion is a rare but recurrent genetic aberration found in various hematologic malignancies involving both the lymphoid and myeloid lineage, but to the best of our knowledge, CMML is an exceptionally rare presentation of ETV6-ABL1 rearranged neoplasm. ETV6-AB...
Source: Cancer Genetics - July 14, 2019 Category: Cancer & Oncology Source Type: research
ANKRD26-RET - A novel gene fusion involving RET in papillary thyroid carcinoma
ConclusionsANKRD26-RET is a novel rearrangement of the RET gene, associated with RET expression in thyroid tissue. The result is a fusion of the RET tyrosine kinase to prominent protein-protein interaction motifs. Further studies are required to investigate the influence of different RET rearrangements on metastasis and disease-free survival in PTC. (Source: Cancer Genetics)
Source: Cancer Genetics - July 5, 2019 Category: Cancer & Oncology Source Type: research
Homogeneously Staining Region (hsr) on Chromosome 11 Is Highly Specific for KMT2A Amplification in Acute Myeloid Leukemia (AML) and Myelodysplastic syndrome (MDS)
In this study, we correlated hsr(11)(q23) with KMT2A in a large cohort of AML/MDS (n=54) patients. We identified 37 patients with hsr(11)(q23) in the setting of AML (n=27) and MDS (n=10). All patients showed a complex karyotype including 12 cases with monosomy 17. KMT2A FISH analysis was available for 35 patients which showed KMT2A amplification in all patients. Among control cases with hsr involving chromosomes other than 11q [non-11q hsr, n=17], FISH analysis for KMT2A was available in 10 cases and none of these cases showed KMT2A amplification (p=0.0001, Fisher's exact test, two-tailed). Mutational analysis was performe...
Source: Cancer Genetics - July 5, 2019 Category: Cancer & Oncology Source Type: research
Cytogenetic profile of a representative cohort of young adults with de novo Acute Myéloblastic Leukaemia in Morocco
Publication date: Available online 15 June 2019Source: Cancer GeneticsAuthor(s): Nisrine Khoubila, Mounia Bendari, Nezha Hda, Mouna Lamchahab, Meryem Qachouh, Mohamed Rachid, Asmaa QuessarSummaryBackgroundWe analyzed the cytogenetic characteristics of a representative population of young adults with de novo acute myeloblastic leukemia (AML) treated in a single center institution.MethodsPatients with de novo AML included were aged between 20 and 60 years. Cytogenetic analysis was done at diagnosis. Twenty cells were analyzed, although examination of lower numbers of metaphases was also acceptable if an abnormal clone was de...
Source: Cancer Genetics - June 15, 2019 Category: Cancer & Oncology Source Type: research
Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification
ConclusionsAltogether, BRCA1, p.(Val1833Met) variant is a Greek founder and is very likely to predispose for BrCa/OvCa. Therefore, such carriers should be counselled accordingly, with clinical recommendations supporting surveillance and risk-reduction strategies, while providing the option for targeted therapeutic interventions. (Source: Cancer Genetics)
Source: Cancer Genetics - June 13, 2019 Category: Cancer & Oncology Source Type: research
Characterization of a rarely reported STAT5B/RARA gene fusion in a young adult with newly diagnosed acute promyelocytic leukemia with resistance to ATRA therapy
Publication date: Available online 12 June 2019Source: Cancer GeneticsAuthor(s): Jess F. Peterson, Rui R. He, Hassan Nayer, Raymund S. Cuevo, James B. Smadbeck, George Vasmatzis, Patricia T. Greipp, Rhett P. Ketterling, Nicole L. Hoppman, Linda B. BaughnAbstractThe detection of PML/RARA or variant RARA rearrangements is critical for the diagnosis and treatment of patients with newly diagnosed acute promyelocytic leukemia (APL). While most cases of APL harboring the PML/RARA fusion respond to all-trans retinoic acid (ATRA), some variant RARA rearrangements are ATRA insensitive. Herein, we report a 27-year-old male with newl...
Source: Cancer Genetics - June 13, 2019 Category: Cancer & Oncology Source Type: research
Inherited cancer syndromes in 220 Italian ovarian cancer patients
ConclusionsSomatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention. (Source: Cancer Genetics)
Source: Cancer Genetics - June 13, 2019 Category: Cancer & Oncology Source Type: research
Concurrent chromothripsis events in a case of TP53 depleted Acute Myeloid Leukemia with myelodysplasia-related changes
Publication date: Available online 12 June 2019Source: Cancer GeneticsAuthor(s): D. Tolomeo, A. L'Abbate, A. Lonoce, P. D'Addabbo, M.F. Miccoli, C. Lo Cunsolo, P. Iuzzolino, O. Palumbo, M. Carella, V. Racanelli, T. Mazza, E. Ottaviani, G. Martinelli, G. Macchia, C.T. StorlazziAbstractAcute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous hematological disorder defined by morphological, genetic, and clinical features. Patients with AML-MRC often show cytogenetic changes, which are associated with poor prognosis. Straightforward criteria for AML-MRC diagnosis and a more rigorous characterizat...
Source: Cancer Genetics - June 13, 2019 Category: Cancer & Oncology Source Type: research
A Unique Case of Complex Variant Translocation of t(6;9;22)(p22;q34;q11.2), der(19) in a Newly Diagnosed Patient with Chronic Myeloid Leukemia
In conclusion, complex translocations in unusual locations of the BCR / ABL gene appear to indicate a poor prognosis. (Source: Cancer Genetics)
Source: Cancer Genetics - June 13, 2019 Category: Cancer & Oncology Source Type: research
Single-cell cloning of human T-cell lines reveals clonal variation in cell death responses to chemotherapeutics
In this study, we characterize the variation in cell death of fifty clonal cell lines generated from human Jurkat and MOLT-4 T-cells edited by CRISPR-Cas9. We demonstrate a wide distribution of sensitivity to chemotherapeutics between non-edited clonal human leukemia T-cell lines, and also following CRISPR-Cas9 editing at the NLRP1 locus, or following transfection with non-targeting sgRNA controls. The cell death sensitivity profile of clonal cell lines was consistent across experiments and failed to revert to the non-clonal parental phenotype. Whole genome sequencing of two clonal cell lines edited by CRISPR-Cas9 revealed...
Source: Cancer Genetics - June 12, 2019 Category: Cancer & Oncology Source Type: research
