Comprehensive FISH testing using FFPE tissue microarray of primary lymph node tissue identifies secondary cytogenetic abnormalities in Mantle Cell Lymphoma
Mantle Cell Lymphoma (MCL) is a mature B-cell non-Hodgkin lymphoma (B-NHL). It is characterised by the proliferation of small to medium lymphoid cells with irregular nuclear contours, clumped chromatin, and sometimes, visible nucleoli. There is a higher incidence among males than females with a median age of 68 years [1]. MCL follows a moderately aggressive and variable course. Median overall survival in modern trials incorporating intensive therapy is 4 to 5 years, without definitive evidence of cure; however, it is a heterogeneous disease with some patients having a more indolent course [2]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - April 17, 2023 Category: Genetics & Stem Cells Authors: Fiona Webb, Adrienne Morey, Collete Mahler-Hinder, Ekavi Georgousopoulou, RayMun Koo, Nalini Pati, Dipti Talaulikar Source Type: research
Malignant Peripheral Nerve Sheath Tumor on a Patient with a Maternally Inherited Novel NF1 gene Pathogenic Germline Variant: Case Report
We present the case of a teenager with a left jaw MPNST and a previously unreported germline pathogenic variant on NF1. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - April 15, 2023 Category: Genetics & Stem Cells Authors: Rodrigo Moreno-Salgado, Yanen Zaneli Rios-Lozano, Ana Carolina Tamayo-Palacio, Ana Idalia Yepez Castillo, Mar ía Fernanda Hidalgo Martínez Tags: Case Report Source Type: research
Metabolic –related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma
Intrahepatic cholangiocarcinoma (IHCC) originates from intrahepatic epithelium and extrahepatic bile ducts, characterized by cholangiocyte differentiation [1]. IHCC is the second most common primary liver malignancy after hepatocellular carcinoma, accounting for 5 –20% of all primary hepatic malignancies, and incidence of IHCC has increased approximately 14% per year globally [2,3]. Although surgical resection with negative margin is the curative treatment for IHCC if diagnosed at early stage, the 5-year survival rate is about 25–43% due to the high rate of recurrence (> 60%) after surgery [4 –6]. (Source: Cancer Gen...
Source: Cancer Genetics and Cytogenetics - April 12, 2023 Category: Genetics & Stem Cells Authors: Zhe Jin, Ya-Hui Liu Source Type: research
Metabolic-related gene signatures for survival prediction and immune cell subtypes associated with prognosis in intrahepatic cholangiocarcinoma
Intrahepatic cholangiocarcinoma (IHCC) originates from intrahepatic epithelium and extrahepatic bile ducts, characterized by cholangiocyte differentiation [1]. IHCC is the second most common primary liver malignancy after hepatocellular carcinoma, accounting for 5-20% of all primary hepatic malignancies, and incidence of IHCC has increased approximately 14% per year globally [2,3]. Although surgical resection with negative margin is the curative treatment for IHCC if diagnosed at early stage, the 5-year survival rate is about 25-43% due to the high rate of recurrence (> 60%) after surgery [4 –6]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - April 12, 2023 Category: Genetics & Stem Cells Authors: Zhe Jin, Ya-Hui Liu Source Type: research
RNA profile of immuno ‐magnetically enriched lung cancer associated exosomes isolated from clinical samples
Lung cancer is the predominant cause of cancer mortalities worldwide, causing deaths in more than 84% of diagnosed cases. In India, more than 1.1 million new cases of cancer were reported in 2018, and 0.78 million people lost their lives to the disease [1 –3]. Surgical biopsies, the current gold standard for diagnosing lung cancer, is invasive, risky, and require specialized surgeons to perform the procedure. However, it is not considered ideal for clinical management of advanced lung cancer cases due to the limited accessibility of relevant tumou r tissue at the advanced stages of the disease [4]. (Source: Cancer Genet...
Source: Cancer Genetics and Cytogenetics - March 29, 2023 Category: Genetics & Stem Cells Authors: Shefali Singh, Deevanshu Goyal, Karthikeyan Raman, Sachin Kumar, Prabhat Singh Malik, Ravikrishnan Elangovan Source Type: research
RNA profile of immuno-magnetically enriched lung cancer associated exosomes isolated from clinical samples
Lung cancer is the predominant cause of cancer mortalities worldwide, causing deaths in more than 84% of diagnosed cases. In India, more than 1.1 million new cases of cancer were reported in 2018, and 0.78 million people lost their lives to the disease [1 –3]. Surgical biopsies, the current gold standard for diagnosing lung cancer, is invasive, risky, and require specialized surgeons to perform the procedure. However, it is not considered ideal for clinical management of advanced lung cancer cases due to the limited accessibility of relevant tumou r tissue at the advanced stages of the disease [4]. (Source: Cancer Genet...
Source: Cancer Genetics and Cytogenetics - March 29, 2023 Category: Genetics & Stem Cells Authors: Shefali Singh, Deevanshu Goyal, Karthikeyan Raman, Sachin Kumar, Prabhat Singh Malik, Ravikrishnan Elangovan Source Type: research
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia
Calreticulin (CALR) is a calcium-binding protein chaperone that may be found throughout the extracellular matrix and membranes of cells. It regulates calcium homeostasis and ensures the appropriate folding of newly generated glycoproteins within the endoplasmic reticulum. A somatic mutation in JAK2, CALR, or MPL is responsible for the great majority of essential thrombocythemia (ET) cases. ET has a diagnostic and prognostic value because of the sort of mutation that causes it. ET patients with the JAK2 V617F mutation had more noticeable leukocytosis, higher hemoglobin levels, and lower platelet levels, but also more thromb...
Source: Cancer Genetics and Cytogenetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Rafiye Ciftciler, Ozgur Balasar Source Type: research
A novel germline frameshift mutation in the MLH1 gene in a patient with Lynch syndrome
In this study, we report a novel germline frameshift mutation in the MLH1 gene [NM_000249: exon1: c.99dup p.(Glu34ArgfsTer4)] in a 34-year-old male patient with LS. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 18, 2023 Category: Genetics & Stem Cells Authors: Jianbiao Xu, Jianlin Song, Wenchuan Zhu, Liangyu Zuo, Jinzhi Wu, Li Zhang, Tongmin Wang, Jianhui Guo Source Type: research
Detection of an atypical BCR::ABL1 fusion in a patient with secondary B-cell acute lymphoblastic leukemia/lymphoma following multiple myeloma treatment
We present a case of a secondary Ph+ B-ALL following multiple myeloma that highlights a BCR::ABL1 fusion by a gene fusion assay to reveal a cryptic Ph chromosome, which may otherwise be missed by conventional cytogenetics and typical interphase fluorescence in situ hybridization. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 18, 2023 Category: Genetics & Stem Cells Authors: Karin Miller, Jonathan Webster, Philip Imus, Candice Ament, Melanie Hardy, Ying S. Zou Source Type: research
Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients
Hepatocellular carcinoma (HCC) is a major public health challenge worldwide. In Chinese populations, HCC is mainly caused by viral hepatitis or cirrhosis and about half of the global HCC deaths occur in China [1,2]. Metastasis is the most important cause of HCC mortality. Standard systematic treatments for metastatic or advanced HCC include, tyrosine kinase inhibitors e.g., sorafenib, sunitinib, and lenvatinib, immunotherapies e.g., pembrolizumab and nivolumab, and cytotoxic chemotherapy, e.g., 5-Fluorouracil and doxorubicin [3]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 18, 2023 Category: Genetics & Stem Cells Authors: Xiaojing Wang, Wangyuan Zeng, Lu Yang, Tanjie Chang, Jiangzheng Zeng Source Type: research
Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement
Chronic myeloid leukaemia (CML) occurs due to t(9;22)(q34;q11.2)/BCR/ABL fusion gene. Some group of patients with myeloproliferative neoplasm clinically presented as CML, and shows no evidence of BCR/ABL fusion [(t9;22)] gene are diagnosed as atypical chronic myeloid leukaemia [aCML][1]. Recently, the WHO classification (5th edition) of haematolymphoid tumours, classified neoplasm with FGFR1 translocation under the category of "Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions ” [2]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 17, 2023 Category: Genetics & Stem Cells Authors: Somprakash Dhangar, Chandrakala Shanmukhaiah, Leena Sawant, Jagdeeshwar Ghatanatti, Aditi Shah, Leo Prince Mathan S, Babu Rao Vundinti Source Type: research
Editorial Board
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 16, 2023 Category: Genetics & Stem Cells Source Type: research
Expression and potential immune involvement of cuproptosis in kidney renal clear cell carcinoma
Recently, a study of cuproptosis [1] has raised broad attention in the field of cancer cell death. Cuproptosis is a newly identified programmed cell death pathway mediated by intracellular free copper, that is distinguished from other programmed cell death pathways such as apoptosis, autophagy, necrosis, ferroptosis, pyroptosis, oncosis, etc. Although copper is an essential co-factor for critical enzymes in cells [2], the concentration of intracellular copper is maintained at a very low level. Studies have revealed that the increase in the copper in cells leads to the lethal fate of cells [3,4], however, the exact mechanis...
Source: Cancer Genetics and Cytogenetics - March 14, 2023 Category: Genetics & Stem Cells Authors: Hengrui Liu Source Type: research
Mitotic Recombinatory Evolution in Acute Leukemia
Clonal evolution in cancer primarily involves selection for genomic alterations associated with oncogenic gene fusions, loss of tumor suppressor genes, or mutations of genes associated with oncogenic pathways. These alterations can also act as selection drivers for mitotic recombination that results in segmental replacement of the normal homologous region in the other chromosome homologue during development of the neoplasm. This can result in double translocation derivatives, biallelic mutations, and/or homozygotic tumor suppressor gene loss associated with selective advantage. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 10, 2023 Category: Genetics & Stem Cells Authors: Peter Papenhausen, Carla A. Kelly, Zhenxi Zhang, Andrea Penton Source Type: research
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy
Follicular lymphoma (FL) is the most frequent form of indolent B cell lymphoma, accounting for about 20% of all lymphoproliferative disorders in Western countries [1]. It is defined as a neoplasm composed of germinal center B cells at least partially arranged in a follicular growth pattern [1]. Although it follows, at least initially, a chronic indolent clinical course, FL remains incurable with standard therapies, being characterized by response to initial treatment, frequent relapses and shorter duration responses to salvage therapy. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 6, 2023 Category: Genetics & Stem Cells Authors: Francesca Magnoli, Deborah Marchiori, Sofia Facchi, Vittoria Martin, Leonardo Campiotti, Michele Merli, Fausto Sessa, Maria Grazia Tibiletti, Silvia Uccella Source Type: research
