Clinical management of TP53 mosaic variants found on germline genetic testing
Diagnosis of Li-Fraumeni syndrome (LFS) is based on personal and/or family cancer history[1 –4] of core cancers including: breast cancer (BC), soft tissue/bone sarcoma, brain tumors, and adrenal cortical carcinoma[5]. In Classic LFS, patients have cancer at early ages (50% cancer risk by age 30) and high risk for multiple cancers over the lifespan[6]. Recently, a spectrum of LFS has been proposed incorporating broader clinical phenotypes[7]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - April 23, 2024 Category: Genetics & Stem Cells Authors: Abigail Ward, Dana Farengo-Clark, Danielle B. McKenna, Anton Safonov, Madeline Good, Anh Le, Lisa Kessler, Payal D. Shah, Angela R. Bradbury, Susan M. Domchek, Katherine L. Nathanson, Jacquelyn Powers, Kara N. Maxwell Source Type: research
CircMYBL1 Suppressed Acquired Resistance to Osimertinib in Non-Small-Cell Lung Cancer
Lung cancer is one of the top five cancer types diagnosed globally, accounting for 11.4% of all cancer cases in 2020, and non-small cell lung cancer (NSCLC) accounts for approximately 80 –85% of cases [1]. Following the decoding of human cancer genome, new therapeutic strategies have emerged in recent years, including targeted therapy against driver mutations, and immunotherapy, which significantly improve patient outcomes. Epidermal growth factor receptor (EGFR) mutations are the most common actionable driver mutations found in patients with NSCLC, and are present in 10–30% of all NSCLC cases [2–4]. (Source: Cancer ...
Source: Cancer Genetics and Cytogenetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Yaji Li, Nan Wang, Yutang Huang, Shuai He, Meihua Bao, Chunjie Wen, Lanxiang Wu Source Type: research
Editorial Board
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 15, 2024 Category: Genetics & Stem Cells Source Type: research
Assessment for 11q and other chromosomal aberrations in large B-cell/high-grade B cell lymphomas of germinal center phenotype lacking BCL2 expression
The aggressive B-cell lymphomas include multiple entities with differences in morphology, phenotype, molecular pathogenesis, and clinical behavior. Of the large B cell lymphomas within this category, those that show germinal center (GC) phenotype but lack BCL2 expression include (among others) diffuse large B cell lymphoma, not otherwise specified (DLBCL NOS), a proportion of cases of high-grade B cell lymphoma, NOS (HGBCL, NOS), and high-grade B cell lymphomas with 11q aberration (HGBL-11q, WHO 5th edition). (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 15, 2024 Category: Genetics & Stem Cells Authors: Chia-Chen Ho, Kikkeri Naresh, Yajuan Liu, Yu Wu, Ajay K Gopal, Ashley M Eckel Source Type: research
Upregulation of shelterin and CST genes and longer telomeres are associated with unfavorable prognostic characteristics in prostate cancer.
Prostate cancer (PC) is one of the most diagnosed cancers in men and is a severe public health problem worldwide [1,2]. A peculiar feature of PC is the fact of its immense heterogeneity and genetic instability, which makes it challenging to classify into well-defined molecular subtypes [3]. In practical terms, because of this heterogeneity, classical prognostic factors, such as serum PSA and ISUP score, are not accurate enough to distinguish aggressive from indolent tumors early [4 –7]. Added to this, we know that damage caused by excessive treatment and diagnosis is a real problem in PC since while the vast majority of ...
Source: Cancer Genetics and Cytogenetics - March 15, 2024 Category: Genetics & Stem Cells Authors: Gabriel Arantes dos Santos, Nayara I Viana, Ruan Pimenta, Juliana Alves de Camargo, Vanessa R Guimaraes, Poliana Rom ão, Patrícia Candido, Vinicius Genuino dos Santos, Vitória Ghazarian, Sabrina T Reis, Katia Ramos Moreira Leite, Miguel Srougi Source Type: research
Rare NUP98::PRRX1 fusion transcript in a therapy-related acute myeloid leukemia associated with del(7q) following chemotherapy for diffuse large B-cell lymphoma
Therapy-related acute myeloid leukemia (t-AML) is a serious adverse consequence in cancer treatment, including chemotherapy, radiation therapy, or immunosuppressive agents, accounting for 7% of adult AML [1,2]. The two most common leukemia-causing cytotoxic drugs include alkylating agents and topoisomerase-II inhibitors. The majority of alkylating agents-related leukemias have a longer latency of 5 –10 years and typically have a total or partial deletion of chromosome 5 [-5/del(5q)] and chromosome 7 [-7/del(7q)] and/or complex karyotype and are often present with prior myelodysplastic syndrome (MDS) and poor prognosis. (...
Source: Cancer Genetics and Cytogenetics - March 12, 2024 Category: Genetics & Stem Cells Authors: Yanfang Wang, Zhenhao Zhang, Lingli Wang, Hua Wang, Fei Dong Source Type: research
Successful treatment of the first adult case of ZMIZ1::ABL1-positive B cell lymphoblastic leukemia with dasatinib, chimeric antigen receptor T-cell therapy, and allogeneic hematopoietic stem cell transplantation
BCR::ABL1-like B cell lymphoblastic leukemia (B-ALL) is characterized by a gene-expression profile similar to that of BCR::ABL1-positive B-ALL, alterations of lymphoid transcription factor genes, and a poor outcome [1]. Kinase fusions are one of the most critical genetic features for this high-risk disease, and their detection may benefit the patients from targeted tyrosine kinase inhibitor (TKI) therapy [2]. BCR::ABL1-like B-ALL was initially introduced as a provisional entity in the revised 4th edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours [3]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 7, 2024 Category: Genetics & Stem Cells Authors: Xue Chen, Lili Yuan, Xiaoli Ma, Panxiang Cao, Fang Wang, Yang Zhang, Jiaqi Chen, Xian Zhang, Yanli Zhao, Hongxing Liu Source Type: research
Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation
Systemic mastocytosis (SM) is a rare myeloproliferative neoplasm characterized by abnormal mast cell (MCs) clonal proliferation and accumulation in organ systems. It is diagnosed based on the WHO2016 criteria and divided into different forms [1], including aggressive systemic mastocytosis (ASM), accounting for less than 10% of all SM cases and included among the “advanced SM”. ASM has bone marrow (BM) smear with (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 6, 2024 Category: Genetics & Stem Cells Authors: M Poscente, D Tolomeo, A Arshadi, A Agostini, A L'Abbate, A.G. Solimando, O Palumbo, M Carella, P Palumbo, T Gonz ález, JM Hernández-Rivas, L Bassi, R Isidori, M Dell'Aquila, G Trapè, R Latagliata, G Pessina, F Natoni, CT Storlazzi Tags: Short Communication Source Type: research
t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : a case report and literature review
This report presents a case of AML with RUNX1::RUNX1T1, wherein the karyotype revealed t(2;2;21;8)(p21;q37;q22;q22), representing the first instance of a variant t(8;21) involving both chromosomes 2. The combination of routine karyotype analysis and fluorescence in situ hybridization proves to be an effective method for identifying complex translocations of t(8;21). (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - March 6, 2024 Category: Genetics & Stem Cells Authors: Bingbing Han, Yu Jing, Xiaoyu Bi, Yani Lin, Huilan Li, Hongyu Li, Kun Ru, Shaobin Yang Tags: Case Report Source Type: research
Editorial Board
(Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - January 1, 2024 Category: Genetics & Stem Cells Source Type: research
The prognostic, diagnostic, and therapeutic impact of Long noncoding RNAs in gastric cancer
Gastric cancer[1], also known as Stomach cancer is the third most serious gastrointestinal neoplasm worldwide, with a survival rate of about 30 –35% in the last two decades[2,3]. GC is a molecularly and histologically diverse disease that according to the locus of the tumor is categorized into two types: gastroesophageal junction adenocarcinoma (G/GEA) and gastric adenocarcinomas[4,5]. Stomach cancer is typically an asymptomatic disease o r may present with vague and imprecise symptoms in the early stages. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 25, 2023 Category: Genetics & Stem Cells Authors: Atousa Ghorbani, Fatemeh Hosseinie, Saeideh Khorshid Sokhangouy, Muhammad Islampanah, Fatemeh khojasteh-Leylakoohi, Mina Maftooh, Mohammadreza Nassiri, Seyed Mahdi Hassanian, Majid Ghayour-Mobarhan, Gordon A Ferns, Majid Khazaei, Elham Nazari, Amir Avan Tags: Review Article Source Type: research
Simultaneous occurrence of multiple myeloma and acute myeloid leukemia: case report and literature review
Multiple myeloma (MM) and acute myeloid leukemia (AML) are malignant clonal diseases of cells in different lineages. It remains very rare to have both diseases at first diagnosis. Only 24 cases of this situation were reported from 1971 to 2021, and poor prognosis in most cases. However, here we describe a case of de novo MM and AML occurring simultaneously in a 65-year-old woman. We have successfully used individualized treatment regimens to allow the patient to survive 1.5 years to date, which has exceeded 80% of statistical cases. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 22, 2023 Category: Genetics & Stem Cells Authors: Feng Li, Feifei Yang, Xiuqun Zhang, Shibin Cao, Yanli Xu Source Type: research
Combination of Minimal Residual Disease on Day 15 and Copy Number Alterations Results in BCR-ABL1-negative pediatric B-ALL: A powerful tool for prediction of induction failure
Acute Lymphoblastic Leukemia (ALL) is the most frequent malignancy in pediatric aged 0 to 14 years all over the world.[1] In pediatrics with B-cell ALL (B-ALL), advances in risk stratification and innovative therapeutic approaches have drastically improved treatment outcomes with the five-year survival rate of above 90% in high-income countries.[2,3] About 75% of pediatric ALL cases have a recurring chromosomal alteration that can be detected by karyotyping, Fluorescence In Situ Hybridization (FISH), or molecular methods. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 21, 2023 Category: Genetics & Stem Cells Authors: Hamed Baghdadi, Masoud Soleimani, Mahdi Zavvar, Gholamreza Bahoush, Behzad Poopak Source Type: research
Development of a molecular barcode detection system for pancreaticobiliary malignancies and comparison with next-generation sequencing
Pancreatic cancer (PC) is the fourth leading cause of cancer-related death in Western countries and expected to become the second-leading cause of cancer-related deaths in the United States by 2030.[1,2] The 5-year survival rate for all combined stages (9%) of PC is the lowest of all cancer types.[2] The incidence of biliary tract cancer (BTC), including intrahepatic and extrahepatic cholangiocarcinoma (CCA) and gallbladder cancer (GBC), remains highest in East Asia and parts of South America and is rapidly increasing worldwide. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 13, 2023 Category: Genetics & Stem Cells Authors: Hiroshi Ohyama, Yosuke Hirotsu, Kenji Amemiya, Rintaro Mikata, Hiroyuki Amano, Sumio Hirose, Toshio Oyama, Yuji Iimuro, Yuichiro Kojima, Hitoshi Mochizuki, Naoya Kato, Masao Omata Source Type: research
Methylation Signatures as Biomarkers for Non-Invasive Early Detection of Breast Cancer: A Systematic Review of the Literature
Breast cancer is the most common type of cancer in women across the globe with an estimated 287,850 newly diagnosed cases in the United States in 2022 [1]. Breast cancer is a heterogeneous group of pathologic entities with different biologic behaviors and includes various subtypes such as hormone-receptor-positive, triple negative, and Human Epidermal Receptor (HER) 2/neu-positive breast cancers. All of these subtypes have distinct progression mechanisms, which require different management approaches [2]. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - December 11, 2023 Category: Genetics & Stem Cells Authors: Tessa Gonzalez, Qian Nie, Lubna N. Chaudhary, Donald Basel, Honey V. Reddi Source Type: research
