89. TCF3::ZNF384 in a Peruvian girl with mixed-phenotype acute leukemia and poor treatment outcome
ZNF384 rearrangements are common in B cell/myeloid mixed phenotype acute leukemias (B/M MPAL) with poor steroid response and a high frequency of relapse. A distinct subtype of MPAL is defined according to WHO. In order to contribute to the clinical genetic landscape of pediatric MPAL. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Richard S. Rodriguez, Jeny Bazalar-Montoya, Ricardo Abanto-Hinostroza, Mirian Conde-Fanola, Mabel Aucca-Vitorino, Victoria Godoy-Vila, Gioconda Manassero-Morales Source Type: research
90. Genetic biomarkers in pediatric B-cell acute lymphoblastic leukemia detected by NGS in a Peruvian population
Next Generation Sequencing (NGS) are useful tools for precision medicine in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Early detection, accurate diagnosis, stratification of risk groups and timely treatment lead to improved outcomes. In developing countries, the survival rate is less than 60% and relapses exceed 30%. Determine the frequency, B-ALL subtype and genetic risk group from biomarkers detected by NGS. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Richard S. Rodriguez, Jeny Bazalar-Montoya, Guillermo Romero-Guerra, Julissa Fuentes-Vera, Monica Correa-Guerrero, Francisco Sanchez-Pinto, Mabel Aucca-Vitorino, Ricardo Abanto-Hinostroza, Sergio Murillo-Vizcarra, Victoria Godoy-Vila, Gioconda Manassero-M Source Type: research
91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia
Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by characteristic 9;22 translocation leading to the BCR::ABL1 fusion gene on the so-called Philadelphia chromosome. Identification of the common translocation is by conventional cytogenetic methods; detection of rarer and atypical variants of the BCR::ABL1 fusion gene are challenging and often require multiple techniques. Here two cases with CML are presented, each with atypical BCR::ABL1 rearrangements identified with high sensitivity and specificity by optical genome mapping (OGM). (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Trilochan Sahoo, Alex Hastie, Allison Ortega, Anusha Mylavarapu, Beth Matthews, Jen Hauenstein, Alka Chaubey Source Type: research
92. The ClinGen Somatic CDWG supports somatic variant curation and interpretation through structured guidance and procedures
Interpretation of the clinical significance of somatic variants in cancer remains a major challenge in cancer diagnosis, prognosis, and treatment decisions. The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group (CDWG) supports data curation and the development of guidelines to standardize clinical significance interpretation of somatic alterations in cancer. The Somatic CDWG actively recruits new members to subspecialty-focused Taskforces (Pediatric, Hematologic, and Solid Tumor) and provides organization and curation training. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Jason Saliba, Arpad Danos, Ian King, Shamini Selvarajah, Xinjie Xu, Rashmi Kanagal-Shamanna, Laveniya Satgunaseelan, David M. Meredith, Kilannin Krysiak, Mark G. Evans, Charles G. Mullighan, Yassmine Akkari, Gordana Raca, Angshumoy Roy, Ramaswamy Govindan Source Type: research
93. Evidence of BCR::ABL1 fusion `seed' many years before CML disease presentation
Key mutations that drive the initiation of cancer can arrive decades before the clinical manifestation of the disease. In CML, BCR::ABL1 fusion can occur many years before diagnosis.A patient was referred for suspicion of CML. Both karyotype and FISH analysis identified the t(9;22)(q22;q12) in 98.5% of cells analyzed. The patient responded to imatinib and achieved a complete cytogenetic response.Clinical history revealed that this patient had presented with cytopenia six years before and was evaluated for MDS. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Ramakrishnan Sasi, Michelle Spruill, Peter L. Perrotta Source Type: research
94. Initial efforts of the ClinGen Solid Tumor Taskforce in promoting variant curation in solid tumors into CIViC
The Clinical Genome Resource (ClinGen) Somatic Clinical Domain Working Group (CDWG) (https://www.clinicalgenome.org/working-groups/clinical-domain/somatic-cancer-cdwg/) is an international multi-institutional effort to develop and standardize data curation guidelines for somatic genomic alterations in cancer. The recognition of a demanded but missing focus specific for solid tumors, in light of expanded testing options and the increased complexity of tumor classification systems that incorporate molecular information, led to the formation of the Somatic Cancer Solid Tumor Taskforce (STT) under the CDWG. (Source: Cancer Gen...
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Laveniya Satgunaseelan, Madina Sukhanova, Gokce Toruner, Arpad Danos, Destiney Allen, Lauren Akesson, Laura Corson, Haleh Farzanmehr, Ariana Gonzalez, Cameron Grisdale, Haluk Kavus, Yuwen Li, Tracy Lively, Marilena Melas, Jason Merker, Mamta Rao, Shamini Source Type: research
95. Genomic profiling of a t(14;19) small B-cell lymphoma using whole exome sequencing
Small B-cell lymphomas are a diverse group of Non-Hodgkin lymphomas representing a clonal expansion of neoplastic B-cells. As molecular techniques evolve in clinical laboratories, this diverse group of tumors divides into more specific entities. Examples include MYD88 in lymphoplasmacytic lymphoma (LPL), t(14;18) in follicular lymphoma, and t(11;14) in mantle cell lymphoma. Less defined genetic changes include unusual translocations such as t(14;19), which has been reported in different subtypes of small B-cell lymphomas. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Shivaprasad Sathyanarayana, Joel Lefferts, Wahab Khan, Prabhjot Kaur, Jeremiah Karrs Source Type: research
96. A unique case presentation of pediatric spinal ependymoma with chromothripsis of chromosome 6: case report
We present the case of a 16-year-old female with a history of neurofibromatosis type 2 with multiple schwannomas, meningioma, and spinal ependymoma. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Keela Scott, Melissa Gener, Elena Repnikova Source Type: research
97. A rare case of low-hypodiploid acute lymphoblastic leukemia
We report a 21-year-old male with B-cell ALL. Conventional cytogenetic and fluorescence in situ hybridization (FISH) analyses showed four related abnormal clones. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Morteza Seifi, Randee Blumer, Amber Walters, Erin Baldwin, Eric Johnson, Xiangqiang Shao, Vanessa Horner Source Type: research
98. A bioinformatics analysis of differentially expressed genes in non-small cell lung cancer subtypes
Lung cancer is the most commonly diagnosed cancer type and leading cause of cancer death worldwide. Lung adenocarcinoma (LUAD) and squamous cell carcinoma (LUSC) are major subtypes of Non-Small Cell Lung Cancer (NSCLC), accounting for 82% of all lung cancer. Understanding the differences in genes causing the proliferation of LUAD and LUSC is key to advance diagnosis and targeted treatment development. The aim of this study is to identify candidate genes and potential tumorigenesis mechanisms distinguishing LAUD and LUSC. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Patrick Shi, Wenqiang Chen Source Type: research
99. Donor-derived follicular lymphoma after kidney transplantation - a case report
Cancer incidence is increased in solid organ transplant recipients compared to the general population, including post-transplant lymphoproliferative disorders (PTLD). Here, we present an unusual case of a kidney transplant recipient who developed follicular lymphoma (FL) 12 years post-transplant at 39 years of age, shortly after the patient's donor father also had developed FL at 60 years of age. These coincidental diagnoses motivated evaluation of the relatedness of these two cases of FL. Traditional FISH revealed the presence of a Y chromosome in the daughter's tumor. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Kartik Singhal, Marcus Watkins, Todd Fehniger, Malachi Griffith, Obi Griffith, Brad Kahl, David Russler-Germain Source Type: research
100. Ultrasensitive molecular residue disease detection enabled by genome wide concatemer error correction
While different features of cell-free DNA (cfDNA) have been utilized for early cancer detection, somatic mutation has been shown to offer the highest specificity for ctDNA detection. The recent drop of sequencing cost makes it possible to track thousands of somatic variants from the cancer genomes as cancer markers in plasma, achieving high sensitivity for molecular residual disease detection. This approach, however, will be limited by errors introduced during library preparation and sequencing. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Paul Tang Source Type: research
101. Molecular characterization of the antineoplastic effect of curcumin on acute myeloid leukemia cell lines
Acute myeloid leukemia (AML), the most common myeloid neoplasm in adults is associated with high mortality if not adequately treated. Due to its great biological and genetic heterogeneity and the advanced age of most affected patients, it becomes increasingly difficult to treat the disease with chemotherapy or bone marrow transplantation. Thus, the search for new treatments with anti-leukemic activity and less toxicity is necessary. There is evidence in the literature that curcumin, a phenolic pigment extracted from plants from the Curcuma longa species, in addition to having anti-inflammatory benefits, has anti-neoplastic...
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Victoria Tomaz, Paulo Campregher Source Type: research
102. Using cytogenomics to distinguish two types of renal cell carcinoma in a composite or collision tumor
The coexistence of phenotypically and genotypically distinct tumors within a single lesion is rare and may indicate a collision (two separate origins) or composite (common origin) tumor. This phenomenon in the kidneys may include benign and malignant tumor types including metastasis from elsewhere in the body. Collision and composite tumors of two different renal cell carcinoma subtypes is exceedingly rare. Here we present a case of a 46-year-old male patient who underwent a partial nephrectomy due to a renal mass identified by CT scan. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Lauren Wainman, Samantha Stephen, Joel Lefferts, Jason Pettus Source Type: research
103. Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP GATA2 variant curation rules
The ClinGen Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) focuses on the development of curation rules for variants in several genes that confer risk for myeloid malignancies, such as GATA2. The absence of a defined GATA2 deficient phenotype description challenges the direct application of disease-related ACMG-AMP codes. Therefore, the MM-VCEP is drafting a consensus definition of the GATA2 deficiency based on the phenotypic presentation of individuals from multiple centers worldwide using a modified Delphi approach. (Source: Cancer Genetics and Cytogenetics)
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Taylor Walker, Shruthi Mohan, Eran Tallis, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, Lucy Godley Source Type: research
