Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

“…This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. …”
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Deformable Models for Segmentation of CLSM Tissue Images and Its Application in FISH Signal Analysis by P. S. Umesh Adiga, B. B. Chaudhuri

“…The segmented images have been used for the quantitative analysis of the Fluorescence In Situ Hybridization (FISH) signals. An ellipsoidal surface initialized around the cell of interest acts as a deformable model. …”
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Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Fusion in the Parotid Gland Presenting as Bell’s Palsy by Landon J. Kunzelman, Shweta Agarwal, Nathan Boyd, Cory J. Broehm

“…Immunohistochemical stains demonstrated the neoplastic cells expressed ERG, CD31, and CD34, confirming vascular differentiation. Fluorescence in situ hybridization revealed a t(1;3)(p36;q25), confirming a diagnosis of epithelioid hemangioendothelioma. …”
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Synovial Sarcoma of the Hand by Hovsep Ohan, Greg Minassian, Asaad H. Samra, Matthew J. Zdilla

“…The mass was determined to be monophasic synovial sarcoma on histopathologic exam. Fluorescence in situ hybridization for SYT gene rearrangement was positive in 72% of cells. …”
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A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels by Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet

“…The patient was referred to us after clinical, hormonal, and histopathological investigations to identify chromosomal abnormalities by karyotyping and fluorescence in situ hybridization (FISH). Analysis of the banding pattern by karyotyping followed by FISH confirmed reciprocal translocation and identified the breakpoints at Yq heterochromatin (Yq12) and 10p14. …”
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A Nonpediatric Extraosseous Ewing Sarcoma of the Pancreas: Differential Diagnosis and Therapeutic Strategies by Binoy Yohannan, Mark Feldman

“…A biopsy confirmed a small round cell tumor, and immunohistochemistry was positive for CD99 in approximately 70% of the tumor cells. A fluorescence in situ hybridization (FISH) assay showed a 22q12 rearrangement. …”
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Leveraging AI to automate detection and quantification of extrachromosomal DNA to decode drug responses by Kohen Goble, Aarav Mehta, Damien Guilbaud, Jacob Fessler, Jingting Chen, William Nenad, William Nenad, Christina G. Ford, Oliver Cope, Darby Cheng, William Dennis, Nithya Gurumurthy, Yue Wang, Kriti Shukla, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk

“…Extrachromosomal DNA (ecDNA), in contrast, represents a rapid, reversible, and predictable DNA alteration critical for cancer’s adaptive response.MethodsIn this study, we developed a novel post-processing pipeline for automated detection and quantification of ecDNA in metaphase Fluorescence in situ Hybridization (FISH) images, leveraging the Microscopy Image Analyzer (MIA) tool. …”
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Clinicopathological and molecular characterization of astrocytoma by Xiaoyan Wu, Wenfeng Peng, Xu Zhang, Tao Tang, Ling Deng, Yuxia Xu, Xiaoyun Liu, Fang Wang, Wujian Peng, Jianrong Huang, Xiaoni Zhong

“…The Ki-67 positivity index was approximately 15% in three cases and 10% in one case. Fluorescence in situ hybridization (FISH) using break-apart probes showed EWRS1 breaks in three patients and MN1 breaks in one. …”
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Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood by Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger

“…Utilization of fluorescence in situ hybridization (FISH) identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13) locus and the subtelomere (12p terminal)) on the structurally abnormal chromosome 12. …”
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Splenic B-Cell Lymphomas with Diffuse Cyclin D1 Protein Expression and Increased Prolymphocytic Cells: A Previously Unrecognized Diagnostic Pitfall by Khaled Algashaamy, Yaohong Tan, Nicolas Mackrides, Alvaro Alencar, Jing-Hong Peng, Joseph Rosenblatt, Juan P Alderuccio, Izidore S. Lossos, Francisco Vega, Jennifer Chapman

“…Both lymphomas were very unusual because the tumor cells diffusely and strongly expressed cyclin D1 despite lacking the t(11; 14)(q13; q32) as detected by several approaches including next-generation sequencing, fluorescence in situ hybridization using CCND1 break apart probe and fusion probes for t(11; 14)(q13; q32), and conventional karyotyping. …”
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Myelodysplasia and Mast Cell Leukemia with t(9;22) by Kathryn J. Lago, Matthew P. Shupe, William N. Hannah, Gopalrao V. N. Velagaleti, Christina Mendiola, Veronica Ortega, Brian R. Haney

“…Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH). Discussion. MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. …”
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RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia by Shawana Kamran, Gordana Raca, Kamran Nazir

“…We describe extensive genetic characterization of a case of B-ALL with RCSD1-ABL1 fusion, by using conventional cytogenetic analysis, Fluorescence In Situ Hybridization (FISH) studies, and Chromosomal Microarray Analysis (CMA). …”
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Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children by Lucia Migliore, Francesca Migheli, Fabio Coppedè

“…We recently observed an increased frequency of binucleated micronucleated lymphocytes in women who had a Down syndrome (DS) child before 35 years of age and the fluorescence in situ hybridization analysis revealed that micronuclei were mainly originating from chromosomal malsegregation events, including chromosome 21 malsegregation. …”
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A Hybrid Approach of Using Wavelets and Fuzzy Clustering for Classifying Multispectral Florescence In Situ Hybridization Images by Yu-Ping Wang, Ashok Kumar Dandpat

“…Multicolor or multiplex fluorescence in situ hybridization (M-FISH) imaging is a recently developed molecular cytogenetic diagnosis technique for rapid visualization of genomic aberrations at the chromosomal level. …”
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Raise of short-stemmed vaviloid branched spike lines and their cytogenetics by A. J. Aliyeva, S. P. Mehdiyeva, R. K. Kerimova

“…The chromosome composition of one of the lines (378/3SD) was characterized by fluorescence in situ hybridization (FISH) and genome in situ hybridization (GISH), and it was identified as a substitution line. …”
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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

“…Bone marrow examination showed morphologic and immunophenotypic findings typical of APL, but conventional cytogenetics, fluorescence in situ hybridization (FISH), and real-time polymerase chain reaction (RT-PCR) showed no evidence of RARA rearrangements. …”
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Giant Protruding Nodular Fasciitis of the Anterior Chest Wall Clinically Mimicking a Soft Tissue Sarcoma by Hideyuki Kinoshita, Tsukasa Yonemoto, Hiroto Kamoda, Yoko Hagiwara, Toshinori Tsukanishi, Sumihisa Orita, Kazuhide Inage, Naoya Hirosawa, Seiji Ohtori, Takeshi Ishii

“…NF was diagnosed after pathological evaluation, including immunohistochemical analysis, molecular genetic testing, and cytogenetic testing via fluorescence in situ hybridization analysis. Knowledge of the atypical clinical course and a combination of histopathological examinations are necessary to accurately diagnose NF.…”
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An Unsuspected Finding of t(9;22): A Rare Case of Philadelphia Chromosome-Positive B-Lymphoblastic Lymphoma by Prajwal Boddu, C. Cameron Yin, Rashmi Kanagal-Shamanna, Guillin Tang, Beenu Thakral, Tapan Kadia, Marina Konopleva, Elias Jabbour, Nitin Jain

“…During this time, fluorescence in situ hybridization (FISH) and PCR testing for BCR-ABL1 rearrangements were being performed on the marrow specimens as a part of routine diagnostic workup. …”
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Composite Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma and T-Prolymphocytic Leukemia Presenting with Lymphocytosis, Skin Lesions, and Generalized Lymphadenopathy by Ali Sakhdari, Guilin Tang, Lawrence E. Ginsberg, Cheryl F. Hirsch-Ginsberg, Carlos E. Bueso-Ramos, L. Jeffrey Medeiros, Roberto N. Miranda

“…After 2 years, the T-PLL component became more apparent with cutaneous and hematologic manifestations and the diagnosis was confirmed by immunophenotypic and cytogenetic analysis. Fluorescence in situ hybridization demonstrated an ATM deletion in both CLL and T-PLL components. …”
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Intramammary Angiomatoid Fibrous Histiocytoma, a Rare EWSR1 Rearranged Mesenchymal Neoplasm in a Previously Unreported Anatomic Location with Review of the Cleveland Clinic Experie... by F. K. Bruehl, K. L. Cooper, S. E. Kilpatrick, M. D. Weindel, M. Ganea, C. Astbury, E. P. Downs-Kelly, C. D. Sturgis

“…The lesional cells in this case were found to be immunoreactive with desmin, and a positive EWSR1 result was confirmed by break-apart fluorescence in situ hybridization testing. To our knowledge, this is the first report of AFH arising in the breast parenchyma of a postmenopausal female.…”
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