PCMMD: A Novel Dataset of Plasma Cells to Support the Diagnosis of Multiple Myeloma by Caio L. B. Andrade, Marcos V. Ferreira, Brenno M. Alencar, Jorge L. S. B. Filho, Matheus A. Guimaraes, Iarley Porto Cruz Moraes, Tiago J. S. Lopes, Allan S. dos Santos, Mariane M. dos Santos, Maria I. C. S. e Silva, Izabela M. D. R. P. Rosa, Gilson C. de Carvalho, Herbert H. M. Santos, Márcia M. L. Santos, Roberto Meyer, Luciana M. P. B. Knop, Songeli M. Freire, Ricardo A. Rios, Tatiane N. Rios

“…Abstract Multiple Myeloma (MM) is a cytogenetically heterogeneous clonal plasma cell proliferative disease whose diagnosis is supported by analyses on histological slides of bone marrow aspirate. …”
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Genetic Alterations in Presumptive Precursor Lesions of Breast Carcinomas by Michaela Aubele, Martin Werner, Heinz Höfler

“…These presumptive precursor lesions are currently defined by their histological features, and their prognosis is imprecisely estimated from indirect epidemiological evidence. Cytogenetic and molecular‐genetic analysis of these lesions give evidence for an accumulation of various genetic alterations during breast tumorigenesis. …”
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Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation by Imad Fadl-Elmula, Rania Giha, Sawsan AH Deaf, Lamyaa Ahmed El Hassan, Ahmed M. Hassan, Mohamed AR Arbab

“…Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene. …”
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome by Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki

“…These results of molecular cytogenetic analyses were consistent with the fetal sonographic findings. …”
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Mosaic Trisomy 18 in a Five-Month-Old Infant by Ana Laura Fitas, Mafalda Paiva, Ana Isabel Cordeiro, Luís Nunes, Gonçalo Cordeiro-Ferreira

“…A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. …”
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Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome by Ivana Joksic, Mina Toljic, Nela Maksimovic, Dijana Perovic, Tatjana Damnjanovic, Aleksandar Jurisic

“…Conclusion: Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. …”
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Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome by Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato

“…We found that basophils can be confirmed on the basis of the positivity for CD203c and CD294 by flow cytometric analysis. We also found by cytogenetic analysis that basophils were derived from myeloblasts. …”
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Metastatic Malignant Ectomesenchymoma Initially Presenting as a Pelvic Mass: Report of a Case and Review of Literature by A. Nael, P. Siaghani, W. W. Wu, K. Nael, Lisa Shane, S. G. Romansky

“…The metastatic tumor revealed sheets of primitive tumor cells and diagnostic areas of rhabdomyosarcoma and neuroblastoma were identified only by immunohistochemistry. Cytogenetic analysis of metastatic tumor demonstrated complex karyotype with multiple chromosomal deletions and duplications. …”
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ETV6-RUNX1 Rearrangement in Tunisian Pediatric B-Lineage Acute Lymphoblastic Leukemia by Abir Gmidène, Hatem Elghezal, Hlima Sennana, Yosra Ben Youssef, Balkiss Meddeb, Moez Elloumi, Abderrahim Khlif, Ali Saad

“…In this study, Forty-one out of fifty-seven Tunisian children with B-lineage acute lymphoblastic leukemia (B-ALL), and without cytogenetically detectable recurrent abnormalities at the time of the diagnosis, were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21). …”
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Recurrence of a t(8;21)-Positive Acute Myeloid Leukemia in the Form of a Granulocytic Sarcoma Involving Cranial Bones: A Diagnostic and Therapeutic Challenge by Ambra Di Veroli, Alessandro Micarelli, Mariagiovanna Cefalo, Eleonora Ceresoli, Daniela Nasso, Laura Cicconi, Simone Mauramati, Fabrizio Ottaviani, Adriano Venditti, Sergio Amadori

“…Approximately 10% of M2 AML patients will develop GS, as a consequence, the t(8;21) and the relative transcript represent the most common cytogenetic and molecular abnormalities in GS. FLT3-ITD mutation was rarely described in AML patients presenting with GS. …”
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A Review of the Aetiopathogenesis and Clinical and Histopathological Features of Oral Mucosal Melanoma by Liviu Feller, Razia A. G. Khammissa, Johan Lemmer

“…The pathogenesis of oral mucosal melanoma is complex involving multiple interactions between cytogenetic factors including dysregulation of the cKit signalling pathways, cell cycle, apoptosis, and cell-to-cell interactions on the one hand and melanin itself, melanin intermediates, and local microenvironmental agents regulating melanogenesis on the other hand. …”
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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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Evaluation of Possible Genotoxic Activity of Dirithromycin in Cultured Human Lymphocytes by Ahmet Kayraldız, Lale Dönbak, Ayşe Yavuz Kocaman, Esra Köker, Şule Gökçe

“…The results of this study indicated that dirithromycin treatment caused genetic damage by increasing the level of cytogenetic endpoints, suggesting its genotoxic and mutagenic action on human lymphocytes in vitro.…”
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High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA by Benjamin Powers, Diane Persons, Deepthi Rao, Janet Woodroof, Tara L. Lin

“…Subsequent FISH and cytogenetic analysis revealed a unique translocation involving five chromosomal regions: 9q34, 17q21, 15q24, 12q13, and 15q26.1. …”
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Bone Marrow-Liver-Spleen Type of Large B-Cell Lymphoma Associated with Hemophagocytic Syndrome: A Rare Aggressive Extranodal Lymphoma by Kirill A. Lyapichev, Jennifer R. Chapman, Oleksii Iakymenko, Offiong F. Ikpatt, Uygar Teomete, Sandra Patricia Sanchez, Francisco Vega

“…To date there is only one series of 11 cases of BLS type of LBCL with detailed clinical, pathologic, and cytogenetic data. Herein, we describe a case of BLS type LBCL presenting with associated HLH in a 73-year-old female. …”
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Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography by Ingrid Schwach Werneck Britto, Sandra Regina Silva Herbest, Giselle Darahem Tedesco, Carolina Leite Drummond, Luiz Claudio Silva Bussamra, Edward Araujo Júnior, Rodrigo Ruano, Simone Hernandez Ruano, José Mendes Aldrighi

“…Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. …”
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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. …”
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Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome by Guillaume Jedraszak, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, Gilles Morin

“…In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. …”
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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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PHOTOPROBER® Biotin: An Alternative Method for Labeling Archival DNA for Comparative Genomic Hybridization by Dirk Korinth, Konrad Donhuijsen, Ulrike Bockmühl, Iver Petersen

“…Particularly it enabled the molecular cytogenetic analysis of archival, formalin‐fixed, paraffin‐embedded (FFPE) tissue. …”
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