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Gordana Raca, MD, PhD

Professor of Clinical Pathology

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Email [email protected]
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Publications

  • Undifferentiated embryonal sarcoma of the liver: A clinicopathological and genomic study of 10 cases from a single institution. Hum Pathol. 2025 Nov; 165:105935.. View in PubMed
  • Erratum: Hematopoietic Stem Cell Transplantation Outcomes for High-Risk AML: A Report From the Children’s Oncology Group. J Clin Oncol. 2025 Aug 20; 43(24):2757.. View in PubMed
  • Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution. Virchows Arch. 2025 Aug 14.. View in PubMed
  • Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 Aug; 27(8):101452.. View in PubMed
  • Achievement of durable remission of relapsed/refractory acute myeloid leukemia in a child using venetoclax monotherapy. Leuk Lymphoma. 2025 Jul; 66(7):1333-1337.. View in PubMed
  • The CAP/ACMG CYCGH proficiency testing program: 10 years in review. Genet Med. 2025 Jul; 27(7):101445.. View in PubMed
  • Hematopoietic Stem Cell Transplantation Outcomes for High-Risk AML: A Report From the Children’s Oncology Group. J Clin Oncol. 2025 Jun 10; 43(17):1961-1971.. View in PubMed
  • Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping. Am J Hematol. 2025 Jun; 100(6):1029-1048.. View in PubMed
  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16.. View in PubMed
  • Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype. Leuk Lymphoma. 2024 Dec; 65(12):1840-1852.. View in PubMed
  • A de novo germline RUNX1 variant preceding development of concurrent T-lymphoblastic leukemia and myelodysplastic syndrome. Leuk Lymphoma. 2024 Sep; 65(9):1357-1361.. View in PubMed
  • Development of second genetically distinct T-lymphoblastic leukemia in a pediatric patient. Pediatr Blood Cancer. 2024 Aug; 71(8):e31050.. View in PubMed
  • IKZF1PLUS alterations contribute to outcome disparities in Hispanic/Latino children with B-lymphoblastic leukemia. Pediatr Blood Cancer. 2024 Jul; 71(7):e30996.. View in PubMed
  • Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 05; 26(5):337-348.. View in PubMed
  • Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes. Genet Med. 2024 04; 26(4):101054.. View in PubMed
  • A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 04; 99(4):642-661.. View in PubMed
  • Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution. Am J Surg Pathol. 2024 Feb 01; 48(2):194-203.. View in PubMed
  • An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 02; 26(2):127-139.. View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma. Mod Pathol. 2024 Feb; 37(2):100385.. View in PubMed
  • Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy. Pediatr Neurol. 2024 Jan; 150:50-56.. View in PubMed
  • Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory. J Mol Diagn. 2024 01; 26(1):49-60.. View in PubMed
  • Analytic Validation of Optical Genome Mapping in Hematological Malignancies. Biomedicines. 2023 Dec 09; 11(12).. View in PubMed
  • Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories. Cancers (Basel). 2023 Nov 19; 15(22).. View in PubMed
  • Response to Spurdle et al. Genet Med. 2023 Aug; 25(8):100869.. View in PubMed
  • Efficacy and safety of FLAG-IDA as front-line therapy in de novo paediatric acute myeloid leukaemia population. Br J Haematol. 2023 07; 202(1):e3-e6.. View in PubMed
  • Modern Classification and Management of Pediatric B-cell Leukemia and Lymphoma. Surg Pathol Clin. 2023 Jun; 16(2):249-266.. View in PubMed
  • ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372.. View in PubMed
  • Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100316.. View in PubMed
  • CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241.. View in PubMed
  • Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 Sep; 24(9):1991.. View in PubMed
  • Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping. Blood Adv. 2022 06 14; 6(11):3343-3346.. View in PubMed
  • MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia. Leuk Lymphoma. 2022 06; 63(6):1436-1444.. View in PubMed
  • Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genet. 2022 06; 264-265:50-59.. View in PubMed
  • Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells. Int J Surg Pathol. 2022 May; 30(3):307-312.. View in PubMed
  • Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 05; 24(5):986-998.. View in PubMed
  • A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.. View in PubMed
  • Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review. Int J Surg Pathol. 2022 Apr; 30(2):172-176.. View in PubMed
  • PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140.. View in PubMed
  • Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis. Cancer Genet. 2022 01; 260-261:37-40.. View in PubMed
  • Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2022 Jan; 36(1):299-300.. View in PubMed
  • Recommendations for future extensions to the HGNC gene fusion nomenclature. Leukemia. 2021 12; 35(12):3611-3612.. View in PubMed
  • Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2021 Nov; 23(11):2230.. View in PubMed
  • Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children-a novel health disparity. Leukemia. 2021 08; 35(8):2399-2402.. View in PubMed
  • Increased prevalence of CRLF2 rearrangements in obesity-associated acute lymphoblastic leukemia. Blood. 2021 07 15; 138(2):199-202.. View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254-255:25-33.. View in PubMed
  • Primary Knee Intra-articular Synovial Sarcoma in Pediatric and Adolescent Patients. Pediatr Dev Pathol. 2021 Mar-Apr; 24(2):159-163.. View in PubMed
  • Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. Arch Pathol Lab Med. 2021 02 01; 145(2):176-190.. View in PubMed
  • Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder. Eur J Med Genet. 2021 Jan; 64(1):104121.. View in PubMed
  • Response to Mounts and Besser. Genet Med. 2021 01; 23(1):240-242.. View in PubMed
  • Response to Maya et al. Genet Med. 2020 07; 22(7):1278-1279.. View in PubMed
  • Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.. View in PubMed
  • Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia. Cancer Genet. 2020 05; 243:52-72.. View in PubMed
  • A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. Nat Genet. 2020 04; 52(4):448-457.. View in PubMed
  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 02; 22(2):245-257.. View in PubMed
  • Standard operating procedure for curation and clinical interpretation of variants in cancer. Genome Med. 2019 11 29; 11(1):76.. View in PubMed
  • Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med. 2019 09; 21(9):1903-1916.. View in PubMed
  • A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 04; 5(2).. View in PubMed
  • Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms. Cancer Genet. 2018 12; 228-229:197-217.. View in PubMed
  • Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet. 2018 12; 228-229:218-235.. View in PubMed
  • Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. Hum Mutat. 2018 11; 39(11):1721-1732.. View in PubMed
  • OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776.. View in PubMed
  • Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia. Pediatr Blood Cancer. 2018 09; 65(9):e27265.. View in PubMed
  • Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Blood Adv. 2018 01 23; 2(2):146-150.. View in PubMed
  • A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia. Cancer Genet. 2017 Oct; 216-217:91-99.. View in PubMed
  • Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL). Leuk Lymphoma. 2017 04; 58(4):950-958.. View in PubMed
  • Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence. Pediatr Blood Cancer. 2016 Jun; 63(6):1019-23.. View in PubMed
  • Congenital B-lymphoblastic leukemia with a cryptic MLL rearrangement and post-treatment evolution to mixed phenotype acute leukemia. Leuk Res Rep. 2016; 6:29-32.. View in PubMed
  • Cerdulatinib, a novel dual SYK/JAK kinase inhibitor, has broad anti-tumor activity in both ABC and GCB types of diffuse large B cell lymphoma. Oncotarget. 2015 Dec 22; 6(41):43881-96.. View in PubMed
  • T-LAK cell-originated protein kinase presents a novel therapeutic target in FLT3-ITD mutated acute myeloid leukemia. Oncotarget. 2015 Oct 20; 6(32):33410-25.. View in PubMed
  • Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era. JAMA Oncol. 2015 Oct; 1(7):965-74.. View in PubMed
  • Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma. Leukemia. 2015 Oct; 29(10):2113-6.. View in PubMed
  • Prognosis in Chronic Lymphocytic Leukemia-Reply. JAMA Oncol. 2015 Oct; 1(7):988-9.. View in PubMed
  • RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia. Leuk Lymphoma. 2015 Apr; 56(4):1145-7.. View in PubMed
  • MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site. Case Rep Pathol. 2015; 2015:537297.. View in PubMed
  • RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia. Case Rep Hematol. 2015; 2015:353247.. View in PubMed
  • Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays. Leuk Res. 2014 Sep; 38(9):1091-6.. View in PubMed
  • Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study. Haematologica. 2014 May; 99(5):821-9.. View in PubMed
  • PLZF staining identifies peripheral T-cell lymphomas derived from innate-like T-cells with TRAV1-2-TRAJ33 TCR-α rearrangement. Blood. 2014 Apr 24; 123(17):2742-3.. View in PubMed
  • MECP2 duplication: possible cause of severe phenotype in females. Am J Med Genet A. 2014 Apr; 164A(4):1029-34.. View in PubMed
  • Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord. 2013 Oct 02; 5(1):29.. View in PubMed
  • The advantage of using SNP array in clinical testing for hematological malignancies–a comparative study of three genetic testing methods. Cancer Genet. 2013 Sep-Oct; 206(9-10):317-26.. View in PubMed
  • Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Eur J Hum Genet. 2013 Apr; 21(4):455-9.. View in PubMed
  • The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013 Mar; 45(3):242-52.. View in PubMed
  • A case of pediatric γ/δ T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant. Leuk Lymphoma. 2013 Feb; 54(2):403-5.. View in PubMed
  • Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression. Pediatr Blood Cancer. 2013 Feb; 60(2):332-5.. View in PubMed
  • A Unique “Composite” PTLD with Diffuse Large B-Cell and T/Anaplastic Large Cell Lymphoma Components Occurring 17 Years after Transplant. Case Rep Hematol. 2013; 2013:386147.. View in PubMed
  • MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia. J Assoc Genet Technol. 2013; 39(4):190-4.. View in PubMed
  • Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet Med. 2012 Nov; 14(11):928-36.. View in PubMed
  • Acute myeloid leukemia: the challenge of unfavorable cytogenetics. Oncology (Williston Park). 2012 Aug; 26(8):724, 726-7.. View in PubMed
  • Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet A. 2012 Jun; 158A(6):1437-41.. View in PubMed
  • Phenotype of FOXP2 haploinsufficiency in a mother and son. Am J Med Genet A. 2012 Jan; 158A(1):174-81.. View in PubMed
  • DNA methylation assay for X-chromosome inactivation in female human iPS cells. Stem Cell Rev Rep. 2011 Nov; 7(4):969-75.. View in PubMed
  • Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med. 2011 May; 13(5):437-42.. View in PubMed
  • Chromosomal abnormalities in 2 cases of testicular failure. J Androl. 2011 May-Jun; 32(3):226-31.. View in PubMed
  • Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism. Cytogenet Genome Res. 2011; 132(4):233-8.. View in PubMed
  • Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab. 2010 Jun; 100(2):184-92.. View in PubMed
  • Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals. Am J Med Genet A. 2010 Apr; 152A(4):904-15.. View in PubMed
  • Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism. Am J Med Genet A. 2009 Nov; 149A(11):2588-92.. View in PubMed
  • Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A. 2009 Nov; 149A(11):2437-43.. View in PubMed
  • Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med. 2008 Aug; 10(8):599-611.. View in PubMed
  • Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. Am J Med Genet A. 2008 Feb 01; 146A(3):401-4.. View in PubMed
  • Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60.. View in PubMed
  • NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.. View in PubMed
  • Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test. 2004; 8(4):387-94.. View in PubMed
  • Progressive dystonia in a 12-year-old boy. Eur J Paediatr Neurol. 2003; 7(2):85-8.. View in PubMed
  • Expansion of the (CTG)(n) repeat in the 5′-UTR of a reporter gene impedes translation. Nucleic Acids Res. 2000 Oct 15; 28(20):3943-9.. View in PubMed
  • Trinucleotide repeats affect DNA replication in vivo. Nat Genet. 1997 Nov; 17(3):298-304.. View in PubMed

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