Keck School Faculty

Jaclyn A. Biegel, PhD
Jaclyn A. Biegel, PhD
Professor of Pathology (Clinical Scholar)
Pediatrics
CHLA 4650 W. Sunset Blvd. Off Campus Los Angeles

A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants Cold Spring Harb Mol Case Stud. 2019 Feb 12. . View in PubMed

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant Cancer Genet. 2019 Feb; 231-232:62-66. . View in PubMed

Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies Cancer Res. 2019 Feb 01. . View in PubMed

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies J Mol Diagn. 2018 Nov; 20(6):765-776. . View in PubMed

Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications Blood Adv. 2017 Oct 10; 1(22):1900-1910. . View in PubMed

Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation Pediatr Blood Cancer. 2017 Sep; 64(9). . View in PubMed

Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor J Neurosurg Pediatr. 2017 Jul; 20(1):51-55. . View in PubMed

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma Am J Med Genet A. 2017 May; 173(5):1390-1395. . View in PubMed

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation Nat Genet. 2017 Feb; 49(2):289-295. . View in PubMed

Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients Genes Chromosomes Cancer. 2017 10; 56(10):730-749. . View in PubMed

Clonal hematopoiesis in patients with dyskeratosis congenita Am J Hematol. 2016 Dec; 91(12):1227-1233. . View in PubMed

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor Oncotarget. 2016 Jan 12; 7(2):1732-40. . View in PubMed

Clonal hematopoiesis in patients with dyskeratosis congenita Am J Hematol. 2016 12; 91(12):1227-1233. . View in PubMed

Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies Neuro Oncol. 2016 06; 18(6):764-78. . View in PubMed

Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia Cancer Genet. 2016 Jan-Feb; 209(1-2):1-10. . View in PubMed

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis Am J Med Genet A. 2015 Dec; 167A(12):3186-91. . View in PubMed

A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays Cancer Genet. 2015 Nov; 208(11):525-36. . View in PubMed

SMARCB1-deficient Vulvar Neoplasms: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases Am J Surg Pathol. 2015 Jun; 39(6):836-49. . View in PubMed

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia Cancer Genet. 2015 Apr; 208(4):115-28. . View in PubMed

Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas Brain Pathol. 2015 Mar; 25(2):182-92. . View in PubMed

Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target Oncotarget. 2015 Feb 20; 6(5):3165-77. . View in PubMed

Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution, multi-platform microarray study Cancer Genet. 2015 Jan-Feb; 208(1-2):1-18. . View in PubMed

Biology and Treatment of Rhabdoid Tumor Crit Rev Oncog. 2015; 20(3-4):199-216. . View in PubMed

Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient J Pediatr Oncol. 2015; 3(1):24-28. . View in PubMed

SWI/SNF chromatin remodeling complexes and cancer Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):350-66. . View in PubMed

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q112 deletion. Cancer Genet. 2014 Sep; 207(9):415-9. . View in PubMed

Introduction from the editor Cancer Genet. 2014 Sep; 207(9):345. . View in PubMed

CLL/SLL diagnosed in an adolescent Pediatr Blood Cancer. 2014 Jun; 61(6):1107-10. . View in PubMed

Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors Cancer Genet. 2014 Apr; 207(4):111-23. . View in PubMed

Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor Cancer Genet. 2014 Apr; 207(4):153-9. . View in PubMed

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes Br J Haematol. 2014 Jan; 164(1):73-82. . View in PubMed

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients Am J Hematol. 2013 Oct; 88(10):862-7. . View in PubMed

Mutational heterogeneity in cancer and the search for new cancer-associated genes Nature. 2013 Jul 11; 499(7457):214-218. . View in PubMed

Cribriform neuroepithelial tumor arising in the lateral ventricle Pediatr Dev Pathol. 2013 Jul-Aug; 16(4):301-7. . View in PubMed

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy Am J Med Genet A. 2013 May; 161A(5):993-1001. . View in PubMed

Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions Mod Pathol. 2013 Mar; 26(3):385-92. . View in PubMed

Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1 J Clin Exp Oncol. 2013; 2(2). . View in PubMed

Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7. . View in PubMed

Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis Ann Diagn Pathol. 2012 Dec; 16(6):504-7. . View in PubMed

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome Br J Haematol. 2012 Nov; 159(4):480-2. . View in PubMed

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers J Clin Invest. 2012 Aug; 122(8):2983-8. . View in PubMed

Definition of genetic events directing the development of distinct types of brain tumors from postnatal neural stem/progenitor cells Cancer Res. 2012 Jul 01; 72(13):3381-92. . View in PubMed

Novel cell lines established from pediatric brain tumors J Neurooncol. 2012 Apr; 107(2):269-80. . View in PubMed

Claudin-6 is a nonspecific marker for malignant rhabdoid and other pediatric tumors Am J Surg Pathol. 2012 Jan; 36(1):73-80. . View in PubMed

Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation Am J Surg Pathol. 2012 Jan; 36(1):154-60. . View in PubMed

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors Cancer Genet. 2012 Jan-Feb; 205(1-2):42-54. . View in PubMed

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602. . View in PubMed

Ganglioglioma arising from dysplastic cortex Epilepsia. 2011 Sep; 52(9):e106-8. . View in PubMed

p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors J Neuropathol Exp Neurol. 2011 Jul; 70(7):596-609. . View in PubMed

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system Pediatr Blood Cancer. 2011 Jul 01; 56(7):1026-31. . View in PubMed

Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician Eur J Pediatr. 2011 Mar; 170(3):285-94. . View in PubMed

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors Pediatr Blood Cancer. 2011 Jan; 56(1):7-15. . View in PubMed

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies Cancer Genet. 2011 Jan; 204(1):26-38. . View in PubMed

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel Cancer Genet. 2011 Jan; 204(1):19-25. . View in PubMed

Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas Neuro Oncol. 2010 Jul; 12(7):621-30. . View in PubMed

High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system J Neurooncol. 2010 May; 98(1):117-23. . View in PubMed

Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor J Neurosurg Pediatr. 2010 Jan; 5(1):75-9. . View in PubMed

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene Brain Pathol. 2009 Jul; 19(3):449-58. . View in PubMed

ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status Pediatr Dev Pathol. 2009 Jul-Aug; 12(4):275-83. . View in PubMed

Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor Am J Med Genet A. 2009 May; 149A(5):1067-9. . View in PubMed

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors Clin Cancer Res. 2009 Mar 15; 15(6):1923-30. . View in PubMed

SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3.. View in PubMed

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy Genome Res. 2009 Feb; 19(2):276-83. . View in PubMed

Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor J Clin Oncol. 2009 Jan 20; 27(3):385-9. . View in PubMed

Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors PLoS One. 2009; 4(2):e4482. . View in PubMed

Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas Mod Pathol. 2009 Jan; 22(1):142-50. . View in PubMed

Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability Mol Cell Biol. 2008 Oct; 28(20):6223-33. . View in PubMed

Atypical teratoid/rhabdoid tumor arising from the third cranial nerve J Neuroophthalmol. 2008 Sep; 28(3):207-11. . View in PubMed

Dramatic response of acute monoblastic leukemia to a single dose of docetaxel Leuk Lymphoma. 2008 Mar; 49(3):577-80. . View in PubMed

Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors Clin Cancer Res. 2008 Feb 15; 14(4):1218-27. . View in PubMed

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q112 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27. . View in PubMed

Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review Pediatr Dev Pathol. 2007 Sep-Oct; 10(5):409-15. . View in PubMed

Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma J Neurooncol. 2007 Sep; 84(2):217-22. . View in PubMed

Prediction of oligodendroglial tumor subtype and grade using perfusion weighted magnetic resonance imaging J Neurosurg. 2007 Sep; 107(3):600-9. . View in PubMed

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome Am J Med Genet A. 2007 Aug 01; 143A(15):1767-70. . View in PubMed

Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature J Neurooncol. 2007 Aug; 84(1):49-55. . View in PubMed

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia Genes Chromosomes Cancer. 2007 Jul; 46(7):684-93. . View in PubMed

Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium Hum Pathol. 2007 Jun; 38(6):935-9. . View in PubMed

P-Akt expression distinguishes two types of malignant rhabdoid tumors J Cell Physiol. 2006 Nov; 209(2):422-7. . View in PubMed

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation Pediatr Blood Cancer. 2006 Sep; 47(3):279-84. . View in PubMed

Parental heat exposure and risk of childhood brain tumor: a Children's Oncology Group study Am J Epidemiol. 2006 Aug 01; 164(3):222-31. . View in PubMed

Molecular genetics of atypical teratoid/rhabdoid tumor Neurosurg Focus. 2006 Jan 15; 20(1):E11. . View in PubMed

Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study Neuro Oncol. 2006 Jan; 8(1):79-82. . View in PubMed

Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17745-50. . View in PubMed

High-resolution detection and mapping of genomic DNA alterations in neuroblastoma Genes Chromosomes Cancer. 2005 Aug; 43(4):390-403. . View in PubMed

INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas Mod Pathol. 2005 Jul; 18(7):951-8. . View in PubMed

Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients Clin Cancer Res. 2005 Jul 01; 11(13):4733-40. . View in PubMed

Chromophobe renal cell carcinoma in a pediatric living-related kidney transplant recipient Am J Kidney Dis. 2005 Jun; 45(6):e105-8. . View in PubMed

INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma J Neuropathol Exp Neurol. 2005 May; 64(5):391-7. . View in PubMed

Early molecular detection of central nervous system relapse in a child with systemic anaplastic large cell lymphoma: case report and review of the literature Pediatr Blood Cancer. 2005 Apr; 44(4):400-6. . View in PubMed

Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults Brain Pathol. 2005 Jan; 15(1):23-8. . View in PubMed

Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors Am J Surg Pathol. 2004 Nov; 28(11):1485-91. . View in PubMed

Molecular analysis of pediatric brain tumors Curr Oncol Rep. 2004 Nov; 6(6):445-52. . View in PubMed

Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry J Clin Oncol. 2004 Jul 15; 22(14):2877-84. . View in PubMed

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms Am J Surg Pathol. 2004 May; 28(5):644-50. . View in PubMed

Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors Clin Cancer Res. 2002 Nov; 8(11):3461-7. . View in PubMed

No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors Genes Chromosomes Cancer. 2002 Aug; 34(4):398-405. . View in PubMed

Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop J Pediatr Hematol Oncol. 2002 Jun-Jul; 24(5):337-42. . View in PubMed

Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6 Proc Natl Acad Sci U S A. 2002 Apr 02; 99(7):4568-73. . View in PubMed

Risk assignment in childhood brain tumors: the emerging role of molecular and biologic classification Curr Oncol Rep. 2002 Mar; 4(2):114-22. . View in PubMed

Prediction of central nervous system embryonal tumour outcome based on gene expression Nature. 2002 Jan 24; 415(6870):436-42. . View in PubMed

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