Faculty

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

Publications

Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor. J Neurosurg Pediatr. 2017 Apr 07; 1-5. View in: PubMed

Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation. Pediatr Blood Cancer. 2017 Jan 23. View in: PubMed

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation. Nat Genet. 2016 Dec 12. View in: PubMed

Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016 Sep 13. View in: PubMed

Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings. Pediatr Blood Cancer. 2016 Jul; 63(7):1175-80. View in: PubMed

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

Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. J Neuropathol Exp Neurol. 2016 Apr; 75(4):306-15. 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 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; 167(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

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

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

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11. 2 deletion. Cancer Genet. 2014 Sep; 207(9):415-9. 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

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):214-8. 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 1; 122(8):2983-8. View in: PubMed

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

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

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

Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011 Jul 1; 56(7):1026-31. 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

Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11. 2 deletion syndrome. J Neurooncol. 2011 May; 102(3):509-14. 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

The genetic landscape of the childhood cancer medulloblastoma. Science. 2011 Jan 28; 331(6016):435-9. 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

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

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

ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth. Cancer Res. 2010 Feb 1; 70(3):1236-46. 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

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

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

The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009 Mar; 8(5):412-6. 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

Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol. 2009 Jan-Feb; 28(1):1-10. 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 22q11. 2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27. 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

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

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2007 Aug 1; 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 1; 164(3):222-31. View in: PubMed

Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006; 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 6; 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 1; 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

TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. J Clin Oncol. 2003 Dec 15; 21(24):4505-9. 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 2; 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

The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res. 2002 Jan 1; 62(1):323-8. View in: PubMed

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