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

Expanding the spectrum of dicer1-associated sarcomas Mod Pathol. 2019 Sep 19. . View in PubMed

Germline genetic landscape of pediatric central nervous system (CNS) tumors Neuro Oncol. 2019 Jun 19. . View in PubMed

Case-based review: atypical teratoid/rhabdoid tumor Neurooncol Pract. 2019 May; 6(3):163-178. . 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 Apr; 5(2). . 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

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

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 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

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

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

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

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

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

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

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

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

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

Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma Clin Neuropathol. 2011 Sep-Oct; 30(5):235-41. . 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 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

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

A robust xenotransplantation model for acute myeloid leukemia Leukemia. 2009 Nov; 23(11):2109-17. . 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

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

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

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 J Med Genet. 2009 Jan; 46(1):68-72. . 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

Detailed analysis of 22q112 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40. . 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

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

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

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

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

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

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

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

Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation Hum Pathol. 2001 Aug; 32(8):884-6. . View in PubMed

Detailed molecular analysis of 1p36 in neuroblastoma Med Pediatr Oncol. 2001 Jan; 36(1):37-41. . View in PubMed

Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor Genes Chromosomes Cancer. 2000 May; 28(1):31-7. . View in PubMed

Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma Genes Chromosomes Cancer. 2000 Jan; 27(1):44-51. . View in PubMed

Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes J Cell Sci. 1999 Sep; 112 Pt 18:3039-47. . View in PubMed

Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11 Am J Surg Pathol. 1999 Mar; 23(3):249-56. . View in PubMed

Cytogenetics and molecular genetics of childhood brain tumors Neuro Oncol. 1999 04; 1(2):139-51. . View in PubMed

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors Cancer Res. 1999 Jan 01; 59(1):74-9. . View in PubMed

Establishment and molecular characterization of five cell lines derived from renal and extrarenal malignant rhabdoid tumors Mod Pathol. 1998 Dec; 11(12):1228-37. . View in PubMed

A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification Cancer Genet Cytogenet. 1998 Jan 15; 100(2):159-64. . View in PubMed

Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 Hum Genet. 1997 Dec; 101(3):277-83. . View in PubMed

Genetics of pediatric central nervous system tumors J Pediatr Hematol Oncol. 1997 Nov-Dec; 19(6):492-501. . View in PubMed

ECK, a human EPH-related gene, maps to 1p361, a common region of alteration in human cancers. Genomics. 1997 Mar 01; 40(2):371-4. . View in PubMed

Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease Med Pediatr Oncol. 1997 Jan; 28(1):1-5. . View in PubMed

Familial predisposition to neuroblastoma does not map to chromosome band 1p36 Cancer Res. 1996 Aug 01; 56(15):3421-5. . View in PubMed

Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 Genomics. 1996 Jul 15; 35(2):289-98. . View in PubMed

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity J Neurosurg. 1996 Jul; 85(1):56-65. . View in PubMed

Frequent expression of a mutant epidermal growth factor receptor in multiple human tumors Cancer Res. 1995 Dec 01; 55(23):5536-9. . View in PubMed

cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain Genomics. 1995 Sep 20; 29(2):426-37. . View in PubMed

Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas Int J Cancer. 1995 Aug 22; 64(4):243-7. . View in PubMed

Congenital anomalies and genetic disorders in families of children with central nervous system tumours J Med Genet. 1995 Aug; 32(8):627-32. . View in PubMed

Assignment of the GLG1 gene for MGF-160, a fibroblast growth factor and E-selectin binding membrane sialoglycoprotein of the Golgi apparatus, to chromosome 16q22-q23 by fluorescence in situ hybridization Genomics. 1995 Jul 20; 28(2):354-5. . View in PubMed

A region of consistent deletion in neuroblastoma maps within human chromosome 1p362-36. 3. Proc Natl Acad Sci U S A. 1995 Jun 06; 92(12):5520-4. . View in PubMed

Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization Genes Chromosomes Cancer. 1995 Mar; 12(3):186-92. . View in PubMed

Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2) Genomics. 1995 Jan 20; 25(2):538-46. . View in PubMed

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood J Neurooncol. 1995; 24(1):21-8. . View in PubMed

EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations J Clin Invest. 1994 Aug; 94(2):489-96. . View in PubMed

Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma Cancer Res. 1994 Jun 01; 54(11):2869-72. . View in PubMed

Abnormalities of chromosome 22 in pediatric meningiomas Genes Chromosomes Cancer. 1994 Feb; 9(2):81-7. . View in PubMed

Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines Genes Chromosomes Cancer. 1994 Feb; 9(2):129-35. . View in PubMed

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization Am J Med Genet. 1993 Apr 01; 46(1):95-7. . View in PubMed

Constitutional 1p36 deletion in a child with neuroblastoma Am J Hum Genet. 1993 Jan; 52(1):176-82. . View in PubMed

Desmoplastic primitive neuroectodermal tumor with divergent differentiationBroadening the spectrum of desmoplastic infantile neuroepithelial tumors. Am J Surg Pathol. 1992 Oct; 16(10):998-1006. . View in PubMed

Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors Cancer Res. 1992 Jun 15; 52(12):3391-5. . View in PubMed

Childhood meningiomasExperience in the modern imaging era. Pediatr Neurosurg. 1992; 18(1):16-23. . View in PubMed

Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma Genes Chromosomes Cancer. 1991 Nov; 3(6):483-4. . View in PubMed

Complex karyotypes in a series of pediatric osteosarcomas Cancer Genet Cytogenet. 1989 Mar; 38(1):89-100. . View in PubMed

A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone Cancer Genet Cytogenet. 1988 Dec; 36(2):211-5. . View in PubMed

A path probability model for sister-chromatid exchanges induced by alkylating agents Mutat Res. 1984 Mar; 126(1):35-46. . View in PubMed

Cellular replication kinetics and persistence of sister chromatid exchange-inducing lesions in normal and lymphoma AKR cells following exposure to 1,3-bis(2-chloroethyl)-1-nitrosourea Cancer Res. 1982 Jul; 42(7):2816-20. . View in PubMed

A model to study drug effects on lymphoma and normal cell populations using the AKR/J mouse Leuk Res. 1982; 6(2):269-79. . View in PubMed

Comparison of BCNU-induced SCE in bone-marrow cells of AKR/J and BDF1 mice Mutat Res. 1980 Sep; 79(1):87-90. . View in PubMed

[THE SIGNIFICANCE OF AFIBRINOGENEMIA FOR THE OBSTETRICIAN] Zentralbl Gynakol. 1964 Aug 01; 86:1089-97. . View in PubMed

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