Assessing the clinical utility of chromosomal microarray analysis in childhood cancers
Dr. Jacyln Biegel
Thursday, July 28, 2016
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Chapters
Introduction
CMA analysis as an aid
Childhood vs Adult Malignancies
CMA platforms
Pediatric Brain Tumors
Pediatric Glioma
Juvenile pilocytic glioma (JPA)
7q34 duplication (1.9 Mb) with breakpoints within KIAA1549 and BRAF
Variant 7q deletions result in KIAA1549-BRAF or FAM131B-BRAF fusions
Recurrent alterations in pediatric low grade gliomas
4 year old with ?Glioblastoma
6q22.1 deletion (247 kb) with a proximal breakpoint in the ROS1 locus, and a distal breakpoint within the GOPC (FIG) locus
Fusion of FIG
Glioblastoma
Five segments of amplification of chromosome 12
Rhabdoid tumor of the CNS, kidney or soft tissues and SMARCB1 alterations
Somatic, overlapping deletions that include SMARCB1
Normal | Pineoblastoma
22q11.2 deletion proximal to SMARCB1
Choroid Plexus Carcinoma
Embryonal tumors
Wilms tumor of the kidney
Wilms tumor
Wilms tumor - deletion 11q
Wilms UPD for 11p
Wilms tumor 4 copies of chromosome 12 with additional alterations
Interstitial deletion of 1p and gain of 1q
Wilms tumor Deletion of 16q
Xq11.2 deletion (854 kb) includes AMER1 (aka WTX or FAM123B)
Adrenocortical Carcinoma
Adrenocortical Carcinoma 17p LOH and deletion 17q
Common Pediatric Sarcomas
Alveolar rhabdomyosarcoma
Alveolar rhabdomysarcoma with amplification of PAX7
Alveolar Rhabdomysarcoma with amplification of FOXO1
Undifferentiated sarcoma
Amplification of PDGFRA
Amplification of MDM2
Conclusions
Acknowledgements
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