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Pediatric Studies


Lipoblastoma is a rare benign neoplasm that can be difficult to histologically distinguish from other lipomatous tumors. PLAG1 aberrations are recurrent in lipoblastoma. The subjects of this study were 3 pediatric lipoblastoma patients with varying types of PLAG1 aberrations (including deletions, amplifications, and rearrangements), all which resulted in different modes of PLAG1 upregulation. Our PLAG1 break apart probe was used to detect PLAG1 rearrangements in the tumors.

Published: 10/16/2019

Related Probes: PLAG1 Break Apart Fish Probe


While studies are plentiful on adult gliomas, infant cases are historically understudied. This team sought to account for that lack of data by analyzing glioma biopsies from 150 infants. As part of genetic profiling, our ALK break apart probe was used to detect ALK rearrangements. The team was able to divide the tumors into three genetic subtypes that were tightly tied to clinical outcome. They also found that many of the tumors harbored just a single oncogene, evidence that infant gliomas are usually single driver tumors.

Published: 09/25/2019

Related Probes: ALK Break Apart Fish Probe


Although several RUNX1-USP42 fusions have been described in acute myeloid leukemia (AML), the clinical effects of this abnormality remain poorly understood. The few reported cases have harbored additional genetic abnormalities, the most frequent being 5q deletions. This study reported on 3 cases of pediatric RUNX1-USP42-fused AML. Empire Genomics RUNX1 break apart probe and RUNX1-USP42 fusion probe were used to detect rearrangements of the genes. Co-occurring genetic aberrations included del(5q) and cnLOH of 11p. Results point to the fusion as a rare but recurrent mutation in pediatric AML, with distinct accompanying mutations.

Published: 12/31/2018

Related Probes: RUNX1-USP42 Break Apart Fish Probe


Ependymoma is a tumor that arises from tissue of the nervous system. Rare cases involve a YAP1/MAMLD1 fusion that can occur in childhood. This study sought to expand on the unique clinical features of neoplasms harboring this fusion. Our YAP1 break apart probe was used to detect YAP1 gene rearrangements in several of the cases under study. It was determined that YAP1/MAMLD1 fusion ependymomas display characteristics that distinct from RELA fusion ependymomas.

Published: 08/31/2018

Related Probes: YAP1 Break Apart Fish Probe


Congenital hypoplastic bone marrow failure is a rare condition in newborns with largely unknown genetics and mechanisms. A newborn patient with congenital thrombocytopenia and anemia was characterized at the cellular level. Along with other testing, FISH analysis was performed with various probes including our RP11-115B16 BAC clone. Our probe confirmed a 3q26.2 deletion that was detected with array-CGH analysis. It was concluded that this deletion is a very rare recurrent abnormality in congenital thrombocytopenia, and that the locus could be an important target for diagnosing.

Published: 05/20/2018

Related Probes: RP11-115B16 Fish Probe


Atypical spitzoid neoplasms (APNs) are primarily pediatric lesions characterized by their intermediate features; clinically and histopathologically, they fall somewhere between benign spitz nevi and malignant melanoma. The genetics of these tumors are still poorly understood. In this study, 34 APNs were analyzed using FISH and IHC. Our ALK, BRAF, and NTRK1 break-apart FISH probes were used to detect rearrangements of the genes .

Published: 03/01/2017

Related Probes: NTRK1 Break Apart Fish Probe