Novel PPP1CB-ALK fusion protein in a high-grade glioma of infancy

Aghajan, Yasmin; Levy, Michael L.; Malicki, Denise; Crawford, John R.

doi:10.1136/bcr-2016-217189

Cited by 35 publications

(34 citation statements)

References 2 publications

(3 reference statements)

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“…ALK fusions are well‐known therapeutic targets detected in various types of cancer . In the present case, as observed in other recurrent ALK fusions, the kinase domain of ALK and the coiled‐coil domain of its fusion partner, PRRC2B , were retained .…”

supporting

confidence: 71%

Subependymal giant cell astrocytoma harboring a PRRC2B‐ALK fusion: A case report

Tsurubuchi

Nakano²,

Hirato

et al. 2019

Pediatric Blood & Cancer

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supporting

confidence: 71%

Subependymal giant cell astrocytoma harboring a PRRC2B‐ALK fusion: A case report

Tsurubuchi

Nakano²,

Hirato

et al. 2019

Pediatric Blood & Cancer

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“…only been reported in one case of congenital HGG; the patient did well following resection alone. 18 Similarly, our patient required only resection for a sustainable remission. with anaplastic ependymoma histologically and tested positive for MN1-CXXC5 fusion.…”

Section: Myb-qki Fusionmentioning

confidence: 70%

“…Anaplastic lymphoma kinase (ALK) gene fusions have been observed in numerous pediatric cancers, including CNS tumors . PPP1CB‐ALK fusion has only been reported in one case of congenital HGG; the patient did well following resection alone . Similarly, our patient required only resection for a sustainable remission.…”

Section: Resultsmentioning

confidence: 99%

“…Fusions involving PPP1CB are less common and have most frequently been reported in leukemias (fused with YPEL5) and recently reported as PPP1CB‐ALK in a patient with uterine leiomyosarcoma . The first case of PPP1CB‐ALK fusion in a primary CNS tumor was in a 3‐month‐old girl with supratentorial HGG . This patient underwent GTR followed by cyst fenestration at 9 months of age.…”

Section: Novel and Rare Fusion Events In Pediatric Gliomasmentioning

confidence: 99%

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Targeted fusion analysis can aid in the classification and treatment of pediatric glioma, ependymoma, and glioneuronal tumors

Lake

Donson

Prince

et al. 2019

Pediatric Blood & Cancer

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Background The use of next‐generation sequencing for fusion identification is being increasingly applied and aids our understanding of tumor biology. Some fusions are responsive to approved targeted agents, while others have future potential for therapeutic targeting. Although some pediatric central nervous system tumors may be cured with surgery alone, many require adjuvant therapy associated with acute and long‐term toxicities. Identification of targetable fusions can shift the treatment paradigm toward earlier integration of molecularly targeted agents. Methods Patients diagnosed with glial, glioneuronal, and ependymal tumors between 2002 and 2019 were retrospectively reviewed for fusion testing. Testing was done primarily using the ArcherDx FusionPlex Solid Tumor panel, which assesses fusions in 53 genes. In contrast to many previously published series chronicling fusions in pediatric patients, we compared histological features and the tumor classification subtype with the specific fusion identified. Results We report 24 cases of glial, glioneuronal, or ependymal tumors from pediatric patients with identified fusions. With the exception of BRAF:KIAA1549 and pilocytic/pilomyxoid astrocytoma morphology, and possibly QKI‐MYB and angiocentric glioma, there was not a strong correlation between histological features/tumor subtype and the specific fusion. We report the unusual fusions of PPP1CB‐ALK, CIC‐LEUTX, FGFR2‐KIAA159, and MN1‐CXXC5 and detail their morphological features. Conclusions Fusion testing proved to be informative in a high percentage of cases. A large majority of fusion events in pediatric glial, glioneuronal, and ependymal tumors can be identified by relatively small gene panels.

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“…The authors found a single case bearing PPP1CB‐ALK fusion in pediatric astrocytoma. Additionally, Aghajan et al have also described an EML4‐ALK translocation in a 3‐month‐old infant with HGG. Finally, Olsen et al described two additional ALK fusions ( KTN1‐ALK and CCDC88A‐ALK ) occurring in ependymoma‐like gliomas.…”

mentioning

confidence: 98%

Perinatal complex low‐ and high‐grade glial tumor harboring a novel GIGYF2‐ALK fusion

Valera

Neder

Queiróz

et al. 2019

Pediatric Blood & Cancer

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Novel PPP1CB-ALK fusion protein in a high-grade glioma of infancy

Cited by 35 publications

References 2 publications

Subependymal giant cell astrocytoma harboring a PRRC2B‐ALK fusion: A case report

Subependymal giant cell astrocytoma harboring a PRRC2B‐ALK fusion: A case report

Targeted fusion analysis can aid in the classification and treatment of pediatric glioma, ependymoma, and glioneuronal tumors

Perinatal complex low‐ and high‐grade glial tumor harboring a novel GIGYF2‐ALK fusion

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