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Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
- K. Kurek, V. Luks, +8 authors M. Warman
- Biology, Medicine
- American journal of human genetics
- 8 June 2012
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and… Expand
Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
- Twinkal C. Pansuriya, R. van Eijk, +24 authors J. Bovée
- Biology, Medicine
- Nature Genetics
- 6 November 2011
Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We… Expand
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
OBJECTIVES To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders… Expand
The genomic landscape of pediatric Ewing sarcoma.
UNLABELLED Pediatric Ewing sarcoma is characterized by the expression of chimeric fusions of EWS and ETS family transcription factors, representing a paradigm for studying cancers driven by… Expand
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or… Expand
PTEN Hamartoma of Soft Tissue: A Distinctive Lesion in PTEN Syndromes
- K. Kurek, Emily S. Howard, +11 authors H. Kozakewich
- The American journal of surgical pathology
- 1 May 2012
PTEN hamartoma tumor syndrome (PHTS) presents in a spectrum that encompasses the eponymous disorders Cowden and Bannayan-Riley-Ruvalcaba. Herein, we delineate the distinctive histopathology of a… Expand
MicroRNA paraffin-based studies in osteosarcoma reveal reproducible independent prognostic profiles at 14q32
BackgroundAlthough microRNAs (miRNAs) are implicated in osteosarcoma biology and chemoresponse, miRNA prognostic models are still needed, particularly because prognosis is imperfectly correlated with… Expand
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma
Poor prognosis in neuroblastoma is associated with genetic amplification of MYCN. MYCN is itself a target of let-7, a tumour suppressor family of microRNAs implicated in numerous cancers. LIN28B, an… Expand
Detection and diagnostic value of urine leucine-rich α-2-glycoprotein in children with suspected acute appendicitis.
STUDY OBJECTIVE Previously, we used a proteomics approach for the discovery of new diagnostic markers of acute appendicitis and identified leucine-rich α-2-glycoprotein (LRG) that was elevated in the… Expand
Frequent attenuation of the WWOX tumor suppressor in osteosarcoma is associated with increased tumorigenicity and aberrant RUNX2 expression.
The WW domain-containing oxidoreductase (WWOX) is a tumor suppressor that is deleted or attenuated in most human tumors. Wwox-deficient mice develop osteosarcoma (OS), an aggressive bone tumor with… Expand