title: Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma.
abstract: The sarcomatous element in pleuropulmonary blastoma (PPB) is often histologically indistinguishable from embryonal rhabdomyosarcoma (ERMS). A diagnosis of PPB is often made after definitive surgical resection based on pathologic features, most notably the presence of hamartomatous pulmonary elements. Samples from seven PPB patients were obtained from the rhabdomyosarcomatous portion of the tumor by macrodissection. Representative ERMS tumor tissue was selected from 21 ERMS patient samples. Formalin-fixed paraffin-embedded tissue scrolls from each sample were analyzed using the Affymetrix Human Exon arrays. All PPB patients and 7 of 21 ERMS patients were 3 years old and younger. Twenty transcripts (10 annotated, 10 noncoding RNAs) were significantly differentially expressed in ERMS when compared with PPB samples. Insulin-like growth factor 2 (IGF2) was uniformly overexpressed in ERMS (19/21>400) but was expressed at low levels in PPB (P<0.001). Two ERMS cases that had low level IGF2 expression were 3 years and younger of age. No other differences between the 2 approached this degree of significance, despite a common rhabdomyogenic phenotype in the sarcomatous areas of PPB. PPB, unlike most ERMS, appears not to be driven by autocrine IGF2 signaling.
authors.affiliation: *Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX †Department of Pathology and Laboratory Medicine ‡Division of Hematology, Oncology and BMT, Children's Hospital Los Angeles §Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA.
authors.forename: Rajkumar
authors.initials: R
authors.lastname: Venkatramani
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Triche
authors.forename: Larry
authors.initials: L
authors.lastname: Wang
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shimada
authors.forename: Leo
authors.initials: L
authors.lastname: Mascarenhas
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D003937:Diagnosis, Differential; D020869:Gene Expression Profiling; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D007231:Infant, Newborn; D007335:Insulin-Like Growth Factor II / Q000235:genetics* / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D016612:Paraffin Embedding; D011379:Prognosis; D018202:Pulmonary Blastoma / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018233:Rhabdomyosarcoma, Embryonal / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; C035170:IGF2 protein, human; D012333:RNA, Messenger; D007335:Insulin-Like Growth Factor II