title: Diagnostic utility of cyclin D1 in the diagnosis of small round blue cell tumors in children and adolescents.
abstract: Small round blue cell tumors (SRBCTs) of children and adolescents are often diagnostically challenging lesions. With the increasing diagnostic approach based on small biopsies, there is the need of specific immunomarkers that can help in the differential diagnosis among the different tumor histotypes to assure the patient a correct diagnosis for proper treatment. Based on our recent studies showing cyclin D1 overexpression in both Ewing sarcoma/primitive peripheral neuroectodermal tumor (EWS/pPNET) and peripheral neuroblastic tumors (neuroblastoma and ganglioneuroblastoma), we immunohistochemically assessed cyclin D1 immunoreactivity in 128 cases of SRBCTs in children and adolescents to establish its potential utility in the differential diagnosis. All cases of EWS/pPNET and the undifferentiated/poorly differentiated neuroblastomatous component of all peripheral neuroblastic tumors exhibited strong and diffuse nuclear staining (>50% of neoplastic cells) for cyclin D1. In contrast, this marker was absent from rhabdomyosarcoma (regardless of subtype) and lymphoblastic lymphoma (either B- or T-cell precursors), whereas it was only focally detected (<5% of neoplastic cells) in some cases of Wilms tumor (blastemal component) and desmoplastic small round cell tumor. Our findings suggest that cyclin D1 can be exploitable as a diagnostic adjunct to conventional markers in confirming the diagnosis of EWS/pPNET or neuroblastoma/ganglioneuroblastoma. Its use in routine practice may also be helpful for those cases of SRBCT with undifferentiated morphology that are difficult to diagnose after application of the conventional markers.
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies, GF Ingrassia, Azienda Ospedaliero-Universitaria "Policlinico-Vittorio Emanuele," Anatomic Pathology Section, School of Medicine, University of Catania, 95123 Catania, Italy. Electronic address: g.magro@unict.it.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Magro
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies, GF Ingrassia, Azienda Ospedaliero-Universitaria "Policlinico-Vittorio Emanuele," Anatomic Pathology Section, School of Medicine, University of Catania, 95123 Catania, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Salvatorelli
authors.affiliation: Department of Medicine-DIMED, Pathology Unit, University of Padova, 35124 Padua, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Alaggio
authors.affiliation: Department of Biomedical and Biotechnological Sciences, Section of Human Anatomy and Histology, University of Catania, 95123 Catania, Italy.
authors.forename: Velia
authors.initials: V
authors.lastname: D'Agata
authors.affiliation: Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Nicoletti
authors.affiliation: Pediatric Hematology and Oncology Unit, Department of Pediatrics, University of Catania, 95123 Catania, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Di Cataldo
authors.affiliation: Physiology Section, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Parenti
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis*; D001706:Biopsy; D001859:Bone Neoplasms / Q000737:chemistry* / Q000473:pathology; D002454:Cell Differentiation; D002648:Child; D002675:Child, Preschool; D019938:Cyclin D1 / Q000032:analysis*; D058405:Desmoplastic Small Round Cell Tumor / Q000737:chemistry / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D018305:Ganglioneuroblastoma / Q000737:chemistry* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007680:Kidney Neoplasms / Q000737:chemistry / Q000473:pathology; D008297:Male; D009447:Neuroblastoma / Q000737:chemistry* / Q000473:pathology; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000737:chemistry* / Q000473:pathology; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000378:metabolism / Q000473:pathology; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D012208:Rhabdomyosarcoma / Q000737:chemistry / Q000473:pathology; D012512:Sarcoma, Ewing / Q000737:chemistry* / Q000473:pathology; D009396:Wilms Tumor / Q000737:chemistry / Q000473:pathology; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C530104:CCND1 protein, human; D019938:Cyclin D1
keywords: Adolescents; Children; Cyclin D1; Immunohistochemistry; Small round blue cell tumors