title: Synchronous Hepatoblastoma, Neuroblastoma, and Cutaneous Capillary Hemangiomas: A Case Report.
abstract: Multiple synchronous tumors presenting in infancy raise concern for inherited or sporadic cancer predisposition syndromes, which include Beckwith-Wiedemann syndrome, familial adenomatous polyposis syndrome, and Li-Fraumeni syndrome. We report a case of a 7-month-old previously healthy male born following an in vitro fertilization-assisted twin pregnancy who presented with new-onset refractory shock, severe acidosis, and rapid decline over several hours. An autopsy revealed a ruptured liver involved by hepatoblastoma, an adrenal gland involved by neuroblastoma, and multiple cutaneous capillary hemangiomas. Standard genetic testing demonstrated that both twins were Gaucher disease (GD) carriers without evidence of other known cancer predisposition syndromes. This report describes a unique association of multiple synchronous tumors, which underscores the utility and importance of the pediatric autopsy. Moreover, given that the reported child was a GD carrier, the possibility the tumors were the result of a GD-mediated cancer-associated phenotype or an unrecognized sporadic clinical syndrome remains an unanswered, but intriguing, question worthy of further investigation.
authors.affiliation: 1 Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Michael G
authors.initials: MG
authors.lastname: Ozawa
authors.affiliation: 2 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Tabitha
authors.initials: T
authors.lastname: Cooney
authors.affiliation: 2 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Arun
authors.initials: A
authors.lastname: Rangaswami
authors.affiliation: 1 Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.|2 Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Florette K
authors.initials: FK
authors.lastname: Hazard
mesh_terms: D000328:Adult; D001344:Autopsy; D014408:Biomarkers, Tumor / Q000032:analysis; D002423:Cause of Death; D017809:Fatal Outcome; D005260:Female; D005307:Fertilization in Vitro; D005776:Gaucher Disease / Q000235:genetics; D006580:Genetic Carrier Screening; D018324:Hemangioma, Capillary / Q000737:chemistry / Q000473:pathology*; D018197:Hepatoblastoma / Q000737:chemistry / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008113:Liver Neoplasms / Q000737:chemistry / Q000473:pathology*; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000737:chemistry / Q000473:pathology*; D009447:Neuroblastoma / Q000737:chemistry / Q000473:pathology*; D011247:Pregnancy; D059285:Pregnancy, Twin; D012878:Skin Neoplasms / Q000737:chemistry / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor
keywords: Beckwith-Wiedemann syndrome; congenital tumors; hemangioma; hepatoblastoma; neuroblastoma; prematurity