title: Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome.
abstract: We report a rare case of neonatal Beckwith-Wiedemann syndrome (BWS) associated with alveolar rhabdomyosarcoma (RMS). Alveolar RMS was diagnosed on the basis of excisional biopsy. Chemotherapy was initiated and followed by bone marrow transplantation. The patient, who is now 3 years and 11 months of age, is alive 46 months after the initial diagnosis, albeit with disease. We could not detect the PAX3-FKHR or PAX7-FKHR transcripts; however, we could observe hypomethylation of the differentially methylated region of the long QT intronic transcript 1. Thus, neonatal alveolar RMS with BWS may result from an alternate molecular pathway.
authors.affiliation: Department of Surgery, Gunma Children's Medical Center, Shibukawa, Gunma 377-8577, Japan.
authors.forename: Minoru
authors.initials: M
authors.lastname: Kuroiwa
authors.forename: Jun
authors.initials: J
authors.lastname: Sakamoto
authors.forename: Akira
authors.initials: A
authors.lastname: Shimada
authors.forename: Norio
authors.initials: N
authors.lastname: Suzuki
authors.forename: Junko
authors.initials: J
authors.lastname: Hirato
authors.forename: Myoung-Ja
authors.initials: MJ
authors.lastname: Park
authors.forename: Manabu
authors.initials: M
authors.lastname: Sotomatsu
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
mesh_terms: D000972:Antineoplastic Agents, Phytogenic / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications*; D016026:Bone Marrow Transplantation; D002166:Camptothecin / Q000031:analogs & derivatives / Q000627:therapeutic use; D003520:Cyclophosphamide / Q000627:therapeutic use; D003609:Dactinomycin / Q000627:therapeutic use; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D000077146:Irinotecan; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D018232:Rhabdomyosarcoma, Alveolar / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D014158:Transcription, Genetic; D014750:Vincristine / Q000627:therapeutic use
chemical_list: D000972:Antineoplastic Agents, Phytogenic; C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated; D003609:Dactinomycin; D014750:Vincristine; D000077146:Irinotecan; D003520:Cyclophosphamide; D002166:Camptothecin