Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome

Minoru Kuroiwa, Jun Sakamoto, Akira Shimada, Norio Suzuki, Junko Hirato, Myoung Ja Park, Manabu Sotomatsu, Yasuhide Hayashi

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)e31-e35
JournalJournal of Pediatric Surgery
Volume44
Issue number3
DOIs
Publication statusPublished - Mar 1 2009
Externally publishedYes

Keywords

  • Alveolar rhabdomyosarcoma
  • Beckwith-Wiedemann syndrome
  • Blueberry muffin baby

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

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