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

doi:10.1016/j.jpedsurg.2008.12.010

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 journal › Article › peer-review

13 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 language	English
Pages (from-to)	e31-e35
Journal	Journal of Pediatric Surgery
Volume	44
Issue number	3
DOIs	https://doi.org/10.1016/j.jpedsurg.2008.12.010
Publication status	Published - Mar 1 2009
Externally published	Yes

Keywords

Alveolar rhabdomyosarcoma
Beckwith-Wiedemann syndrome
Blueberry muffin baby

ASJC Scopus subject areas

Surgery
Pediatrics, Perinatology, and Child Health

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Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome. / Kuroiwa, Minoru; Sakamoto, Jun; Shimada, Akira; Suzuki, Norio; Hirato, Junko; Park, Myoung Ja; Sotomatsu, Manabu; Hayashi, Yasuhide.

In: Journal of Pediatric Surgery, Vol. 44, No. 3, 01.03.2009, p. e31-e35.

Research output: Contribution to journal › Article › peer-review

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