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

16 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 2009
Externally published	Yes

Keywords

Alveolar rhabdomyosarcoma
Beckwith-Wiedemann syndrome
Blueberry muffin baby

ASJC Scopus subject areas

Surgery
Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/j.jpedsurg.2008.12.010

Cite this

@article{79e4b3433dd24d4089645f1df1aaea4c,

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.",

keywords = "Alveolar rhabdomyosarcoma, Beckwith-Wiedemann syndrome, Blueberry muffin baby",

author = "Minoru Kuroiwa and Jun Sakamoto and Akira Shimada and Norio Suzuki and Junko Hirato and Park, {Myoung Ja} and Manabu Sotomatsu and Yasuhide Hayashi",

year = "2009",

month = mar,

doi = "10.1016/j.jpedsurg.2008.12.010",

language = "English",

volume = "44",

pages = "e31--e35",

journal = "Journal of Pediatric Surgery",

issn = "0022-3468",

publisher = "W.B. Saunders Ltd",

number = "3",

}

TY - JOUR

T1 - Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome

AU - Kuroiwa, Minoru

AU - Sakamoto, Jun

AU - Shimada, Akira

AU - Suzuki, Norio

AU - Hirato, Junko

AU - Park, Myoung Ja

AU - Sotomatsu, Manabu

AU - Hayashi, Yasuhide

PY - 2009/3

Y1 - 2009/3

N2 - 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.

AB - 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.

KW - Alveolar rhabdomyosarcoma

KW - Beckwith-Wiedemann syndrome

KW - Blueberry muffin baby

UR - http://www.scopus.com/inward/record.url?scp=62149134213&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=62149134213&partnerID=8YFLogxK

U2 - 10.1016/j.jpedsurg.2008.12.010

DO - 10.1016/j.jpedsurg.2008.12.010

M3 - Article

C2 - 19302842

AN - SCOPUS:62149134213

VL - 44

SP - e31-e35

JO - Journal of Pediatric Surgery

JF - Journal of Pediatric Surgery

SN - 0022-3468

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this