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 |
|---|---|
| Journal | Journal of Pediatric Surgery |
| Volume | 44 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Mar 2009 |
| Externally published | Yes |
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Keywords
- Alveolar rhabdomyosarcoma
- Beckwith-Wiedemann syndrome
- Blueberry muffin baby
ASJC Scopus subject areas
- Surgery
- Pediatrics, Perinatology, and Child Health
Cite this
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, 03.2009.Research output: Contribution to journal › Article
}
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
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
SN - 0022-3468
IS - 3
ER -