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
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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 -