title: Inv(11)(p13p15) and myf-3(MyoD1) in a malignant extrarenal rhabdoid tumor of a premature newborn.
abstract: We present a premature newborn of 32 wk of gestation with a congenital malignant extrarenal rhabdoid tumor (MERT) on the right shoulder with generalized metastases. Standard histologic, immunohistochemical, molecular and cytogenetic methods were used in the evaluation of diagnostic material. Biopsy of a skin lesion showed the histologic features of a malignant rhabdoid tumor. Cytogenetic analysis of the tumor cells revealed an inv(11)(p13p15) and additionally, an increased expression of myf-3 (myogenic determination factor, MyoD1) and PAX3 was detected. These results suggest an origin of the neoplasm derived from a pluripotent cell with the potential of myogenic differentiation. Tumor suppressor genes located on chromosome 11p13 and 11p15 may play an important role for malignant rhabdoid tumor development and progression.
authors.affiliation: Division of Hematology/Oncology, University Children's Hospital Basel, Römergasse 8, 4005 Basel, Switzerland.
authors.forename: F
authors.initials: F
authors.lastname: Staehelin
authors.forename: H
authors.initials: H
authors.lastname: Bissig
authors.forename: I
authors.initials: I
authors.lastname: Hösli
authors.forename: D R
authors.initials: DR
authors.lastname: Betts
authors.forename: B W
authors.initials: BW
authors.lastname: Schäfer
authors.forename: F A
authors.initials: FA
authors.lastname: Scholl
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: T
authors.initials: T
authors.lastname: Kühne
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005865:Gestational Age; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007234:Infant, Premature; D008854:Microscopy, Electron; D018396:Mucin-1 / Q000032:analysis; D017570:MyoD Protein / Q000235:genetics*; D009362:Neoplasm Metastasis; D010751:Phosphopyruvate Hydratase / Q000032:analysis; D011247:Pregnancy; D018335:Rhabdoid Tumor / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D012782:Shoulder; D016216:Ultrasonography, Prenatal; D014746:Vimentin / Q000032:analysis
chemical_list: D018396:Mucin-1; D017570:MyoD Protein; C057363:MyoD1 myogenic differentiation protein; D014746:Vimentin; D010751:Phosphopyruvate Hydratase