Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1.
Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.
Department of Pathology, Oregon Health and Science University, Portland, OR 97239, USA. Laueran@ohsu.edu
Andrea L
AL
Chakrapani
Clifton R
CR
White
Veselina
V
Korcheva
Kevin
K
White
Sabra
S
Lofgren
Jonathan
J
Zonana
Stephen
S
Moore
Alfons
A
Krol
Atiya
A
Mansoor
D001706:Biopsy; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics / Q000502:physiology*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003131:Combined Modality Therapy; D015897:Comorbidity; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D004062:DiGeorge Syndrome / Q000453:epidemiology / Q000503:physiopathology*; D004358:Drug Therapy; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007223:Infant; D011878:Radiotherapy; D018335:Rhabdoid Tumor / Q000151:congenital* / Q000453:epidemiology / Q000503:physiopathology*; D000071796:SMARCB1 Protein; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000151:congenital* / Q000453:epidemiology / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*; D016896:Treatment Outcome
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors