Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1

Andrea L. Chakrapani; Clifton White; Veselina Korcheva; Kevin White; Sabra Lofgren; Jonathan Zonana; Stephen Moore; Alfons Krol; Atiya Mansoor

doi:10.1097/DAD.0b013e31825793c3

Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1

Andrea L. Chakrapani, Clifton White, Veselina Korcheva, Kevin White, Sabra Lofgren, Jonathan Zonana, Stephen Moore, Alfons Krol, Atiya Mansoor

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	e77-e80
Journal	American Journal of Dermatopathology
Volume	34
Issue number	6
DOIs	https://doi.org/10.1097/DAD.0b013e31825793c3
State	Published - Aug 2012

Keywords

SMARCB1 gene
chromosome 22q11.2
rhabdoid tumor

ASJC Scopus subject areas

Pathology and Forensic Medicine
Dermatology

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10.1097/DAD.0b013e31825793c3

Cite this

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title = "Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1",

abstract = "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.",

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T1 - Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome

T2 - The importance of SMARCB1

AU - Chakrapani, Andrea L.

AU - White, Clifton

AU - Korcheva, Veselina

AU - White, Kevin

AU - Lofgren, Sabra

AU - Zonana, Jonathan

AU - Moore, Stephen

AU - Krol, Alfons

AU - Mansoor, Atiya

PY - 2012/8

Y1 - 2012/8

N2 - 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.

AB - 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.

KW - SMARCB1 gene

KW - chromosome 22q11.2

KW - rhabdoid tumor

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Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: The importance of SMARCB1

Abstract

Keywords

ASJC Scopus subject areas

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