Congenital Disseminated Extrarenal Malignant Rhabdoid Tumor.
Identifieur interne : 002910 ( PubMed/Curation ); précédent : 002909; suivant : 002911Congenital Disseminated Extrarenal Malignant Rhabdoid Tumor.
Auteurs : Sabah Boudjemaa [France] ; Arnaud Petit [France] ; Linda Dainese [France] ; Franck Bourdeaut [France] ; Jill Lipsett [Australie] ; Aurore Coulomb [France]Source :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [ 1093-5266 ]
Descripteurs français
- KwdFr :
- Cuisse (anatomopathologie), Facteurs de transcription (génétique), Femelle, Humains, Issue fatale, Nouveau-né, Protéine SMARCB1, Protéines chromosomiques nonhistones (génétique), Protéines de liaison à l'ADN (génétique), Tumeur rhabdoïde (), Tumeur rhabdoïde (anatomopathologie), Tumeur rhabdoïde (génétique), Tumeurs des tissus mous (), Tumeurs des tissus mous (anatomopathologie), Tumeurs des tissus mous (génétique).
- MESH :
- anatomopathologie : Cuisse, Tumeur rhabdoïde, Tumeurs des tissus mous.
- génétique : Facteurs de transcription, Protéines chromosomiques nonhistones, Protéines de liaison à l'ADN, Tumeur rhabdoïde, Tumeurs des tissus mous.
- Femelle, Humains, Issue fatale, Nouveau-né, Protéine SMARCB1, Tumeur rhabdoïde, Tumeurs des tissus mous.
English descriptors
- KwdEn :
- Chromosomal Proteins, Non-Histone (genetics), DNA-Binding Proteins (genetics), Fatal Outcome, Female, Humans, Infant, Newborn, Rhabdoid Tumor (congenital), Rhabdoid Tumor (genetics), Rhabdoid Tumor (pathology), SMARCB1 Protein, Soft Tissue Neoplasms (congenital), Soft Tissue Neoplasms (genetics), Soft Tissue Neoplasms (pathology), Thigh (pathology), Transcription Factors (genetics).
- MESH :
- chemical , genetics : Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Transcription Factors.
- congenital : Rhabdoid Tumor, Soft Tissue Neoplasms.
- genetics : Rhabdoid Tumor, Soft Tissue Neoplasms.
- pathology : Rhabdoid Tumor, Soft Tissue Neoplasms, Thigh.
- Fatal Outcome, Female, Humans, Infant, Newborn, SMARCB1 Protein.
Abstract
Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor. We report a case occurring in a female neonate who presented at birth a voluminous left thigh mass. Surgical biopsy performed at day 9 showed morphology and immunoprofile of MRT. Staging evaluation identified hypercalcemia and distant nodules. The mass showed rapid growth. Despite chemotherapy, the tumor progressed with exteriorization through the biopsy scar. Chemotherapy was discontinued and treatment limited to palliative care and the child died on day 51. The tumor was homozygous for the SMARCB1 deletion with apparent de novo heterozygous germ line deletion in the infant, not identified in the parents.
DOI: 10.2350/14-07-1533-CR.1
PubMed: 25751458
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pubmed:25751458Le document en format XML
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<front><div type="abstract" xml:lang="en">Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor. We report a case occurring in a female neonate who presented at birth a voluminous left thigh mass. Surgical biopsy performed at day 9 showed morphology and immunoprofile of MRT. Staging evaluation identified hypercalcemia and distant nodules. The mass showed rapid growth. Despite chemotherapy, the tumor progressed with exteriorization through the biopsy scar. Chemotherapy was discontinued and treatment limited to palliative care and the child died on day 51. The tumor was homozygous for the SMARCB1 deletion with apparent de novo heterozygous germ line deletion in the infant, not identified in the parents.</div>
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<Abstract><AbstractText>Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor. We report a case occurring in a female neonate who presented at birth a voluminous left thigh mass. Surgical biopsy performed at day 9 showed morphology and immunoprofile of MRT. Staging evaluation identified hypercalcemia and distant nodules. The mass showed rapid growth. Despite chemotherapy, the tumor progressed with exteriorization through the biopsy scar. Chemotherapy was discontinued and treatment limited to palliative care and the child died on day 51. The tumor was homozygous for the SMARCB1 deletion with apparent de novo heterozygous germ line deletion in the infant, not identified in the parents.</AbstractText>
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