Congenital Disseminated Extrarenal Malignant Rhabdoid Tumor. 2015

Sabah Boudjemaa, and Arnaud Petit, and Linda Dainese, and Franck Bourdeaut, and Jill Lipsett, and Aurore Coulomb
1 Service d'Anatomie et de Cytologie Pathologiques, Hôpital d'Enfants Armand Trousseau, 26 Avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France, and Université Pierre et Marie Curie, Paris 6, France.

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.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D002868 Chromosomal Proteins, Non-Histone Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens. Non-Histone Chromosomal Proteins,Chromosomal Proteins, Non Histone,Chromosomal Proteins, Nonhistone,Non-Histone Chromosomal Phosphoproteins,Chromosomal Phosphoproteins, Non-Histone,Non Histone Chromosomal Phosphoproteins,Non Histone Chromosomal Proteins,Nonhistone Chromosomal Proteins,Proteins, Non-Histone Chromosomal
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071796 SMARCB1 Protein A component of the SWI-SNF CHROMATIN REMODELING complex that functions as a PROTEIN PHOSPHATASE 1 regulator and to stabilize CHROMATIN at PROMOTER REGIONS. It is important for regulating CELL PROLIFERATION and CELL DIFFERENTIATION. Mutations in the SMARCB1 gene are associated with malignant RHABDOID TUMORS. BAF47 Protein,BRG1-Associated Factor 47 Protein,Integrase Interactor 1 Protein,SNF5 Homolog Protein,Swi-Snf-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin Subfamily B Member 1,BRG1 Associated Factor 47 Protein,Swi Snf Related Matrix Associated Actin Dependent Regulator Of Chromatin Subfamily B Member 1
D012983 Soft Tissue Neoplasms Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc. Neoplasm, Soft Tissue,Neoplasms, Soft Tissue,Soft Tissue Neoplasm
D013848 Thigh The superior part of the lower extremity between the HIP and the KNEE. Thighs
D014157 Transcription Factors Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. Transcription Factor,Factor, Transcription,Factors, Transcription
D017809 Fatal Outcome Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. Fatal Outcomes,Outcome, Fatal,Outcomes, Fatal

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