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Rhabdoid Tumor Predisposition Syndrome
Known as:
Familial Posterior Fossa Brain Tumor Syndrome of Infancy
, Rhabdoid Predisposition Syndrome
A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical…
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National Institutes of Health
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Related topics
Related topics
8 relations
AT/RT
Choroid Plexus Carcinoma
Extrarenal Rhabdoid Tumor
Medulloblastoma
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma
Ladan Fazlollahi
,
S. Hsiao
,
Manpreet Kochhar
,
M. Mansukhani
,
D. Yamashiro
,
H. Remotti
Cancers
2019
Corpus ID: 209356917
The clinical management of pediatric liver tumors involves stratification into risk groups. One previously defined, high-risk…
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Review
2017
Review
2017
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome
H. Salvador
,
Vivian Y. Chang
,
+19 authors
P. Keegan
Clinical Cancer Research
2017
Corpus ID: 4073888
Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased…
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Highly Cited
2017
Highly Cited
2017
Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development
Jeremie Vitte
,
Fuying Gao
,
G. Coppola
,
A. Judkins
,
M. Giovannini
Nature Communications
2017
Corpus ID: 4694675
Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes: rhabdoid tumor predisposition syndrome, with…
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2017
2017
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor
A. Tauziède-Espariat
,
J. Masliah-Planchon
,
+11 authors
F. Bourdeaut
European Journal of Human Genetics
2017
Corpus ID: 4881073
About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis…
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Review
2013
Review
2013
Update on pediatric cancer predisposition syndromes
J. Schiffman
,
J. Geller
,
Erin Mundt
,
A. Means
,
Lindsey Means
,
V. Means
Pediatric Blood & Cancer
2013
Corpus ID: 18036801
Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology…
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Review
2007
Review
2007
hSNF5/INI1‐deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities
F. Bourdeaut
,
P. Fréneaux
,
+12 authors
Olivier Delattre
Journal of Pathology
2007
Corpus ID: 26180699
Rhabdoid tumours (RTs) are rare but highly aggressive tumours of childhood. Their rarity and their miscellaneous locations make…
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Highly Cited
2006
Highly Cited
2006
Non‐linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome
M. Frühwald
,
M. Hasselblatt
,
+7 authors
J. Vormoor
Pediatric Blood & Cancer
2006
Corpus ID: 27454521
Rhabdoid tumors represent an independent entity among embryonal neoplasms. These tumors affect the kidney (RTK, rhabdoid tumor of…
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Review
2003
Review
2003
Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification
H. Fujisawa
,
Y. Takabatake
,
T. Fukusato
,
O. Tachibana
,
Y. Tsuchiya
,
J. Yamashita
Journal of Neuro-Oncology
2003
Corpus ID: 11090282
The authors report a case of the rhabdoid predisposition syndrome (RPS) secondary to a germline hSNF5/INI1 mutation, whose brain…
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2002
2002
Rhabdoid Tumor of the Kidney Is a Component of the Rhabdoid Predisposition Syndrome
Hwei Yee Lee
,
Chui-Sheun Yoon
,
N. Sevenet
,
V. Rajalingam
,
O. Delattre
,
N. Walford
Pediatric and Developmental Pathology
2002
Corpus ID: 31653327
The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline…
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Highly Cited
1999
Highly Cited
1999
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.
N. Sevenet
,
E. Sheridan
,
D. Amram
,
P. Schneider
,
R. Handgretinger
,
O. Delattre
American Journal of Human Genetics
1999
Corpus ID: 20420483
Biallelic, truncating mutations of the hSNF5/INI1 gene have recently been documented in malignant rhabdoid tumor (MRT), one of…
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