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Titolo:
Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomassuggests different genetic mechanisms for pathogenesis of TSC lesions
Autore:
Niida, Y; Stemmer-Rachamimov, AO; Logrip, M; Tapon, D; Perez, R; Kwiatkowski, DJ; Sims, K; MacCollin, M; Louis, DN; Ramesh, V;
Indirizzi:
Massachusetts Gen Hosp, Dept Neurol, Charlestown, MA USA Massachusetts GenHosp Charlestown MA USA pt Neurol, Charlestown, MA USA Massachusetts Gen Hosp, Mol Neurooncol Lab, Charlestown, MA USA Massachusetts Gen Hosp Charlestown MA USA oncol Lab, Charlestown, MA USA Massachusetts Gen Hosp, Mol Neurogenet Unit, Charlestown, MA USA Massachusetts Gen Hosp Charlestown MA USA enet Unit, Charlestown, MA USA Kanazawa Univ, Fac Med, Sch Med, Dept Pediat, Kanazawa, Ishikawa 920, Japan Kanazawa Univ Kanazawa Ishikawa Japan 920 , Kanazawa, Ishikawa 920, Japan Brigham & Womens Hosp, Div Hematol, Genet Lab, Boston, MA 02115 USA Brigham & Womens Hosp Boston MA USA 02115 Genet Lab, Boston, MA 02115 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 69, anno: 2001,
pagine: 493 - 503
SICI:
0002-9297(200109)69:3<493:SOSMIT>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-CHROMOSOME INACTIVATION; ALLELIC LOSS; EKER RAT; GERMLINE MUTATIONS; UNRELATED PATIENTS; GROWTH SUPPRESSOR; TUMOR SUPPRESSION; PRODUCT TUBERIN; HUMAN BRAIN; KIDNEY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Ramesh, V Bldg 149,13th St, Charlestown, MA 02129 USA Bldg 149,13th St Charlestown MA USA 02129 lestown, MA 02129 USA
Citazione:
Y. Niida et al., "Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomassuggests different genetic mechanisms for pathogenesis of TSC lesions", AM J HU GEN, 69(3), 2001, pp. 493-503

Abstract

Tuberous sclerosis complex (TSC), an autosomal dominant disease caused by mutations in either TSC1 or TSC2, is characterized by the development of hamartomas in a variety of organs. Concordant with the tumor-suppressor model, loss of heterozygosity (LOH) is known to occur in these hamartomas at loci of both TSC1 and TSC2. LOH has been documented in renal angiomyolipomas (AMLs), but loss of the wild-type allele in cortical tubers appears to be very uncommon. Analysis of second, somatic events in tumors for which the status of both TSC1 and TSC2 is known is essential for exploration of the pathogenesis of TSC-lesion development. We analyzed 24 hamartomas from 10 patients for second-hit mutations, by several methods, including LOH, scanning of all exons of both TSC1 and TSC2, promoter methylation of TSC2, and clonality analysis. Our results document loss of the wild-type allele in six of seven AMLs, without evidence of the inactivation of the second allele in many of the other lesions, including tumors that appear to be clonally derived. Laser-capture microdissection further demonstrated loss of the second allele in all three cellular components of an AML. This study thus provides evidence that, in both TSC1 and TSC2, somatic mutations resulting in the lossof wild-type alleles may not be necessary in some tumor types-and that other mechanisms may contribute to tumorigenesis in this setting.

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Documento generato il 05/12/20 alle ore 01:35:43