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Volumn 38, Issue 5, 2014, Pages 627-637

Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: Recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry

Author keywords

2SC; fumarate hydratase; HLRCC; immunohistochemistry; renal cancer; succination

Indexed keywords

FUMARATE HYDRATASE;

EID: 84899118868     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000163     Document Type: Article
Times cited : (215)

References (29)
  • 2
    • 18544365990 scopus 로고    scopus 로고
    • Germline mutations inFH predispose to dominantly inherited uterine fibroids, skinleiomyomata and papillary renal cell cancer
    • Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations inFH predispose to dominantly inherited uterine fibroids, skinleiomyomata and papillary renal cell cancer. Nat Genet.2002;30:406-410.
    • (2002) Nat Genet , vol.30 , pp. 406-410
    • Tomlinson, I.P.1    Alam, N.A.2    Rowan, A.J.3
  • 6
    • 79953703400 scopus 로고    scopus 로고
    • Novel FHmutations in families with hereditary leiomyomatosis and renal cellcancer (HLRCC) and patients with isolated type 2 papillary renalcell carcinoma
    • Gardie B, Remenieras A, Kattygnarath D, et al. Novel FHmutations in families with hereditary leiomyomatosis and renal cellcancer (HLRCC) and patients with isolated type 2 papillary renalcell carcinoma. J Med Genet. 2011;48:226-234.
    • (2011) J Med Genet. , vol.48 , pp. 226-234
    • Gardie, B.1    Remenieras, A.2    Kattygnarath, D.3
  • 7
    • 34748836454 scopus 로고    scopus 로고
    • The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome
    • DOI 10.1097/PAS.0b013e31804375b8, PII 0000047820071000000016
    • Merino MJ, Torres-Cabala C, Pinto P, et al. The morphologicspectrum of kidney tumors in hereditary leiomyomatosis and renalcell carcinoma (HLRCC) syndrome. Am J Surg Pathol. 2007;31:1578-1585. (Pubitemid 47482473)
    • (2007) American Journal of Surgical Pathology , vol.31 , Issue.10 , pp. 1578-1585
    • Merino, M.J.1    Torres-Cabala, C.2    Pinto, P.3    Marston Linehan, W.4
  • 11
    • 79960916285 scopus 로고    scopus 로고
    • Aberrant succinationof proteins in fumarate hydratase-deficient mice and HLRCCpatients is a robust biomarker of mutation status
    • Bardella C, El-Bahrawy M, Frizzell N, et al. Aberrant succinationof proteins in fumarate hydratase-deficient mice and HLRCCpatients is a robust biomarker of mutation status. J Pathol. 2011;225:4-11.
    • (2011) J Pathol. , vol.225 , pp. 4-11
    • Bardella, C.1    El-Bahrawy, M.2    Frizzell, N.3
  • 13
    • 0030788677 scopus 로고    scopus 로고
    • Papillary renal cell carcinoma: A clinicopathologic and immunohistochemical study of 105 tumors
    • Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologicand immunohistochemical study of 105 tumors. Mod Pathol.1997;10:537-544. (Pubitemid 27293491)
    • (1997) Modern Pathology , vol.10 , Issue.6 , pp. 537-544
    • Delahunt, B.1    Eble, J.N.2
  • 15
    • 84867333656 scopus 로고    scopus 로고
    • Genome sequencingidentifies a basis for everolimus sensitivity
    • Iyer G, Hanrahan AJ, Milowsky MI, et al. Genome sequencingidentifies a basis for everolimus sensitivity. Science. 2012;338:221.
    • (2012) Science , vol.338 , pp. 221
    • Iyer, G.1    Hanrahan, A.J.2    Milowsky, M.I.3
  • 16
    • 84886812425 scopus 로고    scopus 로고
    • Detecting somatic geneticalterations in tumor specimens by exon capture and massivelyparallel sequencing
    • Won HH, Scott SN, Brannon AR, et al. Detecting somatic geneticalterations in tumor specimens by exon capture and massivelyparallel sequencing. J Vis Exp. 2013;80:e50710.
    • (2013) J Vis Exp. , vol.80
    • Won, H.H.1    Scott, S.N.2    Brannon, A.R.3
  • 17
    • 84874025843 scopus 로고    scopus 로고
    • Sensitive detection ofsomatic point mutations in impure and heterogeneous cancersamples
    • Cibulskis K, Lawrence MS, Carter SL, et al. Sensitive detection ofsomatic point mutations in impure and heterogeneous cancersamples. Nat Biotechnol. 2013;31:213-219.
    • (2013) Nat Biotechnol , vol.31 , pp. 213-219
    • Cibulskis, K.1    Lawrence, M.S.2    Carter, S.L.3
  • 18
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variationdiscovery and genotyping using next-generation DNA sequencingdata
    • DePristo MA, Banks E, Poplin R, et al. A framework for variationdiscovery and genotyping using next-generation DNA sequencingdata. Nat Genet. 2011;43:491-498.
    • (2011) Nat Genet. , vol.43 , pp. 491-498
    • Depristo, M.A.1    Banks, E.2    Poplin, R.3
  • 20
    • 79961059884 scopus 로고    scopus 로고
    • Morphologic features ofuterine leiomyomas associated with hereditary leiomyomatosis andrenal cell carcinoma syndrome: A case report
    • Garg K, Tickoo SK, Soslow RA, et al. Morphologic features ofuterine leiomyomas associated with hereditary leiomyomatosis andrenal cell carcinoma syndrome: a case report. Am J Surg Pathol.2011;35:1235-1237.
    • (2011) Am J Surg Pathol , vol.35 , pp. 1235-1237
    • Garg, K.1    Tickoo, S.K.2    Soslow, R.A.3
  • 21
    • 79958108040 scopus 로고    scopus 로고
    • Hereditary leiomyomatosis and renal cell cancer: Updateon clinical and molecular characteristics
    • Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: updateon clinical and molecular characteristics. Fam Cancer. 2011;10:397-411.
    • (2011) Fam Cancer. , vol.10 , pp. 397-411
    • Lehtonen, H.J.1
  • 22
    • 84900390656 scopus 로고    scopus 로고
    • The International Society ofUrological Pathology (ISUP) Vancouver Classification of RenalNeoplasia
    • Srigley JR, Delahunt B, Eble JN, et al. The International Society ofUrological Pathology (ISUP) Vancouver Classification of RenalNeoplasia. Am J Surg Pathol. 2013;37:1469-1489.
    • (2013) Am J Surg Pathol. , vol.37 , pp. 1469-1489
    • Srigley, J.R.1    Delahunt, B.2    Eble, J.N.3
  • 23
    • 73349126119 scopus 로고    scopus 로고
    • Renal tubulocystic carcinoma isclosely related to papillary renal cell carcinoma: Implications forpathologic classification
    • Zhou M, Yang XJ, Lopez JI, et al. Renal tubulocystic carcinoma isclosely related to papillary renal cell carcinoma: implications forpathologic classification. Am J Surg Pathol. 2009;33:1840-1849.
    • (2009) Am J Surg Pathol , vol.33 , pp. 1840-1849
    • Zhou, M.1    Yang, X.J.2    Lopez, J.I.3
  • 24
    • 79957527132 scopus 로고    scopus 로고
    • Tubulocystic renal carcinoma: Aclinical perspective
    • Hora M, Urge T, Eret V, et al. Tubulocystic renal carcinoma: aclinical perspective. World J Urol. 2011;29:349-354.
    • (2011) World J Urol. , vol.29 , pp. 349-354
    • Hora, M.1    Urge, T.2    Eret, V.3
  • 25
    • 79952982226 scopus 로고    scopus 로고
    • Tubulocystic carcinoma ofkidney associated with papillary renal cell carcinoma
    • Deshmukh M, Shet T, Bakshi G, et al. Tubulocystic carcinoma ofkidney associated with papillary renal cell carcinoma. Indian JPathol Microbiol. 2011;54:127-130.
    • (2011) Indian JPathol Microbiol. , vol.54 , pp. 127-130
    • Deshmukh, M.1    Shet, T.2    Bakshi, G.3
  • 26
    • 84879230839 scopus 로고    scopus 로고
    • Tubulocystic carcinoma ofthe kidney with poorly differentiated foci: A series of 3 cases withfluorescence in situ hybridization analysis
    • Al-Hussain TO, Cheng L, Zhang S, et al. Tubulocystic carcinoma ofthe kidney with poorly differentiated foci: a series of 3 cases withfluorescence in situ hybridization analysis. Hum Pathol. 2013;44:1406-1411.
    • (2013) Hum Pathol. , vol.44 , pp. 1406-1411
    • Al-Hussain, T.O.1    Cheng, L.2    Zhang, S.3
  • 27
    • 62849114818 scopus 로고    scopus 로고
    • Tubulocystic carcinomaof the kidney: Clinicopathologic analysis of 31 cases of a distinctiverare subtype of renal cell carcinoma
    • Amin MB, MacLennan GT, Gupta R, et al. Tubulocystic carcinomaof the kidney: clinicopathologic analysis of 31 cases of a distinctiverare subtype of renal cell carcinoma. Am J Surg Pathol. 2009;33:384-392.
    • (2009) Am J Surg Pathol , vol.33 , pp. 384-392
    • Amin, M.B.1    MacLennan, G.T.2    Gupta, R.3
  • 28
    • 67449088342 scopus 로고    scopus 로고
    • Array comparative genomichybridization identifies a distinct DNA copy number profile in renalcell cancer associated with hereditary leiomyomatosis and renal cellcancer
    • Koski TA, Lehtonen HJ, Jee KJ, et al. Array comparative genomichybridization identifies a distinct DNA copy number profile in renalcell cancer associated with hereditary leiomyomatosis and renal cellcancer. Genes Chromosomes Cancer. 2009;48:544-551.
    • (2009) Genes Chromosomes Cancer , vol.48 , pp. 544-551
    • Koski, T.A.1    Lehtonen, H.J.2    Jee, K.J.3
  • 29
    • 84875805425 scopus 로고    scopus 로고
    • Inhibition of mitochondrialaconitase by succination in fumarate hydratase deficiency
    • Ternette N, Yang M, Laroyia M, et al. Inhibition of mitochondrialaconitase by succination in fumarate hydratase deficiency. Cell Rep.2013;3:689-700.
    • (2013) Cell Rep. , vol.3 , pp. 689-700
    • Ternette, N.1    Yang, M.2    Laroyia, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.