Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Taru Annukka Koski, Heli J Lehtonen, Kowan Ja Jee, Shinsuke Ninomiya, Simon A Joosse, Pia Vahteristo, Maija Kiuru, Auli Karhu, Heli Sammalkorpi, Sakari Vanharanta, Rainer Lehtonen, Sten Henrik Torstensson Edgren, Petra M Nederlof, Marja Hietala, Kristiina Aittomäki, Riitta Herva, Sakari Knuutila, Lauri A Aaltonen, Virpi Launonen

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Sammanfattning

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All I I investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. (C) 2009 Wiley-Liss, Inc.
Originalspråkengelska
TidskriftGenes, Chromosomes & Cancer
Volym48
Utgåva7
Sidor (från-till)544-551
Antal sidor8
ISSN1045-2257
DOI
StatusPublicerad - 2009
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 311 Basmedicin

Citera det här

Koski, Taru Annukka ; Lehtonen, Heli J ; Jee, Kowan Ja ; Ninomiya, Shinsuke ; Joosse, Simon A ; Vahteristo, Pia ; Kiuru, Maija ; Karhu, Auli ; Sammalkorpi, Heli ; Vanharanta, Sakari ; Lehtonen, Rainer ; Edgren, Sten Henrik Torstensson ; Nederlof, Petra M ; Hietala, Marja ; Aittomäki, Kristiina ; Herva, Riitta ; Knuutila, Sakari ; Aaltonen, Lauri A ; Launonen, Virpi. / Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. I: Genes, Chromosomes & Cancer. 2009 ; Vol. 48, Nr. 7. s. 544-551.
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title = "Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer",
abstract = "Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All I I investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27{\%}) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. (C) 2009 Wiley-Liss, Inc.",
keywords = "311 Basic medicine",
author = "Koski, {Taru Annukka} and Lehtonen, {Heli J} and Jee, {Kowan Ja} and Shinsuke Ninomiya and Joosse, {Simon A} and Pia Vahteristo and Maija Kiuru and Auli Karhu and Heli Sammalkorpi and Sakari Vanharanta and Rainer Lehtonen and Edgren, {Sten Henrik Torstensson} and Nederlof, {Petra M} and Marja Hietala and Kristiina Aittom{\"a}ki and Riitta Herva and Sakari Knuutila and Aaltonen, {Lauri A} and Virpi Launonen",
year = "2009",
doi = "10.1002/gcc.20663",
language = "English",
volume = "48",
pages = "544--551",
journal = "Genes, Chromosomes & Cancer",
issn = "1045-2257",
publisher = "Wiley",
number = "7",

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Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer. / Koski, Taru Annukka; Lehtonen, Heli J; Jee, Kowan Ja; Ninomiya, Shinsuke; Joosse, Simon A; Vahteristo, Pia; Kiuru, Maija; Karhu, Auli; Sammalkorpi, Heli; Vanharanta, Sakari; Lehtonen, Rainer; Edgren, Sten Henrik Torstensson; Nederlof, Petra M; Hietala, Marja; Aittomäki, Kristiina; Herva, Riitta; Knuutila, Sakari; Aaltonen, Lauri A; Launonen, Virpi.

I: Genes, Chromosomes & Cancer, Vol. 48, Nr. 7, 2009, s. 544-551.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

AU - Koski, Taru Annukka

AU - Lehtonen, Heli J

AU - Jee, Kowan Ja

AU - Ninomiya, Shinsuke

AU - Joosse, Simon A

AU - Vahteristo, Pia

AU - Kiuru, Maija

AU - Karhu, Auli

AU - Sammalkorpi, Heli

AU - Vanharanta, Sakari

AU - Lehtonen, Rainer

AU - Edgren, Sten Henrik Torstensson

AU - Nederlof, Petra M

AU - Hietala, Marja

AU - Aittomäki, Kristiina

AU - Herva, Riitta

AU - Knuutila, Sakari

AU - Aaltonen, Lauri A

AU - Launonen, Virpi

PY - 2009

Y1 - 2009

N2 - Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All I I investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. (C) 2009 Wiley-Liss, Inc.

AB - Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC-associated RCCs. The study material comprised formalin-fixed paraffin-embedded renal tumors obtained from Finnish patients with HLRCC. All I I investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3-q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. (C) 2009 Wiley-Liss, Inc.

KW - 311 Basic medicine

U2 - 10.1002/gcc.20663

DO - 10.1002/gcc.20663

M3 - Article

VL - 48

SP - 544

EP - 551

JO - Genes, Chromosomes & Cancer

JF - Genes, Chromosomes & Cancer

SN - 1045-2257

IS - 7

ER -