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

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

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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 11 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.
Original languageEnglish
Pages (from-to)544-551
JournalGenes, Chromosomes and Cancer
Volume48
Issue number7
DOIs
Publication statusPublished - 2009
MoE publication typeA1 Journal article-refereed

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Comparative Genomic Hybridization
Renal Cell Carcinoma
DNA
Neoplasms
Kidney
Fumarate Hydratase
Leiomyomatosis
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 2
Germ-Line Mutation
Hereditary leiomyomatosis and renal cell cancer
Skin
Genes

Cite this

Koski, Taru A. ; Lehtonen, Heli J. ; Jee, Kowan J. ; Ninomiya, Shinsuke ; Joosse, Simon A. ; Vahteristo, Pia ; Kiuru, Maija ; Karhu, Auli ; Sammalkorpi, Heli ; Vanharanta, Sakari ; Lehtonen, Rainer ; Edgren, Henrik ; 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. In: Genes, Chromosomes and Cancer. 2009 ; Vol. 48, No. 7. pp. 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 11 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.",
author = "Koski, {Taru A.} and Lehtonen, {Heli J.} and Jee, {Kowan J.} 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 Henrik Edgren 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 and Cancer",
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Koski, TA, Lehtonen, HJ, Jee, KJ, Ninomiya, S, Joosse, SA, Vahteristo, P, Kiuru, M, Karhu, A, Sammalkorpi, H, Vanharanta, S, Lehtonen, R, Edgren, H, Nederlof, PM, Hietala, M, Aittomäki, K, Herva, R, Knuutila, S, Aaltonen, LA & Launonen, V 2009, 'Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer', Genes, Chromosomes and Cancer, vol. 48, no. 7, pp. 544-551. https://doi.org/10.1002/gcc.20663

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 A.; Lehtonen, Heli J.; Jee, Kowan J.; Ninomiya, Shinsuke; Joosse, Simon A.; Vahteristo, Pia; Kiuru, Maija; Karhu, Auli; Sammalkorpi, Heli; Vanharanta, Sakari; Lehtonen, Rainer; Edgren, Henrik; Nederlof, Petra M.; Hietala, Marja; Aittomäki, Kristiina; Herva, Riitta; Knuutila, Sakari; Aaltonen, Lauri A.; Launonen, Virpi (Corresponding Author).

In: Genes, Chromosomes and Cancer, Vol. 48, No. 7, 2009, p. 544-551.

Research output: Contribution to journalArticleScientificpeer-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 A.

AU - Lehtonen, Heli J.

AU - Jee, Kowan J.

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, Henrik

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 11 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.

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 11 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.

U2 - 10.1002/gcc.20663

DO - 10.1002/gcc.20663

M3 - Article

VL - 48

SP - 544

EP - 551

JO - Genes, Chromosomes and Cancer

JF - Genes, Chromosomes and Cancer

SN - 1045-2257

IS - 7

ER -