Abstract
Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition to benign leiomyomas of the skin and the uterus (fibroids, myomas). Susceptibility to early-onset renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. Renal cell carcinomas are typically solitary and aggressive tumors displaying papillary type 2 or collecting duct histology. The disease predisposing gene was identified as fumarate hydratase (fumarase, FH) (MIM 136850). FH encodes an enzyme that operates in the mitochondrial Krebs cycle being thus involved in cellular energy metabolism. The recent discovery of HLRCC and the predisposing gene FH has increased the present knowledge of hereditary renal cancer and enabled identification of the predisposed individuals. This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 869-875 |
| Number of pages | 7 |
| Journal | Current Molecular Medicine |
| Volume | 4 |
| Issue number | 8 |
| DOIs | |
| State | Published - Dec 2004 |
| Externally published | Yes |
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Keywords
- FH
- Fumarase
- HLRCC
- Leiomyoma
- Leiomyosarcoma
- Renal cancer
ASJC Scopus subject areas
- Biochemistry
- Molecular Medicine
- Molecular Biology
Cite this
Hereditary leiomyomatosis and renal cell cancer (HLRCC). / Kiuru, Maija Ht; Launonen, Virpi.
In: Current Molecular Medicine, Vol. 4, No. 8, 12.2004, p. 869-875.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Hereditary leiomyomatosis and renal cell cancer (HLRCC)
AU - Kiuru, Maija Ht
AU - Launonen, Virpi
PY - 2004/12
Y1 - 2004/12
N2 - Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition to benign leiomyomas of the skin and the uterus (fibroids, myomas). Susceptibility to early-onset renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. Renal cell carcinomas are typically solitary and aggressive tumors displaying papillary type 2 or collecting duct histology. The disease predisposing gene was identified as fumarate hydratase (fumarase, FH) (MIM 136850). FH encodes an enzyme that operates in the mitochondrial Krebs cycle being thus involved in cellular energy metabolism. The recent discovery of HLRCC and the predisposing gene FH has increased the present knowledge of hereditary renal cancer and enabled identification of the predisposed individuals. This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed.
AB - Hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839) is a recently identified autosomal dominant tumor susceptibility syndrome characterized by predisposition to benign leiomyomas of the skin and the uterus (fibroids, myomas). Susceptibility to early-onset renal cell carcinoma and uterine leiomyosarcoma is present in a subset of families. Renal cell carcinomas are typically solitary and aggressive tumors displaying papillary type 2 or collecting duct histology. The disease predisposing gene was identified as fumarate hydratase (fumarase, FH) (MIM 136850). FH encodes an enzyme that operates in the mitochondrial Krebs cycle being thus involved in cellular energy metabolism. The recent discovery of HLRCC and the predisposing gene FH has increased the present knowledge of hereditary renal cancer and enabled identification of the predisposed individuals. This review provides the present knowledge of the clinical, histopathological, and molecular features of HLRCC. Future prospects related to studies on the phenotype and molecular biology of HLRCC will also be discussed.
KW - FH
KW - Fumarase
KW - HLRCC
KW - Leiomyoma
KW - Leiomyosarcoma
KW - Renal cancer
UR - http://www.scopus.com/inward/record.url?scp=9744276042&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=9744276042&partnerID=8YFLogxK
U2 - 10.2174/1566524043359638
DO - 10.2174/1566524043359638
M3 - Review article
C2 - 15579034
AN - SCOPUS:9744276042
VL - 4
SP - 869
EP - 875
JO - Current Molecular Medicine
JF - Current Molecular Medicine
SN - 1566-5240
IS - 8
ER -