Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant condition, which manifests as cutaneous leiomyomas (CL), uterine fibroids and renal cell cancer (RCC). We describe the case of a 53-year-old woman who presented with multiple CL with a novel heterozygous canonical splice site mutation in intron 9 of the fumarate hydratase (FH) gene IVS 9-1 G>C (NM_000143.3:c 1391-1 G>C) that was not detected on initial screening of a mutation hotspot but was picked up on sequencing the remaining exons and splice site junctions. This report highlights the importance of clinical suspicion in the diagnosis of HLRCC in the absence of a family or personal history of cancer and despite initial genetic testing being negative
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal ce...
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in ...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characteri...
Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a syndrome predisposing to cutaneous and ...
Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal do...
A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later ...
The hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is defined by germline mutat...
In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susce...
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorde...
BACKGROUND: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare conditi...
International audienceBackground Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autos...
9 páginas, 2 figuras, 2 tablas.Germline mutations in the fumarate hydratase gene (FH) predispose to ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal ce...
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in ...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characteri...
Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a syndrome predisposing to cutaneous and ...
Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal do...
A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later ...
The hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is defined by germline mutat...
In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susce...
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorde...
BACKGROUND: Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare conditi...
International audienceBackground Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autos...
9 páginas, 2 figuras, 2 tablas.Germline mutations in the fumarate hydratase gene (FH) predispose to ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine ...
Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal ce...