Hereditary leiomyomatosis and renal cell cancer
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Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumours containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
Descrição
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumours containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same colour as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful.
Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population.
Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. People with HLRCC are commonly diagnosed with kidney cancer in their forties.
This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Hereditary leiomyomatosis and renal cell carcinoma
HLRCC
Leiomyomatosis and renal cell cancer
LRCC
MCL
MCUL
Multiple cutaneous and uterine leiomyomata
Multiple cutaneous leiomyoma
Reed's syndrome
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Leitura adicional e referências
- Hereditary leiomyomatosis and renal cell cancer; MedlinePlus, National Library of Medicine.
- Adamane S, Desai S, Menon S. Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. Indian J Pathol Microbiol. 2017 Jan-Mar;60(1):108-110. doi: 10.4103/0377-4929.200025.
- Adams A, Sharpe KK, Peters P, Freeman M. Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. BMJ Case Rep. 2017 Apr 11;2017:bcr2016215115. doi: 10.1136/bcr-2016-215115.
- Arenas Valencia C, Rodriguez Lopez ML, Cardona Barreto AY, Garavito Rodriguez E, Arteaga Diaz CE. Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family. Fam Cancer. 2017 Jan;16(1):117-122. doi: 10.1007/s10689-016-9922-4.
- Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomaki K, Tomlinson I, Richard S, Linehan WM. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment. Fam Cancer. 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2.
- Patel VM, Handler MZ, Schwartz RA, Lambert WC. Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. J Am Acad Dermatol. 2017 Jul;77(1):149-158. doi: 10.1016/j.jaad.2017.01.023. Epub 2017 Mar 14.
- Schmidt LS, Linehan WM. Hereditary leiomyomatosis and renal cell carcinoma. Int J Nephrol Renovasc Dis. 2014 Jun 20;7:253-60. doi: 10.2147/IJNRD.S42097. eCollection 2014.
- Teh J, Kinnear N, Douglass-Molloy H, Hennessey DB. Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. BMJ Case Rep. 2017 Jan 25;2017:bcr2016218270. doi: 10.1136/bcr-2016-218270.
- Vocke CD, Ricketts CJ, Merino MJ, Srinivasan R, Metwalli AR, Middelton LA, Peterson J, Yang Y, Linehan WM. Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. Genes Chromosomes Cancer. 2017 Jun;56(6):484-492. doi: 10.1002/gcc.22452. Epub 2017 Mar 31.
- Wong MH, Tan CS, Lee SC, Yong Y, Ooi AS, Ngeow J, Tan MH. Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC). Fam Cancer. 2014 Jun;13(2):281-9. doi: 10.1007/s10689-014-9703-x.
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