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Hereditary leiomyomatosis and renal cell cancer(HLRCC)

MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
Synonyms: Cutaneous leiomyomata with uterine leiomyomata; HLRCC; Leiomyoma, hereditary multiple, of skin; Leiomyoma, multiple cutaneous; Multiple cutaneous and uterine leiomyomata; MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; Multiple cutaneous and uterine leiomyomatosis; Reed syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM®: 150800; 605839

Disease characteristics

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is characterized by cutaneous leiomyomata (multiple or single in 76% of affected individuals), uterine leiomyomata (fibroids), and/or a single renal tumor. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 25 years, increasing in size and number with age. Uterine leiomyomata are present in almost all females with HLRCC and tend to be numerous and large; age at diagnosis ranges from 18 to 52 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors causing hematuria, lower back pain, and a palpable mass are usually unilateral, solitary, and aggressive and range from type 2 papillary to tubulo-papillary to collecting-duct carcinomas. They occur in about 10%-16% of individuals with HLRCC; the median age of detection is 44 years. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Manop Pithukpakorn  |  Jorge R Toro   view full author information

Additional descriptions

From OMIM
Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011). For a general discussion of papillary renal cell carcinoma, see RCCP1 (605074).  http://www.omim.org/entry/150800
From GHR
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors 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 color 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. The average age at which people with HLRCC are diagnosed with kidney cancer is 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).  http://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer

Clinical features

Uterine leiomyoma
MedGen UID:
504355
Concept ID:
CN000127
Finding
The presence of a leiomyoma of the uterus.
Uterine leiomyosarcoma
MedGen UID:
505392
Concept ID:
CN002614
Finding
The presence of a leiomyosarcoma of the uterus.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Cutaneous leiomyosarcoma
MedGen UID:
505971
Concept ID:
CN005881
Finding
The presence of leiomyosarcoma of the skin.
Multiple cutaneous leiomyomas
MedGen UID:
506071
Concept ID:
CN006516
Finding
The presence of multiple leiomyomas of the skin.
Cutaneous leiomyoma
MedGen UID:
506093
Concept ID:
CN006679
Finding
The presence of leiomyoma of the skin.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Uterine neoplasm
MedGen UID:
426773
Concept ID:
CN009610
Finding
A tumor (abnormal growth of tissue) of the uterus.
Vaginal neoplasm
MedGen UID:
451935
Concept ID:
CN117542
Finding
A tumor (abnormal growth of tissue) of the vagina.
Esophageal neoplasm
MedGen UID:
451997
Concept ID:
CN117641
Finding
A tumor (abnormal growth of tissue) of the esophagus.
Uterine leiomyoma
MedGen UID:
504355
Concept ID:
CN000127
Finding
The presence of a leiomyoma of the uterus.
Uterine leiomyosarcoma
MedGen UID:
505392
Concept ID:
CN002614
Finding
The presence of a leiomyosarcoma of the uterus.
Renal cell carcinoma
MedGen UID:
505836
Concept ID:
CN004944
Finding
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Uterine neoplasm
MedGen UID:
426773
Concept ID:
CN009610
Finding
A tumor (abnormal growth of tissue) of the uterus.
Vaginal neoplasm
MedGen UID:
451935
Concept ID:
CN117542
Finding
A tumor (abnormal growth of tissue) of the vagina.
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Esophageal neoplasm
MedGen UID:
451997
Concept ID:
CN117641
Finding
A tumor (abnormal growth of tissue) of the esophagus.
Pruritus
MedGen UID:
504677
Concept ID:
CN000926
Finding
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Cutaneous leiomyosarcoma
MedGen UID:
505971
Concept ID:
CN005881
Finding
The presence of leiomyosarcoma of the skin.
Multiple cutaneous leiomyomas
MedGen UID:
506071
Concept ID:
CN006516
Finding
The presence of multiple leiomyomas of the skin.
Cutaneous leiomyoma
MedGen UID:
506093
Concept ID:
CN006679
Finding
The presence of leiomyoma of the skin.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Decreased fumarate hydratase activity
MedGen UID:
343007
Concept ID:
C1853903
Finding
Abnormality of the musculature
MedGen UID:
425119
Concept ID:
CN002722
Finding
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGHereditary leiomyomatosis and renal cell cancer

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article

Recent clinical studies

Etiology

Raymond VM, Herron CM, Giordano TJ, Gruber SB
Fam Cancer 2012 Mar;11(1):115-21. doi: 10.1007/s10689-011-9485-3. PMID: 22127509
van Spaendonck-Zwarts KY, Badeloe S, Oosting SF, Hovenga S, Semmelink HJ, van Moorselaar RJ, van Waesberghe JH, Mensenkamp AR, Menko FH
Fam Cancer 2012 Mar;11(1):123-9. doi: 10.1007/s10689-011-9491-5. PMID: 22086304Free PMC Article
Lehtonen HJ
Fam Cancer 2011 Jun;10(2):397-411. doi: 10.1007/s10689-011-9428-z. PMID: 21404119
Stewart L, Glenn GM, Stratton P, Goldstein AM, Merino MJ, Tucker MA, Linehan WM, Toro JR
Arch Dermatol 2008 Dec;144(12):1584-92. doi: 10.1001/archdermatol.2008.517. PMID: 19075141Free PMC Article
Grubb RL 3rd, Franks ME, Toro J, Middelton L, Choyke L, Fowler S, Torres-Cabala C, Glenn GM, Choyke P, Merino MJ, Zbar B, Pinto PA, Srinivasan R, Coleman JA, Linehan WM
J Urol 2007 Jun;177(6):2074-9; discussion 2079-80. doi: 10.1016/j.juro.2007.01.155. PMID: 17509289

Diagnosis

Kamai T, Tomosugi N, Abe H, Kaji Y, Oyama T, Yoshida K
Int J Mol Sci 2012 Nov 8;13(11):14518-32. doi: 10.3390/ijms131114518. PMID: 23203078Free PMC Article
Raymond VM, Herron CM, Giordano TJ, Gruber SB
Fam Cancer 2012 Mar;11(1):115-21. doi: 10.1007/s10689-011-9485-3. PMID: 22127509
van Spaendonck-Zwarts KY, Badeloe S, Oosting SF, Hovenga S, Semmelink HJ, van Moorselaar RJ, van Waesberghe JH, Mensenkamp AR, Menko FH
Fam Cancer 2012 Mar;11(1):123-9. doi: 10.1007/s10689-011-9491-5. PMID: 22086304Free PMC Article
Lehtonen HJ
Fam Cancer 2011 Jun;10(2):397-411. doi: 10.1007/s10689-011-9428-z. PMID: 21404119
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH
Clin Genet 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x. PMID: 20618355

Therapy

Aissani B, Wiener H, Zhang K
PLoS One 2013;8(3):e58399. Epub 2013 Mar 14 doi: 10.1371/journal.pone.0058399. PMID: 23555580Free PMC Article
Yamasaki T, Tran TA, Oz OK, Raj GV, Schwarz RE, Deberardinis RJ, Zhang X, Brugarolas J
Nat Rev Urol 2011 Mar;8(3):165-71. Epub 2011 Feb 8 doi: 10.1038/nrurol.2010.234. [Epub ahead of print] PMID: 21304509Free PMC Article
Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R
Fam Cancer 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. PMID: 20091131
Xie H, Valera VA, Merino MJ, Amato AM, Signoretti S, Linehan WM, Sukhatme VP, Seth P
Mol Cancer Ther 2009 Mar;8(3):626-35. Epub 2009 Mar 10 doi: 10.1158/1535-7163.MCT-08-1049. [Epub ahead of print] PMID: 19276158Free PMC Article
Hodge JC, Morton CC
Hum Mol Genet 2007 Apr 15;16 Spec No 1:R7-13. doi: 10.1093/hmg/ddm043. PMID: 17613550

Prognosis

Kuwada M, Chihara Y, Lou Y, Torimoto K, Kagebayashi Y, Tamura K, Shuin T, Fujimoto K, Kuniyasu H, Samma S
BMC Res Notes 2014 Mar 31;7:203. doi: 10.1186/1756-0500-7-203. [Epub ahead of print] PMID: 24684806Free PMC Article
Raymond VM, Herron CM, Giordano TJ, Gruber SB
Fam Cancer 2012 Mar;11(1):115-21. doi: 10.1007/s10689-011-9485-3. PMID: 22127509
van Spaendonck-Zwarts KY, Badeloe S, Oosting SF, Hovenga S, Semmelink HJ, van Moorselaar RJ, van Waesberghe JH, Mensenkamp AR, Menko FH
Fam Cancer 2012 Mar;11(1):123-9. doi: 10.1007/s10689-011-9491-5. PMID: 22086304Free PMC Article
Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network
J Med Genet 2011 Apr;48(4):226-34. Epub 2011 Mar 12 doi: 10.1136/jmg.2010.085068. [Epub ahead of print] PMID: 21398687
Grubb RL 3rd, Franks ME, Toro J, Middelton L, Choyke L, Fowler S, Torres-Cabala C, Glenn GM, Choyke P, Merino MJ, Zbar B, Pinto PA, Srinivasan R, Coleman JA, Linehan WM
J Urol 2007 Jun;177(6):2074-9; discussion 2079-80. doi: 10.1016/j.juro.2007.01.155. PMID: 17509289

Clinical prediction guides

Kuwada M, Chihara Y, Lou Y, Torimoto K, Kagebayashi Y, Tamura K, Shuin T, Fujimoto K, Kuniyasu H, Samma S
BMC Res Notes 2014 Mar 31;7:203. doi: 10.1186/1756-0500-7-203. [Epub ahead of print] PMID: 24684806Free PMC Article
Ternette N, Yang M, Laroyia M, Kitagawa M, O'Flaherty L, Wolhulter K, Igarashi K, Saito K, Kato K, Fischer R, Berquand A, Kessler BM, Lappin T, Frizzell N, Soga T, Adam J, Pollard PJ
Cell Rep 2013 Mar 28;3(3):689-700. Epub 2013 Mar 14 doi: 10.1016/j.celrep.2013.02.013. [Epub ahead of print] PMID: 23499446Free PMC Article
Lehtonen HJ
Fam Cancer 2011 Jun;10(2):397-411. doi: 10.1007/s10689-011-9428-z. PMID: 21404119
Grubb RL 3rd, Franks ME, Toro J, Middelton L, Choyke L, Fowler S, Torres-Cabala C, Glenn GM, Choyke P, Merino MJ, Zbar B, Pinto PA, Srinivasan R, Coleman JA, Linehan WM
J Urol 2007 Jun;177(6):2074-9; discussion 2079-80. doi: 10.1016/j.juro.2007.01.155. PMID: 17509289
Kiuru M, Lehtonen R, Arola J, Salovaara R, Järvinen H, Aittomäki K, Sjöberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA
Cancer Res 2002 Aug 15;62(16):4554-7. PMID: 12183404

Recent systematic reviews

Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R
Fam Cancer 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. PMID: 20091131

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