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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
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 150800
HPO: HP:0007437
Orphanet: ORPHA523

Definition

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 GTR]

Additional descriptions

From GeneReviews
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.  https://www.ncbi.nlm.nih.gov/books/NBK1252
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).  https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer

Clinical features

Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
Cutaneous leiomyoma
MedGen UID:
87533
Concept ID:
C0346064
Neoplastic Process
A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Cutaneous leiomyosarcoma
MedGen UID:
87534
Concept ID:
C0346067
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.
Hereditary leiomyomatosis and renal cell cancer
MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
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.
Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
Decreased fumarate hydratase activity
MedGen UID:
343007
Concept ID:
C1853903
Finding
An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
Cutaneous leiomyoma
MedGen UID:
87533
Concept ID:
C0346064
Neoplastic Process
A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
Cutaneous leiomyosarcoma
MedGen UID:
87534
Concept ID:
C0346067
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.
Hereditary leiomyomatosis and renal cell cancer
MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
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.

Term Hierarchy

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

Conditions with this feature

Hereditary leiomyomatosis and renal cell cancer
MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
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.

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. 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

Adams A, Sharpe KK, Peters P, Freeman M
BMJ Case Rep 2017 Apr 11;2017 doi: 10.1136/bcr-2016-215115. PMID: 28400389
Teh J, Kinnear N, Douglass-Molloy H, Hennessey DB
BMJ Case Rep 2017 Jan 25;2017 doi: 10.1136/bcr-2016-218270. PMID: 28122802
Llamas-Velasco M, Requena L, Adam J, Frizzell N, Hartmann A, Mentzel T
Am J Dermatopathol 2016 Dec;38(12):887-891. doi: 10.1097/DAD.0000000000000580. PMID: 27097334
Kamai T, Abe H, Arai K, Murakami S, Sakamoto S, Kaji Y, Yoshida KI
BMC Cancer 2016 Mar 17;16:232. doi: 10.1186/s12885-016-2272-7. PMID: 26983443Free PMC Article
Wheeler KC, Warr DJ, Warsetsky SI, Barmat LI
Fertil Steril 2016 Jan;105(1):144-8. Epub 2015 Oct 19 doi: 10.1016/j.fertnstert.2015.09.034. PMID: 26493120

Diagnosis

Patel VM, Handler MZ, Schwartz RA, Lambert WC
J Am Acad Dermatol 2017 Jul;77(1):149-158. Epub 2017 Mar 14 doi: 10.1016/j.jaad.2017.01.023. PMID: 28314682
Teh J, Kinnear N, Douglass-Molloy H, Hennessey DB
BMJ Case Rep 2017 Jan 25;2017 doi: 10.1136/bcr-2016-218270. PMID: 28122802
Llamas-Velasco M, Requena L, Adam J, Frizzell N, Hartmann A, Mentzel T
Am J Dermatopathol 2016 Dec;38(12):887-891. doi: 10.1097/DAD.0000000000000580. PMID: 27097334
Kamai T, Abe H, Arai K, Murakami S, Sakamoto S, Kaji Y, Yoshida KI
BMC Cancer 2016 Mar 17;16:232. doi: 10.1186/s12885-016-2272-7. PMID: 26983443Free PMC Article
Wheeler KC, Warr DJ, Warsetsky SI, Barmat LI
Fertil Steril 2016 Jan;105(1):144-8. Epub 2015 Oct 19 doi: 10.1016/j.fertnstert.2015.09.034. PMID: 26493120

Therapy

Yaldiz M, Metin M, Erdem MT, Dikicier BS, Kahyaoglu Z
Dermatol Online J 2015 Sep 17;21(9) PMID: 26437289
Fernández-Crehuet P, Ruiz-Villaverde R
Mayo Clin Proc 2015 Mar;90(3):423-4. doi: 10.1016/j.mayocp.2014.07.022. PMID: 25744129
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM
Fam Cancer 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2. PMID: 25012257Free PMC Article
Wong MH, Tan CS, Lee SC, Yong Y, Ooi AS, Ngeow J, Tan MH
Fam Cancer 2014 Jun;13(2):281-9. doi: 10.1007/s10689-014-9703-x. PMID: 24526232
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. PMID: 19276158Free PMC Article

Prognosis

Adamane S, Desai S, Menon S
Indian J Pathol Microbiol 2017 Jan-Mar;60(1):108-110. doi: 10.4103/0377-4929.200025. PMID: 28195105
Llamas-Velasco M, Requena L, Adam J, Frizzell N, Hartmann A, Mentzel T
Am J Dermatopathol 2016 Dec;38(12):887-891. doi: 10.1097/DAD.0000000000000580. PMID: 27097334
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM
Fam Cancer 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2. PMID: 25012257Free 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. 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

Llamas-Velasco M, Requena L, Adam J, Frizzell N, Hartmann A, Mentzel T
Am J Dermatopathol 2016 Dec;38(12):887-891. doi: 10.1097/DAD.0000000000000580. PMID: 27097334
Menko FH, Maher ER, Schmidt LS, Middelton LA, Aittomäki K, Tomlinson I, Richard S, Linehan WM
Fam Cancer 2014 Dec;13(4):637-44. doi: 10.1007/s10689-014-9735-2. PMID: 25012257Free 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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