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Uterine leiomyoma(UL)

MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Synonyms: UL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
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).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Source: HPO
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
SNOMED CT: Uterine leiomyoma (95315005); Leiomyoma, no ICD-O subtype (44598004); Leiomyoma of uterus (95315005); Leiomyoma, no International Classification of Diseases for Oncology subtype (44598004); Uterine fibroid (95315005); Uterine fibroids (95315005); Uterine leiomyoma - fibroids (95315005); Fibroids (95315005); Leiomyoma of body of uterus (95315005); Fibroid uterus (95315005); Leiomyoma (44598004); Fibroid uterus (44598004); Fibromyoma (44598004); Leiomyofibroma (44598004); Fibroleiomyoma (44598004); Uterine fibroids (44598004)
 
Gene (location): HMGA2 (12q14.3)
OMIM®: 150699
HPO: HP:0000131

Definition

Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include. -Heavy or painful periods or bleeding between periods . -Feeling full in the lower abdomen . -Urinating often . -Pain during sex . -Lower back pain . -Reproductive problems, such as infertility, multiple miscarriages or early labor. Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

Clinical features

Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include. -Heavy or painful periods or bleeding between periods . -Feeling full in the lower abdomen . -Urinating often . -Pain during sex . -Lower back pain . -Reproductive problems, such as infertility, multiple miscarriages or early labor. Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development.
Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include. -Heavy or painful periods or bleeding between periods . -Feeling full in the lower abdomen . -Urinating often . -Pain during sex . -Lower back pain . -Reproductive problems, such as infertility, multiple miscarriages or early labor. Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development.

Conditions with this feature

Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include. -Heavy or painful periods or bleeding between periods . -Feeling full in the lower abdomen . -Urinating often . -Pain during sex . -Lower back pain . -Reproductive problems, such as infertility, multiple miscarriages or early labor. Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development.
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.
Cowden syndrome 2
MedGen UID:
765466
Concept ID:
C3552552
Disease or Syndrome
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.
Cowden syndrome 3
MedGen UID:
767430
Concept ID:
C3554516
Disease or Syndrome

Recent clinical studies

Etiology

Cărăuleanu A, Socolov R, Lupaşcu IA, Rugină V, Socolov D
Rev Med Chir Soc Med Nat Iasi 2016 Jan-Mar;120(1):145-51. PMID: 27125088
Commandeur AE, Styer AK, Teixeira JM
Hum Reprod Update 2015 Sep-Oct;21(5):593-615. Epub 2015 Jul 3 doi: 10.1093/humupd/dmv030. [Epub ahead of print] PMID: 26141720Free PMC Article
Sousa WB, Garcia JB, Nogueira Neto J, Furtado PG, Anjos JA
Eur J Obstet Gynecol Reprod Biol 2015 Jul;190:71-5. Epub 2015 May 8 doi: 10.1016/j.ejogrb.2015.04.012. [Epub ahead of print] PMID: 25996518
Aksoy Y, Sivri N, Karaoz B, Sayin C, Yetkin E
Eur J Obstet Gynecol Reprod Biol 2014 Apr;175:54-7. Epub 2014 Jan 10 doi: 10.1016/j.ejogrb.2014.01.005. [Epub ahead of print] PMID: 24480112
Shen Y, Xu Q, Xu J, Ren ML, Cai YL
Eur Rev Med Pharmacol Sci 2013 Dec;17(23):3249-56. PMID: 24338469

Diagnosis

Cărăuleanu A, Socolov R, Lupaşcu IA, Rugină V, Socolov D
Rev Med Chir Soc Med Nat Iasi 2016 Jan-Mar;120(1):145-51. PMID: 27125088
Tsigkou A, Reis FM, Lee MH, Jiang B, Tosti C, Centini G, Shen FR, Chen YG, Petraglia F
Fertil Steril 2015 Jul;104(1):170-5.e1. Epub 2015 May 23 doi: 10.1016/j.fertnstert.2015.04.024. [Epub ahead of print] PMID: 26006736
Al Hadidi S, Shaik Mohammed T, Bachuwa G
BMJ Case Rep 2015 Apr 9;2015 doi: 10.1136/bcr-2014-208995. PMID: 25858937
Aksoy Y, Sivri N, Karaoz B, Sayin C, Yetkin E
Eur J Obstet Gynecol Reprod Biol 2014 Apr;175:54-7. Epub 2014 Jan 10 doi: 10.1016/j.ejogrb.2014.01.005. [Epub ahead of print] PMID: 24480112
Shen Y, Xu Q, Xu J, Ren ML, Cai YL
Eur Rev Med Pharmacol Sci 2013 Dec;17(23):3249-56. PMID: 24338469

Therapy

Sousa WB, Garcia JB, Nogueira Neto J, Furtado PG, Anjos JA
Eur J Obstet Gynecol Reprod Biol 2015 Jul;190:71-5. Epub 2015 May 8 doi: 10.1016/j.ejogrb.2015.04.012. [Epub ahead of print] PMID: 25996518
Jiang W, Shen Q, Chen M, Wang Y, Zhou Q, Zhu X, Zhu X
Steroids 2014 Aug;86:69-78. Epub 2014 May 14 doi: 10.1016/j.steroids.2014.05.002. [Epub ahead of print] PMID: 24832215
Lee HG, Baek JW, Shin SJ, Kwon SH, Cha SD, Park WJ, Chung R, Choi ES, Lee GH, Cho CH
Reprod Sci 2014 Sep;21(9):1153-60. Epub 2014 Feb 25 doi: 10.1177/1933719114525266. [Epub ahead of print] PMID: 24572052Free PMC Article
Shen Y, Xu Q, Xu J, Ren ML, Cai YL
Eur Rev Med Pharmacol Sci 2013 Dec;17(23):3249-56. PMID: 24338469
Zhou F, Zhang L, Liu A, Shen Y, Yuan J, Yu X, Feng X, Xu Q, Cheng C
J Chromatogr B Analyt Technol Biomed Life Sci 2013 Nov 1;938:80-5. Epub 2013 Sep 5 doi: 10.1016/j.jchromb.2013.08.032. [Epub ahead of print] PMID: 24060595

Prognosis

Chanthasenanont A, Nantakomon T, Kintarak J, Vithisuvanakul N, Pongrojpaw D, Suwannarurk K
J Med Assoc Thai 2015 Apr;98 Suppl 3:S126-31. PMID: 26387400
Abdollahi A
Ann Afr Med 2015 Jan-Mar;14(1):57-61. doi: 10.4103/1596-3519.148743. PMID: 25567697
Di Tommaso S, Tinelli A, Malvasi A, Massari S
Mol Hum Reprod 2014 Oct;20(10):1009-15. Epub 2014 Jul 11 doi: 10.1093/molehr/gau055. [Epub ahead of print] PMID: 25015674
Tropeano G, Amoroso S, Di Stasi C, Di Bidino R, Monterisi A, Petrillo M, Scambia G
Hum Reprod 2014 Sep;29(9):1918-24. Epub 2014 Jul 8 doi: 10.1093/humrep/deu166. [Epub ahead of print] PMID: 25006204
Csatlós E, Rigó J, Laky M, Brubel R, Joó GJ
Eur J Obstet Gynecol Reprod Biol 2013 Oct;170(2):492-6. Epub 2013 Jul 25 doi: 10.1016/j.ejogrb.2013.07.007. [Epub ahead of print] PMID: 23891545

Clinical prediction guides

Tsigkou A, Reis FM, Lee MH, Jiang B, Tosti C, Centini G, Shen FR, Chen YG, Petraglia F
Fertil Steril 2015 Jul;104(1):170-5.e1. Epub 2015 May 23 doi: 10.1016/j.fertnstert.2015.04.024. [Epub ahead of print] PMID: 26006736
Sousa WB, Garcia JB, Nogueira Neto J, Furtado PG, Anjos JA
Eur J Obstet Gynecol Reprod Biol 2015 Jul;190:71-5. Epub 2015 May 8 doi: 10.1016/j.ejogrb.2015.04.012. [Epub ahead of print] PMID: 25996518
Asano R, Asai-Sato M, Miyagi Y, Mizushima T, Koyama-Sato M, Nagashima Y, Taguri M, Sakakibara H, Hirahara F, Miyagi E
Am J Obstet Gynecol 2015 Aug;213(2):199.e1-8. Epub 2015 Feb 25 doi: 10.1016/j.ajog.2015.02.016. [Epub ahead of print] PMID: 25724399
Jiang W, Shen Q, Chen M, Wang Y, Zhou Q, Zhu X, Zhu X
Steroids 2014 Aug;86:69-78. Epub 2014 May 14 doi: 10.1016/j.steroids.2014.05.002. [Epub ahead of print] PMID: 24832215
Lee HG, Baek JW, Shin SJ, Kwon SH, Cha SD, Park WJ, Chung R, Choi ES, Lee GH, Cho CH
Reprod Sci 2014 Sep;21(9):1153-60. Epub 2014 Feb 25 doi: 10.1177/1933719114525266. [Epub ahead of print] PMID: 24572052Free PMC Article

Recent systematic reviews

Commandeur AE, Styer AK, Teixeira JM
Hum Reprod Update 2015 Sep-Oct;21(5):593-615. Epub 2015 Jul 3 doi: 10.1093/humupd/dmv030. [Epub ahead of print] PMID: 26141720Free PMC Article
Moroni RM, Vieira CS, Ferriani RA, Reis RM, Nogueira AA, Brito LG
BMC Womens Health 2015 Jan 22;15:4. doi: 10.1186/s12905-015-0162-9. [Epub ahead of print] PMID: 25609056Free PMC Article
Shen Q, Chen M, Wang Y, Zhou Q, Tao X, Zhang W, Zhu X
J Minim Invasive Gynecol 2015 Feb;22(2):177-84. Epub 2014 Sep 28 doi: 10.1016/j.jmig.2014.09.007. [Epub ahead of print] PMID: 25265886
Jiang W, Shen Q, Chen M, Wang Y, Zhou Q, Zhu X, Zhu X
Steroids 2014 Aug;86:69-78. Epub 2014 May 14 doi: 10.1016/j.steroids.2014.05.002. [Epub ahead of print] PMID: 24832215
Feng Y, Zhao X, Zhou C, Yang L, Liu Y, Bian C, Gou J, Lin X, Wang Z, Zhao X
Gene 2013 Oct 25;529(2):296-9. Epub 2013 Aug 9 doi: 10.1016/j.gene.2013.07.019. [Epub ahead of print] PMID: 23939469

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