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Uterine leiomyoma(UL)

MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Synonyms: Benign uterine leiomyomas; UL; Uterine fibroid
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.
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
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); Leiomyoma (146801000119103); 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); Fibroleiomyoma (44598004); Uterine fibroids (44598004)
 
Gene (location): HMGA2 (12q14.3)
OMIM®: 150699
HPO: HP:0000131

Definition

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. [from NCI]

Clinical features

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.

Conditions with this feature

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.
Multiple cutaneous leiomyomas
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

Hou R, Wang L, Li S, Rong F, Wang Y, Qin X, Wang S
Br J Radiol 2018 Feb;91(1082):20160950. Epub 2017 Nov 21 doi: 10.1259/bjr.20160950. PMID: 29091474
Shen TC, Hsia TC, Hsiao CL, Lin CL, Yang CY, Soh KS, Liu LC, Chang WS, Tsai CW, Bau DT
Oncotarget 2017 May 16;8(20):33014-33023. doi: 10.18632/oncotarget.16520. PMID: 28380432Free PMC Article
Jenabi E, Ebrahimzadeh Zagami S
J Matern Fetal Neonatal Med 2017 Nov;30(22):2742-2746. Epub 2016 Nov 29 doi: 10.1080/14767058.2016.1261401. PMID: 27844480
Kim YA, Kho Y, Chun KC, Koh JW, Park JW, Bunderson-Schelvan M, Cho YH
Int J Environ Res Public Health 2016 Dec 15;13(12) doi: 10.3390/ijerph13121247. PMID: 27983712Free 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. PMID: 25996518

Diagnosis

Shen TC, Hsia TC, Hsiao CL, Lin CL, Yang CY, Soh KS, Liu LC, Chang WS, Tsai CW, Bau DT
Oncotarget 2017 May 16;8(20):33014-33023. doi: 10.18632/oncotarget.16520. PMID: 28380432Free PMC Article
Ling J, Wu X, Fu Z, Tan J, Xu Q
Biomed Pharmacother 2015 Oct;75:226-33. Epub 2015 Aug 24 doi: 10.1016/j.biopha.2015.07.039. PMID: 26311392
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. 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
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. PMID: 24060595

Therapy

Jenabi E, Ebrahimzadeh Zagami S
J Matern Fetal Neonatal Med 2017 Nov;30(22):2742-2746. Epub 2016 Nov 29 doi: 10.1080/14767058.2016.1261401. PMID: 27844480
Liu QW, Han T, Yang M, Tong XW, Wang JJ
J Huazhong Univ Sci Technolog Med Sci 2016 Feb;36(1):142-9. Epub 2016 Feb 3 doi: 10.1007/s11596-016-1557-z. PMID: 26838756
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. PMID: 25996518
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. 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

Prognosis

Shen TC, Hsia TC, Hsiao CL, Lin CL, Yang CY, Soh KS, Liu LC, Chang WS, Tsai CW, Bau DT
Oncotarget 2017 May 16;8(20):33014-33023. doi: 10.18632/oncotarget.16520. PMID: 28380432Free PMC Article
Ling J, Wu X, Fu Z, Tan J, Xu Q
Biomed Pharmacother 2015 Oct;75:226-33. Epub 2015 Aug 24 doi: 10.1016/j.biopha.2015.07.039. PMID: 26311392
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. PMID: 23891545
Tropeano G, Di Stasi C, Amoroso S, Vizzielli G, Mascilini F, Scambia G
Obstet Gynecol 2012 Aug;120(2 Pt 1):269-76. doi: 10.1097/AOG.0b013e31825cb88e. PMID: 22825084
El-Shennawy GA, Elbialy AA, Isamil AE, El Behery MM
Arch Gynecol Obstet 2011 Jun;283(6):1313-8. Epub 2010 Jun 18 doi: 10.1007/s00404-010-1550-x. PMID: 20559649

Clinical prediction guides

Hou R, Wang L, Li S, Rong F, Wang Y, Qin X, Wang S
Br J Radiol 2018 Feb;91(1082):20160950. Epub 2017 Nov 21 doi: 10.1259/bjr.20160950. PMID: 29091474
Jenabi E, Ebrahimzadeh Zagami S
J Matern Fetal Neonatal Med 2017 Nov;30(22):2742-2746. Epub 2016 Nov 29 doi: 10.1080/14767058.2016.1261401. PMID: 27844480
Mostafavi SS, Ebrahimi A, Sadat SM, Davari Tanha F, Aghasadeghi MR, Bahramali G, Abbasi Ranjbar P, Sadeghifard V, Javadi F
J Obstet Gynaecol Res 2016 Apr;42(4):434-9. Epub 2016 Jan 20 doi: 10.1111/jog.12924. PMID: 26785830
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. PMID: 25996518
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. PMID: 24572052Free PMC Article

Recent systematic reviews

Islam MS, Ciavattini A, Petraglia F, Castellucci M, Ciarmela P
Hum Reprod Update 2018 Jan 1;24(1):59-85. doi: 10.1093/humupd/dmx032. PMID: 29186429
Jenabi E, Ebrahimzadeh Zagami S
J Matern Fetal Neonatal Med 2017 Nov;30(22):2742-2746. Epub 2016 Nov 29 doi: 10.1080/14767058.2016.1261401. PMID: 27844480
Liu QW, Han T, Yang M, Tong XW, Wang JJ
J Huazhong Univ Sci Technolog Med Sci 2016 Feb;36(1):142-9. Epub 2016 Feb 3 doi: 10.1007/s11596-016-1557-z. PMID: 26838756
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. PMID: 26141720Free PMC Article
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. PMID: 24832215

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