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Uterus: Endometrial carcinoma

Written1999-01Jérome Couturier
Department of Pathology, Institut Curie, Paris, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C540-C543,C548-C549 CORPUS UTERI
ICD-Morpho 8140/3 Adenocarcinoma, NOS
Atlas_Id 5045
Phylum Female organs: Uterus::Endometrial carcinoma

Classification

    the modified WHO classification distinguishes:
  • endometrioid adenocarcinoma
  • serous carcinoma
  • clear cell carcinoma
  • mucinous carcinoma
  • serous carcinoma
  • mixed types of carcinoma
  • undifferentiated carcinoma
  • Clinics and Pathology

    Disease It is an heterogeneous entity, comprising at least two types :
  • type I: endometrioid carcinoma : pre- and perimenopausal, estrogen dependent, associated to endometrial hyperplasia, low grade, indolent behaviour, representing about 80 % of the cases
  • type II: serous carcinoma : post-menopausal, estrogen independent, associated to atrophic endometrium, high grade, aggressive behaviour, representing about 10 % of the cases
  • among other histologic types, type I includes mucinous and secretory carcinomas, whereas type II includes clear-cell carcinomas and adenosquamous carcinomas
  • Embryonic origin tumour developped from the epithelium of the endometrial mucosa
    Etiology a strong association between unopposed estrogen stimulation and the development of endometrial carcinoma has been demonstrated; this may be related to replacement estrogen therapy, obesity, or chronic anovulation
    Epidemiology It is the most common malignancy of the female genital tract in developped countries (33.000 new cases per year in the USA); the incidence is 4 to 5 times lower in developping countries

    Genetics

    Note besides the common sporadic form, there are two forms of hereditary endometrial carcinoma:
  • a predisposition to endometrial carcinoma;
  • Lynch syndrome , which associates a risk of colon cancer, and ovarian carcinoma in women
  • Cytogenetics

    Cytogenetics
    Morphological
    the results of conventional cytogenetic techniques and Comparative Genomic Hybridisation (CGH) show that the two types of endometrial carcinoma differ by their karyotypic features : endometrioid carcinomas are characterised by relatively simple chromosome aberrations whereas serous carcinomas show complex abnormalities
  • endometrioid carcinomas are generally slightly hyperdiploid; chromosome gains concern mainly the long arm of chromosome 1 (70 % of the cases) through isochromosomes or unbalanced translocations; it can be observed as sole abnormality; trisomies 10 (40 % of the cases), 2, 7, and 12 are, in decreasing order, the most frequently associated abnormalities; trisomy 10 can exist as sole imbalance; loss of chromosome 22 has also been recurrently observed; Comparative Genomic Hybridization (CGH) confirms the low rate of copy number changes (mean of 1,5 aberrations per tumour); it roughly shows the same imbalances, and, in addition, gains of 8q (18 % of cases), and of the region 13q21-->qter (3 cases); loss of chromosome 22 has not be detected using this method; high level amplification was found in 3 cases, in 1q and in 6p
  • due to their low incidence and to the complexity of their chromosome abnormalities serous carcinomas are less documented; a CGH sudy, carried out on 24 case showed a higher rate of chromosome imbalances (mean of 5,7 aberrations per tumour); the most frequent regions of gain were 3q26.1-->qter (50 % of cases), 8q (33 %), and 1q, 2q, 5p, 6p; high level amplifications were found in 30 % of the cases in 2q, 3q, 5p, 6p, 8q, 15q, 18 p and 18q, 20
  • The distinct patterns of chromosome changes observed in serous and endometrioid carcinomas suggest that these two types belong to two genetic entities. A comparison of these results with those of a CGH study of serous ovarian carcinoma (cited in 5) shows that the serous endometrial carcinoma should be genetically related to this tumour.
  • Bibliography

    Near-diploid karyotypes with recurrent chromosome abnormalities characterize early-stage endometrial cancer.
    Bardi G, Pandis N, Schousboe K, Hlund B, Heim S
    Cancer genetics and cytogenetics. 1995 ; 80 (2) : 110-114.
    PMID 7736425
     
    Chromosome imbalance in endometrial adenocarcinoma.
    Couturier J, Vielh P, Salmon RJ, Lombard M, Dutrillaux B
    Cancer genetics and cytogenetics. 1988 ; 33 (1) : 67-76.
    PMID 3164242
     
    Blaustein's Pathology of the Female Genital Tract.
    Kurman RJ
    4th ed..
     
    Distinct chromosomal imbalances in uterine serous and endometrioid carcinomas.
    Pere H, Tapper J, Wahlstrm T, Knuutila S, Butzow R
    Cancer research. 1998 ; 58 (5) : 892-895.
    PMID 9500445
     
    Detection of DNA gains and losses in primary endometrial carcinomas by comparative genomic hybridization.
    Sonoda G, du Manoir S, Godwin AK, Bell DW, Liu Z, Hogan M, Yakushiji M, Testa JR
    Genes, chromosomes & cancer. 1997 ; 18 (2) : 115-125.
    PMID 9115961
     

    Citation

    This paper should be referenced as such :
    Couturier, J
    Uterus: Endometrial carcinoma
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):103-104.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/endometrID5045.html


    Other genes implicated (Data extracted from papers in the Atlas) [ 113 ]

    Genes ACVRL1 ADIPOR1 AKR1C3 AKT1 ALCAM APAF1 ARID5B ATF2 BAG1 BIRC2
    CASP7 CDH3 CHD6 CPM CSE1L CSF1R CXCL17 CYR61 DDR1 DKK3
    ENOX2 EPAS1 EPHA2 ERVW-1 ESRRA ESRRG FGFR2 FLCN FOXC1 FOXP1
    MTOR FSTL3 GRN HLTF HSPB1 HTRA1 HTRA2 HTRA3 IDH2
    IDO1 IL1RN INPP4B IRS1 IRS2 KCNH1 KLK4 KLLN KRAS L1CAM
    LPAR2 MACROD1 MAP2K4 MCC MCM3 MEIS1 MIR200C MIR429 MKI67 MLH1
    MMP26 MSH2 MSH3 MSH6 MTA3 MUC5AC MUC6 MYO1A NACC1 NCOA3
    NR0B1 EP300 PAEP PRKN PARK7 PAWR PAX2 PEG3 PGR
    PIK3CA PIK3R1 PIWIL1 PIWIL2 PRDM2 PTEN PTK2 RARRES1 RASSF2 RBL2
    RPS6KA6 S100A4 SDC1 SFRP4 SLPI SNAI1 SNCG SSX2 MMP11 STMN1
    STOML2 TEK THBS2 THBS2 THRB TRAP1 TRIM27 TWIST1 TWIST2 TYRO3
    VCAN VTCN1 WNT10B

    External links

    arrayMap Topo ( C54) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Other databaseTumor Portal - Broad Institute
    Other databaseICGC Data Portal - [CESC-US] Cervical Squamous Cell Carcinoma - TCGA, US
    Other databasecBioPortal: Uterine Carcinosarcoma (TCGA, Provisional)
    Other databasecBioPortal: Uterine Corpus Endometrial Carcinoma (TCGA, Provisional)
    Other databasecBioPortal: Uterine Corpus Endometrioid Carcinoma (TCGA, Nature 2013
    Other databaseUterine Carcinosarcoma (UCS) TCGA Copy Number Portal
    Other databaseUterine Carcinosarcoma [ Genomic Data Commons - NCI TCGA-UCS]
    Disease databaseUterus: Endometrial carcinoma
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


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    indexed on : Tue Nov 21 15:11:14 CET 2017


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