Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Uterus: Endometrial carcinoma

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

(Note : for Links provided by Atlas : click)


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


    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


    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

    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


    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 :

    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

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Wed Nov 13 22:19:15 CET 2019

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us