Table II.
Results of loss of heterozygosity analysis of microdissected endometrium of patients with endometriosis.
| Sample type | |||||
|---|---|---|---|---|---|
| Author, year | Cases (n) | Controls (n) | Analyzed chromosomes | Frequent changes: Patients with alterations (n)/patients, n (%) | Refs. |
| Jiang, 1996 | EC:E+S (40) | Blood (40) | 16q14–15(D6S284);6q14(D6S300); 9p21(D9S171); | 9p21(D9S171):3/34(8.8) | (17) |
| 9p21(D9S161);1q23.3(D11S1336); | 9p21.2(D9S161):6/34(17.6) | ||||
| 11q23.3(D11S1328);17p13.1(TP53CA); | 11q23.3(D11S1336):5/33(15) | ||||
| 17q21.1(D17S855); | 11q23.3(D11S1328):1/33(3) | ||||
| 17q21.1(D17S806);22q13-qter(D22S304); | 22q13-qter(D22S304):2/40(5) | ||||
| 22q12.3–13.1(PDGFB);22q11.2-qter(CYP2D); | 22q11.2-qter(CYP2D):4/40(10) | ||||
| 22q12.1-ter(D22S276);22q13.3(D22S274); Xq11.1(HUMARA-1); | 22q12.1-ter(D22S276):2/40(5); | ||||
| Sato, 2000 | EC:E (34) | Normal epithelial | 10q23.3(D10S215); | 10q23.3 (D10S215):3/11(27.3); | (26) |
| cellsa (34) | 10q23.3(D10S608); | 10q23.3 (D10S608):6/12(50.0); | |||
| 10q23.3(D10S541); | 10q23.3 (D10S541):8/14(57.1); | ||||
| Nakayama, 2001 | EC:E (4) | EU:E (4) | 9p21(P16);9p22.3(PTCH);11p13(WT1);9p21.2(D9S161);13q14.2(RB1); | 9p22.3 (PTCH):1/4(25) | (27) |
| 14q32(D14S267);17q21.3(NM23);18q21.1(DPC-4);18q21.3(DCC) | |||||
| Goumenou, 2001 | EC:E (22) | EU:E (22) | 1p31-p21(D1S116);1p(D1S186);1q42-q43(ACTN2); | 1q21q23 (APOA2):1/18(5.5); | (28) |
| 1q21q23(APOA2);2p(D2S2291);2p(D2S288); | 9p21 (D9S161):3/20(15.0); | ||||
| 2q21-q33(D2S141);2q32(D2S202);2q(D2S311); | 9p21 (D9S270):3/17(17.6); | ||||
| 3p24.2-p22(D3S1561);p21(D9S161);9p21(D9S270); | 9p21 (D9S265):1/15(6.7); | ||||
| 9p22(IFNA);9p21(D9S265);9q31-q34(D9S112); | 17q11.2–12.1(D17S250):1/21(4.8) | ||||
| 17p13.1(TP53);17q11.2–12.1(D17S250); | |||||
| Guo, 2004 | EC:E (5) | NU:E (4) + placenta | 19q13.31(D19S408); 1p34.3–36.11(D1S3463) | 1p34.3-36.11(D1S3463):1/5(20) | (29) |
| epithelial cells (1) | 6p22.3–24(D6S1653) | 6p22.3–24(D6S1653):1/5(20) | |||
| Prowse, 2005 | EC:E (17) | EC:S (17) + ovarian S (17) | 9p21.3(D9S1870);9p21.3(D9S265); | 8p22 (D8S261):1/14(7) | (30) |
| 9p21.1(D9S270);9p21.2(D9S161);11q23.3(D11S29); | |||||
| 1p36.13(D1S199);8p22(D8S261);1q23.3(APOA2); | |||||
| 9q22.3(PTCH); 17p13.1(TP53); | |||||
| 10q23.31(D10S541);10q23.31(D10S1765) | |||||
| Ali-Fehmi, 2006 | EC:E (23) | EC:S (23) | 10q23.3(D10S215); | 10q23.3 (D10S215):1/23(4.3) | (31) |
| 10q23.3(D10S608); | 10q23.3 (D10S608):2/23(8.7); | ||||
| 10q23.3(D10S541); | 10q23.3 (D10S541):4/23(17.4) | ||||
| Xu, 2011 | EC:E (12) | EC:S (12) + blood (2) | 5q11.2(D5S407);6p24.3(D6S470); | 9p21.1 (D9S270):1/12(8.3) | (32) |
| 9p21.1(D9S270); | |||||
| 9p21.2(D9S161);9p21.3(D9S265);9p21.3(D9S1870); | 9p21.2 (D9S161):1/12(8.3) | ||||
| 10q23.31(D10S541);10q23.31(D10S1765); | 10q23.31(D10S541):3/12(25) | ||||
| 10q23–24(D10S215);10q23–24(D10S579); 13q31(D13S265); | 13q31(D13S265):3/12(25) | ||||
| 17p13.1(TP53);17q22–23.2(D17S787); | |||||
| Wang, 2012 | EC:E (LCM:22; MCM:18) | Normal ovarian | 10q23.31(TTTA1);10q23.31(TTTA2); | 17q21.31(AAAT2); | (33) |
| epithelial cells | 9p21.3(AAGG);9p21.3(AAGA); | 9p21.3(AAAT1); | |||
| (LCM:22; MCM:18) | 9p21.3(AAAT1);6p21.31(GATA61E03); | 10q23.31(TTTA1); | |||
| 6p21.31(TTTC1);6p21.31(TTTC2); | LCM: 13/22(56.09); | ||||
| 17p13.1(TCTT);17p13.1(D17S720); | MCM: 11/18(61.11); | ||||
| 17q21.31(CTTT);17q21.31(ACA); | |||||
| 17q21.31(AAAT2);22q12.3(TTCC); 22q12.3(TAA) | |||||
| Saare, 2012 | EC:E (17) | EU:E + blood (11) | The whole genome | No foci-specific cn-LOH | (35) |
a
Epithelial cells from fallopian tubes and lymph nodes. EC, ectopic endometrium; EU, eutopic endometrium; E, glandular epithelial cell; NU, normal endometrium; MCM, manual capture microdissection; LCM, laser capture microdissection; S, stromal cell; cn-LOH, copy neutral loss of heterozygosity.