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. 2015 Feb 1;191(3):352–355. doi: 10.1164/rccm.201408-1480LE

Table 3.

TSC1 and TSC2 Loss of Heterozygosity in Cancer and LAM

Diseases TSC1 Loss of Heterozygosity
TSC2 Loss of Heterozygosity
Patient Loss of Heterozygosity Number [n (%)] Markers Patient Loss of Heterozygosity [n (%)] Markers
Lung adenocarcinoma 7/9 (77.8) D9S149, D9S150, DBH (18)
5/6 (83.3) D16S291, D16S525, D16S300 (18)
Glial and glioneuronal tumors 9/89 (10.1) PM4, PM2, PM1, exon 14, intron 21, exon 22 of TSC1, PM5 (19)
6/98 (6.1) Kg8, exon 40 of TSC2, IVS8, LP7, LP10 (19)
Renal cell carcinoma 7/38 (18.4) PM4, PM2, PM1, exon 14, intron 21, exon 22 of TSC1, PM5 (20)
1 /42(2.4) LP1, IVS8, LP10, exon 40 of TSC2, Kg8 (20)
Oral squamous cell carcinoma 17/46 (37.0) D9S179, D9S1830 and D9S915 (21)
18/46 (39.1) D16S3024, D16S3395, D16S475 (21)
Bladder cancer 40/70 (57.1) 24 markers between D9S61 and D9S66 (22)
   
Ovarian cancer 26/33 (78.8) 11 markers on 9p, 12 markers on 9q (24)
   
Angiomyolipomas  
  3/29 (10.3) D16S283, D16S291, Kg8, D16S525 (23)
Papillary carcinomas  
  2/6 (33.3) D16S663, D16S665 (25)
Cardiac rhabdomyomas  
  2/6 (33.3) D16S283, D16S291, Kg8, D16S525 (26)
S-LAM     47/52 (90.4) D16S521, D16S3024, D16S3395, Kg8, D16S291 (7)

Definition of abbreviations: LAM = lymphangioleiomyomatosis; S-LAM = sporadic LAM.