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. 2015 Aug 15;467(5):595–602. doi: 10.1007/s00428-015-1817-5

Table 1.

Routine genomic versus mitochondrial DNA results for 84 patients with a D310 mutation in at least one of their tumors

Genomic DNA results Mitochondrial DNA results
Pt T1 T2 T3 T4 T5 TP53 LOH Other Conclusion N T1 T2 T3 T4 T5 Conclusion
Concordant: 2 primary tumors
 9 Larynx, 2003 Pleura, 2006 Yes Yes T1 ≠ T2 7 7 9 T1 ≠ T2
 22 Lung, 1994 Larynx, 2006 Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 25 Breast, 2003 Breast, 2006 Yes Yes T1 ≠ T2 8 9 8 T1 ≠ T2
 26 Adnex, 2006 Kidney, 2006 Yes T1 ≠ T2 NE 8 9 T1 ≠ T2
 36 Tonsil, 2006 Lung, 2007 Yes Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 51 Tonsil, 2007 Esophagus, 2007 Lung, 2007 Yes Yes (T1 = T2) ≠ T3 8 8 8 9 (T1 = T2) ≠ T3
 63 Cervix, 2006 Colon, 2007 Liver, 2007 Yes Yes T1 ≠ T3 & T2 ≠ T3 8 8 8 10 (T1 = T2) ≠ T3
 64 Lung, 2007 Adrenal gland, 2007 Yes T1 ≠ T2 8 10 8 T1 ≠ T2
 95 Lymph node, 2000 Breast, 2008 Yes Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 118 Prostate, 2002 Skin, 2008 Yes T1 ≠ T2 7 7 8 T1 ≠ T2
 152 Breast, 1993 Breast, 2009 Yes Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 155 Breast, 1993 Breast, 2009 Yes Yes T1 ≠ T2 9 9 8 T1 ≠ T2
 163 Tongue, 2008 Maxilla, 2009 Yes Yes T1 ≠ T2 7 7 9 T1 ≠ T2
 185 Colon, 2006 Colon, 2010 Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 200 Breast, 2010 Peritoneum, 2010 Yes T1 ≠ T2 8 8 7 T1 ≠ T2
 211 Rectum, 2002 Duodenum, 2010 Yes Yes T1 ≠ T2 8 9 10 T1 ≠ T2
 213 Larynx, 2005 Esophagus, 2010 Yes Yes T1 ≠ T2 8 8 7 T1 ≠ T2
 216 Breast, 1998 Bladder, 2010 Yes Yes T1 ≠ T2 8 8 9 T1 ≠ T2
 232 Breast, 2001 Breast, 2010 Yes Yes T1 ≠ T2 8 8 7 T1 ≠ T2
 240 Mouth, 2010 Lung, 2010 Yes T1 ≠ T2 8 9 8 T1 ≠ T2
 250 Mouth, 2007 Lung, 2011 Yes Yes T1 ≠ T2 9 9 8 T1 ≠ T2
 263 Abdomen, 1999 Pelvis, 2011 Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 272 Mouth, 2009 Lung, 2011 Yes Yes T1 ≠ T2 8 9 8 T1 ≠ T2
 314 Skin, 2011 Skin, 2011 Yes Yes T1 ≠ T2 NE 9 8 T1 ≠ T2
 315 Vagina, 2011 Liver, 2011 Breast, 2011 Yes Yes T1 ≠ (T2 = T3) 8 8 9 9 T1 ≠ (T2 = T3)
 352 Lung, 2012 Lung, 2012 Yes Yes T1 ≠ T2 8 8 7 T1 ≠ T2
 367 Colon, 2012 Lymph node, 2012 Yes T1 ≠ T2 9 10 7 T1 ≠ T2
 368 Lung, 2010 Pancreas, 2012 Yes Yes T1 ≠ T2 8 7 8 T1 ≠ T2
 371 Breast, 2008 Ovary, 2011 Liver, 2012 Liver, 2012 Yes Yes T1 ≠ (T2 = T3 = T4) 8 7 8 8 8 T1 ≠ (T2 = T3 = T4)
 373 Breast, 2010 Ovary, 2011 Yes T1 ≠ T2 8 9 8 T1 ≠ T2
 382 Mouth, 2012 Esophagus, 2013 Yes T1 ≠ T2 7 10 6 T1 ≠ T2
Concordant: clonally related tumors
 6 Nasopharynx, 2006 Maxillary sinus, 2006 Yes T1 = T2 8 9 9 T1 = T2
 41 Breast, 2002 Liver, 2007 Yes T1 = T2 9 7 7 T1 = T2
 59 Skin, 1996 Lung, 2007 Yes Yes T1 = T2 8 9 9 T1 = T2
 62 Colon, 2004 Colon, 2006 Yes T1 = T2 9 8 8 T1 = T2
 93 Liver, 2006 Liver, 2008 Yes Yes T1 = T2 8 7 7 T1 = T2
 137 Tonsil, 2008 Nasal cavity, 2009 Yes Yes T1 = T2 8 7 7 T1 = T2
 143 Lymph node, 2008 Epiglottis, 2008 Lung, 2009 Yes Yes T1 = T2 = T3 8 7 7 NE T1 = T2
 177 Esophagus, 2009 Esophagus, 2009 Yes T1 = T2 7 8 8 T1 = T2
 184 Liver, 2007 Colon, 2010 Yes Yes T1 = T2 8 10 10 T1 = T2
 196 Ovary, 2010 Endometrium, 2010 Yes T1 = T2 7 10 10 T1 = T2
 265 Larynx, 2010 Lung, 2011 Yes T1 = T2 8 10 10 T1 = T2
 270 Lymph node, 2011 Lymph node, 2011 Yes T1 = T2 8 9 9 T1 = T2
 299 Ovary, 2011 Uterus, 2011 Yes T1 = T2 8 7 7 T1 = T2
 326 Colon, 2006 Lung, 2012 Yes T1 = T2 8 9 9 T1 = T2
 344 Scrotum, 2012 Pleura, 2012 Yes T1 = T2 8 10 10 T1 = T2
 347 Skin, 2009 Lung, 2012 Yes T1 = T2 8 9 9 T1 = T2
 362 Breast, 2011 Lung, 2012 Skin, 2012 Yes T1 = T2 = T3 8 10 10 10 T1 = T2 = T3
 365 Breast, 2012 Colon, 2012 Yes T1 = T2 8 Del Del T1 = T2
 366 Colon, 2010 Lung, 2012 Yes T1 = T2 8 9 9 T1 = T2
 379 Colon, 2012 Bladder, 2013 Yes Yes T1 = T2 8 7 7 T1 = T2
 380 Breast, 2011 Skin, 2013 Yes Yes T1 = T2 7 8 8 T1 = T2
Mitochondrial DNA: 2 primary tumors; genomic DNA: clonally related tumors
 3 Skin, 2003 Skin, 2003 Yes Yes T1 = T2 7 7 8 T1 ≠ T2
 12 Breast, 2003 Peritoneum, 2004 Yes Yes T1 = T2 NE 8 9 T1 ≠ T2
 104 Lung, 2008 Lung, 2008 Liver, 2008 Yes Yes T1 = T2 = T3 8 8 9 8 (T1 = T3) ≠ T2
 139 Lung, 2007 Lung, 2009 Yes T1 = T2 8 8 7 T1 ≠ T2
 237 Esophagus, 2010 Esophagus, 2010 Yes T1 = T2 8 9 8 T1 ≠ T2
 245 Colon, 2008 Lung, 2010 Yes Yes T1 = T2 7 7 8 T1 ≠ T2
 268 Larynx, 2010 Lung, 2011 Yes Yes T1 = T2 8 8 9 T1 ≠ T2
 334 Tonsil, 2008 Lymph node, 2012 Yes T1 = T2 8 9 8 T1 ≠ T2
 350 Larynx, 2010 Larynx, 2010 Lung, 2012 Yes Yes T1 = T2 = T3 NE 7 8 7 (T1 = T3) ≠ T2
Mitochondrial DNA: clonally related tumors; genomic DNA: 2 primary tumors
 27 Stomach, 2000 Pancreas, 2006 Yes Yes T1 ≠ T2 8 7 7 T1 = T2
 219 Lung, 2007 Small intestine, 2010 Small intestine, 2010 Yes T1 ≠ (T2 = T3) 9 10 10 10 T1 = T2 = T3
 248 Breast, 2000 Breast, 2010 Yes T1 ≠ T2 9 8 8 T1 = T2
 262 Breast, 2003 Breast, 2011 Yes T1 ≠ T2 9 8 8 T1 = T2
 275 Pancreas, 2003 Liver, 2011 Yes T1 ≠ T2 8 9 9 T1 = T2
 324 Epiglottis, 2011 Lung, 2012 Yes T1 ≠ T2 8 9 9 T1 = T2
 346 Lymph node, 2011 Palatum, 2012 Yes T1 ≠ T2 9 10 10 T1 = T2
Discordant: complex
 178 Bladder, 2003 Lung, 2004 Small intestine, 2004 Yes Yes T1 ≠ (T2 = T3) 8 8 8 7 (T1 = T2) ≠ T3
 187 Oropharynx, 2004 Skin, 2006 Lung, 2010 Lung, 2010 Yes Yes Yes T1 ≠ T2 ≠ T3 ≠ T4 8 8 8 7 7 (T1 = T2) ≠ (T3 = T4)
 306 Pharynx, 2011 Mouth, 2011 Larynx, 2011 Lung, 2011 Yes Yes T1 ≠ T2 ≠ T4 7 7 8 7 7 (T1 = T3 = T4) ≠ T2
 316 Esophagus, 1999 Esophagus, 2002 Esophagus, 2011 Yes Yes T2 ≠ T3 NE 7 6 6 T1 ≠ (T2 = T3)
 340 Lung, 1990 Bladder, 2007 Breast, 2009 Groin, 2012 Bladder, 2012 Yes (T2 = T4 = T5) ≠ T3 8 10 8 8 8 9 T1 ≠ (T2 = T3 = T4) ≠ T5
No comparison possible
 46 Breast, 1989 Breast, 2007 No conclusion 8 8 9 T1 ≠ T2
 69 Stomach, 2007 Colon, 2007 No conclusion 8 7 8 T1 ≠ T2
 91 Tonsil, 2006 Skin, 2008 Yes Yes T1 = T2 (uncertain) 8 9 9 T1 = T2
 107 Colon, 1995 Colon, 1995 Vertebra, 2008 No conclusion 8 9 9 8 (T1 = T2) ≠ T3
 121 Thorax, 1996 Skin, 1998 Breast, 2008 No conclusion 8 8 8 10 (T1 = T2) ≠ T3
 126 Breast, 2000 Peritoneum, 2008 No conclusion 8 8 7 T1 ≠ T2
 173 Breast, 2009 Breast, 2009 No conclusion 9 7 9 T1 ≠ T2
 179 Skin, 2008 Breast, 2009 Yes Yes T1 = T2 (uncertain) 8 9 8 T1 ≠ T2
 246 Esophagus, 2011 Esophagus, 2011 No conclusion 7 10 7 T1 ≠ T2
 259 Ovary, 2011 Endometrium, 2011 Ovary, 2011 No conclusion 8 10 9 10 (T1 = T3) ≠ T2
 372 Tongue, 2012 Pleural fluid, 2012 Yes T1 = T2 (uncertain) 8 9 8 T1 ≠ T2

Patients are categorized according to the final results of both genomic and mitochondrial DNA analyses. Genomic DNA results are based on TP53 mutation analysis, LOH analysis, and/or other analyses (“Yes” indicates that the particular analysis contributed to the final conclusion). Details about the genomic DNA analysis are provided in Online Resource 2. Mitochondrial DNA results show the D310 repeat length for all analyzed tumors

Del deletion, NE non-evaluable, pt patient, T1-T5 tumor 1-5