Table 1.
MTS associated periocular sebaceous neoplasms: demographic, clinical and pathologic characteristics of patients found in literature review by group
| Diagnostic criteria | Patient, n (%) | Patient characteristics |
Sebaceous neoplasm characteristics, n (%) |
Visceral malignancy, n (%) | Periocular SN timing (before visceral malignancy, concurrently, after), n (%) | MMR IHC defect/no cases tested (%) |
MSI positive/no cases tested, n (%) | MMR mutation positive/no cases tested, n (%) | Mayo-MTS, n (%) |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| age, years, median (range) | gender (M, F) | family history, n (%) | histology (SC, SA, SE, KA, SCC-Seb) | location (UL, LL, MC) | differentiation (well, moderate, poor) | number (single, multiple) | MSH2 | MLH1 | MSH6 | PMS2 | >2 risk factors | >2/4 risk factors | ||||||
| Group 1: clinical only [1, 13, 14, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37]a | 36/60 (60) | 60 (37–77) | 18, 9 | 10/16 (63) | 22/33 (67), 7/33 (21), 1/33 (3), 2/33 (6), 1/33 (3) | 6/12 (50), 5/12 (42), 1/12 (8) | 0/1 (0), 0/1 (0), 1/1 (100) | 16/22 (73), 6/22 (27) | 36/36 (100) | 8/30 (27), 1/30 (3), 21/30 (70) | 0/20 (0) | 0/16 (0) | 0/13 (0) | 0/9 (0) | 0/7 (0) | 0 | 18/36 (50) | 13/15 (87) |
| Group 2: screening ancillary only [5, 14, 31, 36, 38]b | 6/60 (10) | 51 (41–61) | 3, 1 | 4/5 (80) | 4/6 (67), 2/6 (33), 0/6 (0), 0/6 (0), 0/6 (0) | 1/1 (100), 0/1 (0), 0/1 (0) | 1/1 (100), 0/1 (0), 0/1 (0) | 2/3 (67), 1/3 (33) | 0/6 (0) | N/A | 3/4 (75)f | 2/3 (67)f | 2/3 (67)f | 0/2 (0)f | 3/3 (100) | 0 | 2/6 (33) | 2/2 (100) |
| IHC | 6/6 (100) | 51 (41–61) | 3, 1 | 4/5 (80) | 4/6 (67), 2/6 (33), 0/6 (0), 0/6 (0), 0/6 (0) | 1/1 (100), 0/1 (0), 0/1 (0) | 1/1 (100), 0/1 (0), 0/1 (0) | 2/3 (67%), 1/3 (33) | 0/6 (0) | N/A | 3/4 (75)f | 2/3 (67)f | 2/3 (67)f | 0/2 (0)f | 3/3 (100) | 0 | 2/6 (33) | 2/2 (100) |
| MSI | 3/6 50) | N/A | 2, 1 | 2/3 (67) | 3/3 (100), 0/3 (0), 0/3 (0), 0/3 (0), 0/3 (0) | 0 | 1/1 (100), 0/1 (0), 0/1 (0) | 0/1 (0), 1/1 (100) | 0/3 (0) | N/A | 2/2 (100)f | 1/2 (50)f | 2/2 (100)f | 0/1 (0)f | 3/3 (100) | 0 | 1/3 (33) | 1/1 (100) |
| Group 3: diagnostic genetic testing onlyc | 0/60 (0) | |||||||||||||||||
| Group 4: clinical + screening ancillary [8, 14, 26, 29, 32, 39, 40, 41, 42, 43]d | 14/60 (23) | 59 (45–79) | 7, 2 | 5/10 (50) | 10/12 (83), 2/12 0/12 (0), (17), 0/12 (0), 0/12 (0) | 5/6 (83), 1/6 (17), 0/10 (0) | 2/2 (100), 0/2 (0), 0/2 (0) | 9/10 (90), 1/10 (10) | 14/14 (100) | 2/11 (18), 0/11 (0), 9/11 (82) | 11/13 (85)f | 3/11 (27)f | 1/5 (20)f | 2/4 (50)f | 4/4 (100) | 0 | 9-11/14 (64–79)g | 7–9/9 (78–100)g |
| IHC | 14/14 (100) | 59 (45–79) | 7, 2 | 5/10 (50) | 10/12 (83), 2/12 0/12 (0), (17), 0/12 (0), 0/12 (0) | 5/6 (83), 1/6 (17), 0/10 (0) | 2/2 (100), 0/2 (0), 0/2 (0) | 9/10 (90), 1/10 (10) | 14/14 (100) | 2/11 (18), 0/11 (0), 9/11 (82) | 11/13 (85)f | 3/11 (27)f | 1/5 (20)f | 2/4 (50)f | 4/4 (100) | 0 | 9-11/14 (64–79)g | 7–9/9 (78–100)g |
| MSI | 4/14 (29) | 54 (45–71) | 4, 0 | 2/4 (50) | 4/4 (100), 0/4 (0),2/2 (100), 0/4 (0), 0/2 (0), 0/4 (0), 0/2 (0) 0/4 (0) | 1/1 (100), 0/1 (0), 0/1 (0) | 2/2 (100), 0/2 (0) | 4/4 (100) | 1/4 (25), 0/4 (0), 3/4 (75) | 2/3 (67)f | 2/3 (67)f | 0/1 (0)f | 1/1 (100)f | 4/4 (100) | 0 | 4/4 (100) | 2/2 (100) | |
| Group 5: clinical + diagnostic genetic testing [41, 44, 45, 46]e | 4/60 (7) | 55 (46–65) | 2, 2 | 2/4 (50) | 3/4 (75), 1/4 (25), 0/4 (0), 0/4 (0), 0/4 (0) | 3/3 (100), 0/3 (0), 0/ 3 (0) | 0 | 2/4 (50), 2/4 (50) | 4/4 (100) | 0/4 (0), 0/4 (0), 4/4 (100) | 0/1 (0) | 1/1 (100) | 0/1 (0) | 0 | 0 4/4 4/4 (100) (100) | 4/4 (100) | ||
| All 3 groups combined [5, 8, 13, 14, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46] | 60/60 (100) | 59 (37–79) | 34, 15 | 22/40 (55) | 40/60 (67), 16/60 (27), 1/60 (1.5), 2/60 (3), 1/60 (1.5) | 18/27 (67), 8/27 (29), 1/27 (4) | 4/5 (80), 0/5 (0), 1/5 (20) | 33/44 (75), 11/44 (25) | 54/60 (94) | 10/45 (22), 1/45 (2), 34/45 (76) | 14/38 (37) | 6/31 (19) | 3/22 (14) | 2/13 (15) | 7/14 (50) | 4/4 (100) | 33–35/ 60 (55–58)g | 26–28/30 (87–93)g |
Group 1: Clinical diagnostic criteria (periocular sebaceous neoplasm with MTS-associated visceral malignancy) without or with negative ancillary studies.
Group 2: Periocular sebaceous neoplasm with supporting screening ancillary studies (IHC or MSI) without documentation of MTS-associated visceral malignancy.
Group 3: Periocular sebaceous neoplasm with supporting diagnostic molecular genetic testing without documentation of MTS-associated visceral malignancy.
Group 4: Clinical diagnostic criteria (periocular sebaceous neoplasm with MTS-associated visceral malignancy) with supporting screening ancillary studies.
Group 5: Clinical diagnostic criteria (periocular sebaceous neoplasm with MTS-associated visceral malignancy) with supporting diagnostic molecular genetic testing.
The MMR protein defect was not specified in two tumors in Group 2 and in one tumor in Group 4 from the articles by Goldberg et al. [31], Singh et al. [5] and Lai et al. [39].
Analysis with and without visceral malignancies not included in the Mayo-MTS analysis.
MTS, Muir-Torre syndrome; M, male; F, female; SC, sebaceous carcinoma; SA, sebaceous adenoma; SE, sebaceous epithelioma; KA, keratoacanthoma; SCC-Seb, squamous cell carcinoma with sebaceous differentiation; UL, upper eyelid; LL, lower eyelid; MC, medial canthus; SN, sebaceous neoplasm; MMR, mismatch repair; IHC, immunohistochemistry; MSH2, mutS homolog2; MLH1, mutL homolog1; MSH6, mutS homolog6; PMS2, postmeiotic segregation increased2; MSI, microsatellite instability; Mayo-MTS, Mayo- MTS score as defined by Roberts et al. [15] (>2 risk factors – patients with 2 or more risk factors, with or without complete data on all 4 risk factors; >2 of 4 risk factors – patients with 2 or more risk factors and complete data on all 4 risk factors), N/A, not assessed.