Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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BRCA1 | BRCA2 | Other Genes | Family Risk | Total | Controls | |
---|---|---|---|---|---|---|
N (% on overall study population) | 85 | 63 | 27 | 15 | 190 | 145 |
Mean age at genetic test (range) | 46.9 (26–79) | 48.01 (31–71) | 51.29 (39–77) | 47.38 (39–53) | 47.94 (26–79) | – |
BMI mean (range) | 23.93 (17–37) | 23.80 (17–38.3) | 22.21 (18–32) | 23.55 (18–33.6) | 23.61 (17–38.3) | 25.06 (15–40) |
OC use (%) | 33 (39.28) | 30 (47.6) | 9 (33.3) | 6 (40) | 81 (42.63) | 48 (31.1) |
History of BC (%) | 49 (58.33) | 47 (74.6) | 10 (37.03) | 10 (66.66) | 116 (61.05) | 0 |
Tamoxifen use(%) | 16 (19.04) | 27 (42.85) | 4 (14.81) | 5 (33.33) | 52 (27.36) | 0 |
Previous chemotherapy (%) | 38 (45.23) | 36 (57.14) | 7 (25.92) | 5 (33) | 86 (45.26) | 0 |
Parity | ||||||
0 | 21 (24.7) | 17 (26.98) | 6 (22.22) | 7 (46.66) | 51 (26.84) | 34 (23.44) |
1 | 19 (22.3) | 17 (26.98) | 9 (33.33) | 1 (6.66) | 46 (24.21) | 43 (29.65) |
≥2 | 45 (52.9) | 29 (46.03) | 12 (44.44) | 7 (46.66) | 93 (48.95) | 68 (46.89) |
Menopausal status at surgery | ||||||
Premenopause (%) | 35 (41.11) | 16 (25.39) | 10 (37.03) | 5 (33.33) | 66 (34.73) | 92 (63.44) |
Postmenopause (%) | 50 (58.82) | 47 (74.60) | 17 (62.96) | 10 (66.66) | 124 (65.26) | 53 (36.55) |
Relatives with OC (%) | 46 (54.11) | 27(42.85) | 20 (74.07) | 10 (66.66) | 103 (54.21) | 0 |
Relatives with BC (%) | 65 (76.47) | 53 (84.12) | 15 (55.55) | 8 (53.33) | 141 (74.21) | 0 |
Basal CA 125 U/mL mean (range) | 10.47 (2–149) | 8.86 (2–74) | 7.02 (3.5–13.6) | 8.27 (3.1– 21.8) | 9.27 (2–149) | – |
BRCA1 (n = 85) | BRCA2 (n = 63) | Other Genes (n = 27) | Family Risk (n = 15) | Total (n = 190) | Control (n = 145) | |
---|---|---|---|---|---|---|
Mean age at surgery (range) | 48.35 (27–79) | 49.31 (35–72) | 52.44 (39–77) | 50.2 (42–57) | 49.4 | 49.74 |
Duration of surgery (min), median (range) | 91.31 (40–190) | 76.70 (25–160) | 81.29 (30–165) | 78.86 (45–120) | 84.02 (35–190) | 117 (35–300) |
EBL ml mean (range) | 65.62 (0–300) | 68.73 (0–300) | 66.29 (50–200) | 56.66 (0–100) | 66.06 (0–300) | 181 (0–1200) |
Concomitant hysterectomy | 33 (38.82) | 23 (36.50) | 6 (22.2) | 1 (6.66) | 63 (33.15) | 102 (70.34) |
Endometrial biopsy | 14 (16.47) | 14 (22.22) | 15 (55.56) | 5 (33.33) | 48 (25.26) | 2 (1.37) |
Peritoneal washing | 75 (89.28) | 58 (92.06) | 26 (96.29) | 13 (86.66) | 172 (90.53) | 18 (12.41) |
Intraop complication | 0 | 0 | 1^ (3.70) | 0 | 1 (0.52) | 3 (2.06) §, £, & |
Postop complication | 1 * (1.17) | 1 ° (1.58) | 1ç (3.70) | 0 | 3 (1.58) | 1 (0.68) $ |
Cases | Controls | p Value | |||||
---|---|---|---|---|---|---|---|
BRCA1 | BRCA2 | Other Genes | Familial Risk | Total | |||
p53 signature n, (%) | 7/85 (8.23) | 5/63 (7.9) | 5/27 (18.5) | 2/15 (13.3) | 19/190 (10.16) | 14/145 (9.65) | NS |
STIL n, (%) | 6/85 (7.05) | 6/63 (9.5) | 0/27 | 3/15 (20) | 15/190 (8.02) | 18/145 (12.41) | NS |
STIC n, (%) | 5/85 (5.88) | 3/63 (4.76) | 0/27 | 0/15 (0) | 8/190 * (4.21) | 0/145 | 0.0111 |
Invasive carcinoma (tubal and ovarian) n, (%) | 5/85 (5.88) | 2/63 (3.1) | 0/27 | 0/15 | 7/190 * (3.68) | 0/145 | 0.0206 |
Neoplastic lesions (in situ and invasive) n, (%) | 7/85 (8.23) | 4/63 | 0/27 | 0/15 | 12/190 (6.31) | 0/145 | 0.0015 |
Endometrium (EIN and cancer) n, (%) | 2/85 (2.35) | 2/63 (3.1) | 0/27 | 0/15 | 4/190 (2.10) | 4/145 (2.75) | NS |
Patient | Age at Surgery | Genetics | Mutation Type | Previous Breast Cancer | Site of Origin | STIC Present | Histology | Pelvic Washing | Ca125 at Surgery (mU/mL) | Date of Surgery | Stage | DFS (Months) | OS (Months) | Vital Status |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 49 | BRCA1 | c.5030_5033delCTAA p.(Thr1677llefs*2) | Yes | Ovary | NO | HGSC | Positive | 24 | 31 July 2020 | IIIA1 | 27 | 27 | NED |
2 | 38 | BRCA1 | c.113A>T p.(Lys505*) | No | Fallopian tubes | NO | HGSC | Negative | 149 | 24 January 2022 | IIIA1 | 10 | 10 | NED |
3 | 67 | BRCA2 | c.3939 C>G p.(Tyr1313Ter) | Yes | Ovary | NO | HGSC | Positive | 74 | 14 March 2016 | IIIC | 19 | 79 | Alive with disease |
4 | 79 | BRCA1 | c.2075_2076 dupAT p.(Asp693Metfs*9) | No | Ovary | NO | HGSC | Positive | 20 | 7 May 2018 | IC | 53 | 53 | NED |
5 | 56 | BRCA2 | c.3860dupA | No | Fallopian tubes | YES | HGSC | Negative | 9 | 21 January 2019 | IIA | 45 | 45 | NED |
6 | 64 | BRCA1 | c.190T>C p.(Cys64Arg) | Yes | Fallopian tubes | YES | HGSC | Negative | 22 | 18 January 2018 | II | 29 | 57 | Alive with disease |
7 | 58 | BRCA1 | c.5237A>C p.(His1746pro) | No | Fallopian tubes | YES | HGSC | Negative | 2.9 | 17 October 2022 | II | / | / | NED |
8 | 49 | BRCA1 | c.2075_2076 dupAT p.(Asp693Metfs*9) | No | Fallopian tubes | N/A | STIC | Positive | 9.9 | 30 October 2017 | 60 | 60 | NED | |
9 | 59 | BRCA2 | c.del ex14-18 | Yes | Fallopian tubes | N/A | STIC | Negative | 4.9 | 18 September 2014 | 160 | 160 | NED | |
10 | 66 | BRCA2 | c.700delT | Yes | Fallopian tubes | N/A | STIC | Negative | 9.3 | 2 May 2019 | 41 | 41 | NED | |
11 | 49 | BRCA1 | c.65T>C p.(Leu22Ser) | Yes | Fallopian tubes | N/A | STIC | Negative | 8 | 1 October 2017 | 60 | 60 | NED | |
12 | 56 | BRCA1 | c.5027_5045del p.(Ser1676fs) | No | Fallopian tubes | N/A | STIC | Negative | 8.9 | 30 November 2018 | 47 | 47 | NED |
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Cassani, C.; Rossi, C.; Camnasio, C.A.; Urtis, M.; Fiandrino, G.; Grasso, M.; Zanellini, F.; Lucioni, M.; D’Ambrosio, G.; Di Toro, A.; et al. Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience. Diagnostics 2022, 12, 3054. https://doi.org/10.3390/diagnostics12123054
Cassani C, Rossi C, Camnasio CA, Urtis M, Fiandrino G, Grasso M, Zanellini F, Lucioni M, D’Ambrosio G, Di Toro A, et al. Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience. Diagnostics. 2022; 12(12):3054. https://doi.org/10.3390/diagnostics12123054
Chicago/Turabian StyleCassani, Chiara, Chiara Rossi, Cristina Angela Camnasio, Mario Urtis, Giacomo Fiandrino, Maurizia Grasso, Francesca Zanellini, Marco Lucioni, Gioacchino D’Ambrosio, Alessandro Di Toro, and et al. 2022. "Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience" Diagnostics 12, no. 12: 3054. https://doi.org/10.3390/diagnostics12123054
APA StyleCassani, C., Rossi, C., Camnasio, C. A., Urtis, M., Fiandrino, G., Grasso, M., Zanellini, F., Lucioni, M., D’Ambrosio, G., Di Toro, A., Rossi, M., Roccio, M., Ferrari, A., Secondino, S., Nappi, R. E., Arbustini, E., Paulli, M., Spinillo, A., & Cesari, S. (2022). Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience. Diagnostics, 12(12), 3054. https://doi.org/10.3390/diagnostics12123054