Revisitando la indicación de la mastectomía profiláctica contralateral en pacientes con Síndrome de Li-Fraumeni y cáncer de mama. Reporte de un caso

Palabras clave: mutación TP53-genes p53, síndrome de Li-Fraumeni, cáncer de mama, mastectomía profiláctica

Resumen

Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población.

Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad.

Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.

Descargas

La descarga de datos todavía no está disponible.

Referencias bibliográficas

Schneider K, Zelley K, Nichols KE, Garber J. Li-Fraumeni Syndrome. Seattle (WA): In: Adam MP, Ardinger HH, Pagon RA, et al., editors; 1999. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1311/

Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969;71(4):747-52. https://doi.org/10.7326/0003-4819-71-4-747

Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250(4985):1233-8. https://doi.org/10.1126/science.1978757

Hwang SJ, Lozano G, Amos CI, Strong LC. Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk. Am J Hum Genet. 2003;72(4):975–83. https://doi.org/10.1086/374567

Id Said B, Kim H, Tran J, Novokmet A, Malkin D. Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome. Hum Mutat [Internet]. 2016;37(9):889–92. https://doi.org/10.1158/1538-7445.AM2016-792

Kuba MG, Lester SC, Bowman T, Stokes SM, Taneja KL, Garber JE, et al. Histopathologic features of breast cancer in Li–Fraumeni syndrome. Mod Pathol. 2021;34(3):542–8. https://doi.org/10.1038/s41379-020-0610-4

Sidransky D, Tokino T, Helzlsouer K, Zehnbauer B, Shelton B, Prestigiacomo L, et al. Inherited p53 Gene Mutations in Breast Cancer. Cancer Res. 1992;52(10):2984–6.

Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, et al. Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122(23):3673–81. https://doi.org/10.1002/cncr.30248

Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN, Balmana J, et al. Breast cancer phenotype in women with TP53 germline mutations: A Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat. 2012;133(3):1125–30. https://doi.org/10.1007/s10549-012-1993-9

Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994;54(5):1298–304. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/8118819

Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res [Internet]. 2003;63(20):6643–50. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/14583457

Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, et al. Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study). J Pathol Clin Res. 2019;5(3):189–98. https://doi.org/10.1002/cjp2.133

Kwong A, Shin VY, Ho CYS, Au CH, Slavin TP, Weitzel JN, et al. Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients. BMC Cancer. 2020;20(1):1–10. https://doi.org/10.1186/s12885-020-07476-y

Breast Cancer Association Consortium Cancer Risk Genes - Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5):428-439. https://doi.org/10.1056/NEJMoa1913948

Evans DG, Woodward ER. New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer. Fam Cancer. 2021;20(1):1–7. https://doi.org/10.1007/s10689-020-00207-z

Kwong A, Shin VY, Ho CYS, Au CH, Slavin TP, Weitzel JN, et al. Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients. BMC Cancer. 2020;20(1):1–10. https://doi.org/10.1186/s12885-020-07476-y

Krontiras H, Farmer M, Whatley J. Breast Cancer Genetics and Indications for Prophylactic Mastectomy. Surg Clin North Am. 2018;98(4):677–85. https://doi.org/10.1016/j.suc.2018.03.004

Alves MC, Sandoval RL, Pisani JP, Quirino CV, Santos ES, Achatz MI. Abstract P6-08-18: Breast cancer in Li-Fraumeni syndrome and risk-reduction mastectomy in TP53 p.R337H carriers. In: Poster Session Abstracts. American Association for Cancer Research; 2020. p. P6-08-18-P6-08–18. https://doi.org/10.1158/1538-7445.SABCS19-P6-08-18

Kratz CP, Achatz MI, Brugieres L, Frebourg T, Garber JE, Greer MLC, et al. Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 2017;23(11):e38–45. https://doi.org/10.1158/1538-7445.SABCS19-P6-08-18

Fortuno C, Pesaran T, Mester J, Dolinsky J, Yussuf A, McGoldrick K, et al. Genotype-phenotype correlations among TP53 carriers: Literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet. 2020;248–249:11–7. https://doi.org/10.1016/j.cancergen.2020.09.002

Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, et al. Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer. Int J Cancer. 2020;146(2):487–95. https://doi.org/10.1002/ijc.32424

Song CV, Teo SH, Taib NA, Yip CH. Surgery for BRCA, TP53 and PALB2: A literature review. Ecancermedicalscience. 2018;12:1–10. https://doi.org/10.3332/ecancer.2018.863

Carbine NE, Lostumbo L, Wallace J, Ko H. Risk-reducing mastectomy for the prevention of primary breast cancer. Cochrane Database Syst Rev. 2018;4(4):CD002748. https://doi.org/10.1002/14651858

Lostumbo L, Carbine NE, Wallace J. Prophylactic mastectomy for the prevention of breast cancer. Cochrane Database Syst Rev. 2010;(11):CD002748. https://doi.org/10.1002/14651858.CD002748

Eck DL, Perdikis G, Rawal B, Bagaria S, McLaughlin SA. Incremental risk associated with contralateral prophylactic mastectomy and the effect on adjuvant therapy. Ann Surg Oncol. 2014;21(10):3297-303. https://doi.org/10.1245/s10434-014-3903-3

Gentile M, Bergman Jungeström M, Olsen KE, Söderkvist P, Wingren S. p53 and survival in early onset breast cancer: Analysis of gene mutations, loss of heterozygosity and protein accumulation. Eur J Cancer. 1999;35(8):1202–7. https://doi.org/10.1016/S0959-8049(99)00121-5

Soussi T. UMD TP53 Mutation Database. The TP53 Web Site. 2017. Disponible en: https://p53.fr/the-database

Ossa CA, Molina G, Cock-Rada AM. Síndrome de li-fraumeni. Biomedica. 2016;36(2):182–7. https://doi.org/10.7705/biomedica.v36i3.2793

Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, et al. Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021. JNCCN J Natl Compr Cancer Netw. 2021;19(1):77–102. https://doi.org/10.6004/jnccn.2021.0001

Schon K, Tischkowitz M. Clinical implications of germline mutations in breast cancer: TP53. Breast Cancer Res Treat. 2018;167(2):417–23. https://doi.org/10.1007/s10549-017-4531-y

Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, et al. Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline. J Clin Oncol. 2020;38(18):2080–106. https://doi.org/10.1200/JCO.20.00299

Calderón del Valle SA, Gallón Villegas LJ. Cáncer de mama asociado a mutaciones genéticas de los BRCA 1 y 2. CES Med. 2012;26(2):185–99.

Van Der Groep P, Van Der Wall E, Van Diest PJ. Pathology of hereditary breast cancer. Cell Oncol. 2011;34(2):71–88. https://doi.org/10.1007/s13402-011-0010-3

Van Sprundel TC, Schmidt MK, Rookus MA, Brohet R, Van Asperen CJ, Rutgers EJT, et al. Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer. 2005;93(3):287–92. https://doi.org/10.1038/sj.bjc.6602703

Evans DGR, Ingham SL, Baildam A, Ross GL, Lalloo F, Buchan I, et al. Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat. 2013;140(1):135–42. https://doi.org/10.1007/s10549-013-2583-1

Metcalfe K, Gershman S, Ghadirian P, Lynch HT, Snyder C, Tung N, et al. Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: Retrospective analysis. BMJ. 2014;348:1–11. https://doi.org/10.1136/bmj.g226

Heemskerk-Gerritsen BAM, Rookus MA, Aalfs CM, Ausems MGEM, Collée JM, Jansen L, et al. Improved overall survival after contralateral risk-reducing mastectomy in brca1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis. Vol. 136, International Journal of Cancer. 2015. p. 668–77. https://doi.org/10.1002/ijc.29032

Copson ER, Maishman TC, Tapper WJ, Cutress RI, Greville-Heygate S, Altman DG, et al. Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. Lancet Oncol. 2018;19(2):169–80. https://doi.org/10.1016/S1470-2045(17)30891-4

Levine DA, Gemignani ML. Prophylactic surgery in hereditary breast/ovarian cancer syndrome. Vol. 17, ONCOLOGY. 2003.

Biglia N, D’Alonzo M, Sgro LG, Tomasi Cont N, Bounous V, Robba E. Breast cancer treatment in mutation carriers: Surgical treatment. Vol. 68, Minerva Ginecologica. 2016.

Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL. Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. Am J Surg. 2016;212(4):660–9. https://doi.org/10.1016/j.amjsurg.2016.06.010

Fayanju OM, Stoll CRT, Fowler S, Colditz GA, Margenthaler JA. Contralateral prophylactic mastectomy after unilateral breast cancer: A systematic review and meta-analysis. Vol. 260, Annals of Surgery. 2014. https://doi.org/10.1097/SLA.0000000000000769

Valachis A, Nearchou AD, Lind P. Surgical management of breast cancer in BRCA-mutation carriers: A systematic review and meta-analysis. Breast Cancer Res Treat. 2014;144(3):443–55. https://doi.org/10.1007/s10549-014-2890-1

Li X, You R, Wang X, Liu C, Xu Z, Zhou J, et al. Effectiveness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: A meta-analysis and systematic review. Vol. 22, Clinical Cancer Research. 2016. 3971–3981 p. https://doi.org/10.1158/1078-0432.CCR-15-1465

American Society of Clinical Oncology (ASCO) - SEER Data Bases. 2021. Disponible en: https://www.cancer.net/cancer-types/sarcomas-soft-tissue

Davis FG, McCarthy BJ, Freels S, Kupelian V, Bondy ML. The conditional probability of survival of patients with primary malignant brain tumors. Cancer. 1999;85(2):485–91. https://doi.org/10.1002/(SICI)1097-0142(19990115)85:2<485::AID-CNCR29>3.0.CO;2-L

American Lung Association. Trends in Lung Cancer Morbidity and Mortality American Lung Association Research and Program Services Division November 2014 Table of Contents Trends in Lung Cancer Morbidity and Mortality List of Tables and Figures. 2014. Disponible en: https://www.lung.org/assets/documents/research/lc-trend-report.pdf

Waks AG, Winer EP. Breast Cancer Treatment: A Review. JAMA - J Am Med Assoc. 2019;321(3):288–300. https://doi.org/10.1001/jama.2018.19323

Statistics adapted from the American Cancer Society’s publications, Cancer Facts & Figures 2021 and Cancer Facts & Figures 2020; the ACS website; and the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) Program. Disponible en: https://www.cancer.net/cancer-types/breast-cancer/statistics

Liederbach E, Piro R, Hughes K, Watkin R, Wang CH, Yao K. Clinicopathologic features and time interval analysis of contralateral breast cancers. Surg (United States). 2015;158(3):676–85. https://doi.org/10.1016/j.surg.2015.03.059

Díaz‐Casas SE, Castilla‐Tarra JA, Pena‐Torres E, Orozco‐Ospino M, Mendoza‐Diaz S, Nuñez‐Lemus M, et al. Pathological Response to Neoadjuvant Chemotherapy and the Molecular Classification of Locally Advanced Breast Cancer in a Latin American Cohort. Oncologist. 2019;24(12):1–11. https://doi.org/10.1634/theoncologist.2019-0300

Crosby MA, Garvey PB, Selber JC, Adelman DM, Sacks JM, Villa MT, et al. Reconstructive outcomes in patients undergoing contralateral prophylactic mastectomy. Plast Reconstr Surg. 2011;128(5). https://doi.org/10.1097/PRS.0b013e31822b6682

Miller ME, Czechura T, Martz B, Hall ME, Pesce C, Jaskowiak N, et al. Operative risks associated with contralateral prophylactic mastectomy: A single institution experience. Ann Surg Oncol. 2013;20(13). https://doi.org/10.1245/s10434-013-3108-1

Osman F, Saleh F, Jackson TD, Corrigan MA, Cil T. Increased postoperative complications in bilateral mastectomy patients compared to unilateral mastectomy: An analysis of the NSQIP database. Ann Surg Oncol. 2013;20(10). https://doi.org/10.1245/s10434-013-3116-1

Silva AK, Lapin B, Yao KA, Song DH, Sisco M. The Effect of Contralateral Prophylactic Mastectomy on Perioperative Complications in Women Undergoing Immediate Breast Reconstruction: A NSQIP Analysis. Ann Surg Oncol. 2015;22(11). https://doi.org/10.1245/s10434-015-4628-7

Frost MH, Slezak JM, Tran NV, Williams CI, Johnson JL, Woods JE, et al. Satisfaction after contralateral prophylactic mastectomy: the significance of mastectomy type, reconstructive complications, and body appearance. J Clin Oncol. 2005 Nov 1;23(31):7849-56. https://doi.org/10.1200/JCO.2005.09.233

Yao K. Contralateral prophylactic mastectomy: Current perspectives. Chang Paradig Manag Breast Cancer. 2017;33–46. https://doi.org/10.1007/978-3-319-60336-0_3

Publicado
2021-09-30
Cómo citar
1.
Briceño-Morales X, Briceño-Morales C, Guerrero-Macías SI, Pedroza-Durán AM, Súarez-Rodríguez RA. Revisitando la indicación de la mastectomía profiláctica contralateral en pacientes con Síndrome de Li-Fraumeni y cáncer de mama. Reporte de un caso. Rev. Colomb. Obstet. Ginecol. [Internet]. 30 de septiembre de 2021 [citado 3 de diciembre de 2021];72(3):307-18. Disponible en: https://revista.fecolsog.org/index.php/rcog/article/view/3690
Sección
Reporte de Caso
Crossref Cited-by logo

Más sobre este tema