Squamous cell oesophageal cancer in retinoblastoma survivor: does germinal RB1 mutation influence chemoand radiosensitivity? Case report
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Abstract
The case of complete response of squamous cell oesophageal cancer to radiochemotherapy in patient previously operated due to hereditary retinoblastoma is presented. Second cancers in retinoblastoma survivors are the main cause of death in that group of patients in developed countries. There is little data on the outcome of treatment in those patients but the few papers available suggest rather poor prognosis. However, it is not clear whether the biology of cancer determined by RB gene mutation is responsible for that. The data suggesting decreased radio- and chemoresistance in cancers with decreased RB gene expression is discussed in the present paper. The role of that gene in the response to cancer treatment was showed in lung, breast and bladder cancer. Moreover, laboratory studies seem to confirm clinical observations and show that RB gene inhibition leads to increased cytotoxic effect of cisplatin, etoposide and 5-fluorouracil. It seems that without the incorporation of gene expression profiling into clinical practice further improvement in cancer treatment will be difficult to achieve.
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Copyright: © Medical Education sp. z o.o. This is an Open Access article distributed under the terms of the Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). License (https://creativecommons.org/licenses/by-nc/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)
References
2. Mittnacht S: The retinoblastoma protein – from bench to bedside. Eur J Cell Biol 2005; 84: 97-107.
3. Eng C, Li F, Abramson D. et al. Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst. 1993; 85: 1121-8.
4. Kelinerman R, Tucker M, Tarone R et al. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up. J Clin Oncol 2005; 23: 2272-9.
5. Marees T, van Leeuwen F, de Boer M et al. Cancer mortality in long-term survivors of retinoblastoma. Eur J Cancer 2009; 45: 3245-53.
6. Fletcher O, Easton D, Anderson K et al. Lifetime risk of common cancers among retinoblastoma survivors. J Natl Inst Cancer 2004; 96: 357-63.
7. Woo K, Harbour J: Review of 676 second primary tumors in patients with retinoblastoma. Arch Ophthalmol 2010; 128: 865-70.
8. Dunkel I, Gerald W, Rosenfield N et al. Outcome of Patients with a history of Bilateral Retinoblastoma treated for a second malignancy: the sloan-kettering experience. Med Pediatr Oncol 1998; 30: 59-62.
9. Rodjan F, Graaf P, Brisse H. et al. Second cranio-facial malignancies in hereditary retinoblastoma survivors previously treated with radiation therapy: clinic and radiologic characteristics and survival outcomes. Eur J Cancer 2013; 49: 1939-47.
10. Aerts I, Pacquement H, Doz F et al. Outcome of second malignancies after retinoblastoma: a retrospective analysis of 25 patients treated at the Institute Curie Eur J Cancer 2004; 40: 1522-9.
11. Zubin C, Rosenfield N, Abramson S et al. The location and appearance of second malignancies in patients with bilateral retinoblastoma. Sarcoma 1997; 2: 89-93.
12. Mohney B, Robertson D, Schomberg P et al. Second non-ocular tumors in survivors of heritable retinoblastoma and prior radiation therapy. Am J Ophthalmol 1998; 128: 268-77.
13. Moll A, Imhof S, Bouter L et al: Second primary tumors in patients with hereditary retinoblastoma: a register-based follow-up study, 1945-1994. Int J Cancer 1996; 67: 515-9.
14. Ikeguchi M, Oka S, Gomyo Y et al. Clinical significance of retinoblastoma protein (pRB) expression in oesophageal squamous cell cancer J Surg Oncol 2000; 73: 104-8.
15. Guner D, Sturm I, Hemmati P et al. Multigene analysis of RB pathway and apoptosis control in esophageal squamous cell carcinoma identifies patients with good prognosis. Int J Cancer 2003; 103: 445-54.
16. Ishikawa T, Furihata M, Ohtsuki Y et al. Cyclin D1 overexpression related to retinoblastoma protein expression as a prognostic marker in human esophageal squamous cell carcinoma. Br J Cancer 1998; 77: 92-7.
17. Ludovini V, Gregorc V, Pistola L et al. Vascular endothelial growth factor, p53, Rb, Bcl-2 expression and response to chemotherapy in advance non-small cell lung cancer. Lung Cancer 2004; 46: 77-85.
18. Joseph M, Banerjee D, Kocha W et al: Metallothionein expression in patients with small cell carcinoma of the lung: correlation with other molecular markers and clinical outcome. Cancer 2001; 92: 836-42.
19. Derenzini M, Donati G, Mazzini G et al. Loss of retinoblastoma tumor suppressor protein makes human breast cancer cells more sensitive to antimetabolite exposure. Clin Cancer Res 2008; 14: 2199-209.
20. Trere D, Brighenti E, Donati G et al: High prevalence of retinoblastoma protein loss in triple-negative breast cancers and its association with a good prognosis in patients treated with adjuvant chemotherapy. Ann Oncol 2009; 20: 1818-23.
21. Witkiewicz A, Ertel A, McFalls J et al. RB-pathway disruption is associated with improved response to neoadjuvant chemotherapy in breast cancer. Clin Cancer Res 2012; 18: 5110-22.
22. Pollack A, Czerniak B, Zagars B et al. Retinoblastoma protein expression and radiation response in muscle-invasive bladder cancer. Int J Radiat Oncol Biol Phys 1997; 39: 687-95.
23. Agerbaeck M, Alsner J, Marcussen N et al. Retinoblastoma protein expression is an independent predictor of both radiation response and survival in muscle invasive bladder cancer. Br J Cancer 2003; 89: 298-304.
24. Zagorski W, Knudsen E, Reed M: Retinoblastoma deficiency increases chemosensitivity in lung cancer. Cancer Res 2007; 67: 8264-73.
25. Bosco E, Wang Y, Xu H et al. The retinoblastoma tumor suppressor modifies the therapeutic response of breast cancer. J Clin Invest 2007; 117: 218-28.
26. Yoo Y, Kang S, Kang Y: Cellular resistance to adriamycin conferred by enhanced Rb expression is associated with increased MDR1 expression. Biochem Biophys Res Commun 1998; 249: 6-10.
27. Moonen L, Ong F, Gallee M et al. Apoptosis, proliferation and p53, cyclin D1 and retinoblastoma gene expression in relation to radiation response in transitional cell carcinoma of the bladder. Int J Radiat Oncol Biol Phys 2001; 49: 1305-10.
28. Chakravarti A, Winter K, Wu C et al. Expression of the epidermal growth factor receptor and Her-2 are predictors of favorable outcome and reduced complete response rates, respectively, in patients with muscle-invading bladder cancers treated by concurrent radiation and cisplatinbased chemotherapy: a report from the Radiation Therapy Oncology Group Int J Radiat Oncol Biol Phys 2005; 62: 309-17.
29. Otsuka H, Funai S, Tanaka A et al. Stratification of the biologic aggressiveness of non-small cell lung cancer using DNA flow cytometry and immunohistochemistry for the retinoblastoma protein. Lung Cancer 2004; 45: 307-16.
30. Waltersson M, Askmalm M, Nordenskjold B et al. Altered expression of cyclin E and the retinoblastoma protein influences the effect of adjuvant therapy in breast cancer Int J Oncol 2009; 34: 441-8.
31. Li W, Fan J, Hochhauser D et al. Lack of functional retinoblastoma protein mediates increased resistance to antimetabolites in human sarcoma cell lines. Proc Natl Acad Sci USA 1995; 92: 10436-40.