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Genomics in Pseudomyxoma Peritonei

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Pathology of Peritoneal Metastases

Abstract

Pseudomyxoma peritonei (PMP) syndrome from appendiceal mucinous tumors generically shows a favorable biologic behavior. Cytoreductive surgery plus Hyperthermic IntraPEritoneal Chemotherapy (CRS + HIPEC) is considered the standard treatment for PMP. Despite general good results in terms of overall survival, the disease-free survival and tumor relapse are not uncommon. The relapse is not related only to high-grade PMP histopathology, but often to low-grade PMP diagnosed patients. Histopathology classifications purposed in the last two decades seem not to be the more appropriate tool to predict patients’ outcome. Genomic profiling of PMP is reported by few authors and recently some evidence of a link between Gene Expression Profile (GEP) and outcome prediction of PMP patients has been demonstrated. In this chapter, we review the literature reports and describe the experience of our center about this topic.

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References

  1. Sugarbaker PH. Pseudomyxoma peritonei: a cancer whose biology is characterized by a redistribution phenomenon. Ann Surg. 1994;219:109–11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Sugarbaker PH. Peritonectomy procedures. Ann Surg. 1995;221:29–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Sugarbaker PH. Intraperitoneal chemotherapy and cytoreductive surgery for the prevention and treatment of peritoneal carcinomatosis and sarcomatosis. Semin Surg Oncol. 1998;14:254–61.

    Article  CAS  PubMed  Google Scholar 

  4. Sugarbaker PH, Chang D. Results of treatment of 385 patients with peritoneal surface spread of appendiceal malignancy. Ann Surg Oncol. 1999;6:727–31.

    Article  CAS  PubMed  Google Scholar 

  5. Sugarbaker PH, Graves T, DeBruijn EA, et al. Early postoperative intraperitoneal chemotherapy as an adjuvant therapy to surgery for peritoneal carcinomatosis from gastrointestinal cancer: pharmacological studies. Cancer Res. 1990;50:5790–4.

    CAS  PubMed  Google Scholar 

  6. Sugarbaker PH, Ronnett BM, Archer A, et al. Pseudomyxoma peritonei syndrome. Adv Surg. 1996;30:233–80.

    CAS  PubMed  Google Scholar 

  7. Bhatt A, Mishra S, Prabhu R, et al. Can low grade PMP be divided into prognostically distinct subgroups based on histological features? A retrospective study and the importance of using the appropriate classification. Eur J Surg Oncol. 2018;44:1105–11.

    Article  PubMed  Google Scholar 

  8. Fallis SA, Moran BJ. Management of pseudomyxoma peritonei. J BUON. 2015;20(Suppl 1):S47–55.

    PubMed  Google Scholar 

  9. Yan TD, Black D, Savady R, et al. A systematic review on the efficacy of cytoreductive surgery and perioperative intraperitoneal chemotherapy for pseudomyxoma peritonei. Ann Surg Oncol. 2007;14:484.

    Article  PubMed  Google Scholar 

  10. Smeenk RM, Verwaal VJ, Antonini N, et al. Survival analysis of pseudomyxoma peritonei patients treated by cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. Ann Surg. 2007;245:104.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Baratti D, Kusamura S, Nonaka D, et al. Pseudomyxoma peritonei: biological features are the dominant prognostic determinants after complete cytoreduction and hyperthermic intraperitoneal chemotherapy. Ann Surg. 2009;249:243.

    Article  PubMed  Google Scholar 

  12. Alves S, Mohamed F, Yadegarfar G, et al. Prospective longitudinal study of quality of life following cytoreductive surgery and intraperitoneal chemotherapy for pseudomyxoma peritonei. Eur J Surg Oncol. 2010;36:1156.

    Article  CAS  PubMed  Google Scholar 

  13. Chua TC, Liauw W, Morris DL. Early recurrence of pseudomyxoma peritonei following treatment failure of cytoreductive surgery and perioperative intraperitoneal chemotherapy is indicative of a poor survival outcome. Int J Color Dis. 2011;27:381.

    Article  Google Scholar 

  14. Kitai T, Kawashima M, Yamanka K, et al. Cytoreductive surgery with intraperitoneal chemotherapy to treat pseudomyxoma peritonei at nonspecialized hospitals. Surg Today. 2011;41:1219.

    Article  PubMed  Google Scholar 

  15. Elias D, Gilly F, Quenet F, et al. Pseudomyxoma peritonei: a French multicentric study of 301 patients treated with cytoreductive surgery and intraperitoneal chemotherapy. Eur J Surg Oncol. 2010;36:456.

    Article  CAS  PubMed  Google Scholar 

  16. Cioppa T, Vaira M, Bing C, et al. Cytoreduction and hyperthermic intraperitoneal chemotherapy in the treatment of peritoneal carcinomatosis from pseudomyxoma peritonei. World J Gastroenterol. 2008;14:6817.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Elias D, Honoré C, Ciuchendéa R, et al. Peritoneal pseudomyxoma: results of systematic policy of complete cytoreductive surgery and hyperthermic intraperitoneal chemotherapy. Br J Surg. 2008;95:1164.

    Article  CAS  PubMed  Google Scholar 

  18. Ronnett BM, Zahn CM, Kurman RJ, et al. Disseminated peritoneal adenomucinosis and peritoneal mucinous carcinomatosis. A clinicopathologic analysis of 109 cases with emphasis on distinguishing pathologic features, site of origin, prognosis, and relationship to “pseudomyxoma peritonei”. Am J Surg Pathol. 1995;19(12):1390–408.

    Article  CAS  PubMed  Google Scholar 

  19. Carr NJ, Sobin LH. Adenocarcinoma of the appendix. In: Bosman FT, Carneiro F, Hruban RH, et al., editors. WHO classification of tumors of the digestive system. Lyon: IARC; 2010. p. 122e5.

    Google Scholar 

  20. Carr NJ, Cecil TD, Mohamed F, et al. Consensus for classification and pathologic reporting of pseudomyxoma peritonei and associated appendiceal neoplasia. Am J Surg Pathol. 2016;40(1):14–26.

    Article  PubMed  Google Scholar 

  21. Shih IM, Yan H, Speyrer D, et al. Molecular genetic analysis of appendiceal mucinous adenomas in identical twins, including one with pseudomyxoma peritonei. Am J Surg Pathol. 2001;25(8):1095–9.

    Article  CAS  PubMed  Google Scholar 

  22. Maheshwari V, Tsung A, Lin Y, et al. Analysis of loss of heterozygosity for tumor-suppressor genes can accurately classify and predict the clinical behavior of mucinous tumors arising from the appendix. Ann Surg Oncol. 2006;13(12):1610–6.

    Article  PubMed  Google Scholar 

  23. Nishikawa G, Sekine S, Ogawa R, et al. Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms. Br J Cancer. 2013;108:951–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Liu X, Mody K, de Abreu FB, et al. Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations. Clin Chem. 2014;60(7):1004–11.

    Article  CAS  PubMed  Google Scholar 

  25. Noguchi R, Yano H, Gohda Y, et al. Molecular profiles of high-grade and low-grade pseudomyxoma peritonei. Cancer Med. 2015;4(12):1809–16.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Nummela P, Saarinen L, Thiel A, et al. Genomic profile of pseudomyxoma peritonei analyzed using next-generation sequencing and immunohistochemistry. Int J Cancer. 2015;136:E282–9.

    Article  CAS  PubMed  Google Scholar 

  27. Pietrantonio F, Perrone F, Mennitto A, et al. Toward the molecular dissection of peritoneal pseudomyxoma. Ann Oncol. 2016;27:2097–103.

    Article  CAS  PubMed  Google Scholar 

  28. Borazanci E, Millis SZ, Kimbrough J, et al. Potential actionable targets in appendiceal cancer detected by immunohistochemistry, fluorescent in situ hybridization, and mutational analysis. J Gastrointest Oncol. 2017;8(1):164–72.

    Article  PubMed  PubMed Central  Google Scholar 

  29. Saarinen L, Nummela P, Thiel A, et al. Multiple components of PKA and TGF-β pathways are mutated in pseudomyxoma peritonei. PLoS One. 2017;12(4):e0174898. https://doi.org/10.1371/journal.pone.0174898.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Gleeson EM, Feldman R, Mapow BL, et al. Appendix-derived pseudomyxoma peritonei (PMP) molecular profiling toward treatment of a rare malignancy. Am J Clin Oncol. 2018;41:777–83.

    Article  CAS  PubMed  Google Scholar 

  31. Sio TT, Mansfield AS, Grotz TE, et al. Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis. J Hum Genet. 2014;59:124–8.

    Article  CAS  PubMed  Google Scholar 

  32. Roberts DL, O’Dwyer ST, Stern PL, et al. Global gene expression in pseudomyxoma peritonei, with parallel development of two immortalized cell lines. Oncotarget. 2015;6(13):10786–800.

    Article  PubMed  PubMed Central  Google Scholar 

  33. Levine EA, Blazer DG, Kim MK, et al. Gene expression profiling of peritoneal metastases from appendiceal and colon cancer demonstrates unique biologic signatures and predicts patient outcomes. J Am Coll Surg. 2012;214(4):599–607.

    Article  PubMed  PubMed Central  Google Scholar 

  34. Levine EA, Votanopoulos KI, Qasem SA, et al. Prognostic molecular subtypes of low-grade cancer of the appendix. J Am Coll Surg. 2016;222(4):493–503.

    Article  PubMed  Google Scholar 

  35. Isella C, Terrasi A, Bellomo SE, et al. Stromal contribution to the colorectal cancer transcriptome. Nat Genet. 2015;47(4):312–9.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Unit of Surgical Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, TO, Italy

    Marco Vaira, Michele De Simone, Manuela Robella & Alice Borsano

  2. Oncogenomics, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, TO, Italy

    Claudio Isella & Enzo Medico

Authors
  1. Marco Vaira
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  2. Claudio Isella
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  3. Michele De Simone
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  4. Manuela Robella
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  5. Alice Borsano
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  6. Enzo Medico
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Correspondence to Marco Vaira .

Editor information

Editors and Affiliations

  1. General and Oncologique Surgery, Centre Hospitalier Lyon-Sud, Lyon, France

    Olivier Glehen

  2. Department of Surgical Oncology, Zydus Hospital, Ahmedabad, India

    Aditi Bhatt

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Vaira, M., Isella, C., De Simone, M., Robella, M., Borsano, A., Medico, E. (2020). Genomics in Pseudomyxoma Peritonei. In: Glehen, O., Bhatt, A. (eds) Pathology of Peritoneal Metastases. Springer, Singapore. https://doi.org/10.1007/978-981-15-3773-8_8

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  • DOI: https://doi.org/10.1007/978-981-15-3773-8_8

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  • Publisher Name: Springer, Singapore

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  • Online ISBN: 978-981-15-3773-8

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