Skip to main content

Advertisement

Log in

Incidence, clinical features and possible etiology of early onset (≤40 years) colorectal neoplasms

  • IM - ORIGINAL
  • Published:
Internal and Emergency Medicine Aims and scope Submit manuscript

Abstract

The aim of the study was to investigate the clinical features, including survival, of patients with colorectal malignancies developed at a very early age (≤40 years), together with possible factors involved in the pathogenesis of these rare neoplasms. The study took advantage of the existence of a specialized colorectal cancer Registry active from 1984. 57 patients met the criteria of early onset cancer; main epidemiological data, morphology, stage, familial aggregation, possible role of inheritance and survival were analyzed. Despite the relevant increase over time of all registered patients, joiningpoint analysis of crude incidence rate of early onset colorectal neoplasms revealed a certain stability of these tumors (EAPC: 2.4, CI 14–22) with a constant prevalence of the male sex. Stage at diagnosis did not show significant variations between early onset and maturity onset colorectal neoplasms. Hereditary as well as familial cases were significantly (P < 0.005 and 0.03) more frequent among patients with early onset tumors, although in the majority of them no specific etiological factor could be identified. Survival was more favorable in patients with early onset tumors, though this had to be attributed to the higher presence of some histological types in early onset cases. Survival was significantly more favorable for patients of all ages registered in the last decade. Incidence of early onset colorectal cancer was relatively stable between 1984 and 2008. A male preponderance was evident through the registration period. Hereditary and familial cases were significantly more frequent among early onset case. A well defined etiology could be observed in 16 % of the cases (versus 2–3 % in older individuals). Five-year survival showed a significant improvement over time.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Center MM, Jemal A, Ward E (2009) International trends in colorectal cancer incidence rates. Cancer Epidemiol Biomarkers Prev 18:1688–1694

    Article  PubMed  Google Scholar 

  2. Church TC (2011) Screening for colorectal cancer-which strategy is the best? JNCI 7:103

    Google Scholar 

  3. Miller S, Steele S (2012) Novel molecular screening approaches in colorectal cancer. J Surg Onol 105:459–467

    CAS  Google Scholar 

  4. Sigel RL, Jemal A, Ward EM (2009) Increase in incidence of colorectal cancer among young men and women in United States. Cancer Epidemiol Biomarkers Prev 18:3

    Google Scholar 

  5. Meyer JE, Narang T, Schnoll-Sussman FH, Pochapin MB, Christos PJ, Sherr DL (2010) Increasing incidence of rectal cancer in patients aged younger than 40 years: an analysis of the surveillance, epidemiology, and end results database. Cancer 15:4354–4358

    Article  Google Scholar 

  6. Ganapathi S, Kumar D, Katsoulas N, Melville D, Hodgson S, Finlayson C et al (2011) Colorectal cancer in the young: trend, characteristics and outcome. Int J Colorectal Dis 26:927–934

    Article  PubMed  Google Scholar 

  7. Fairley TL, Cardinez CJ, Martin J, Alley L, Friedman C, Edwards B et al (2006) Colorectal cancer in U.S adults younger than 50 years of age, 1998–2001. Cancer 107(5 Suppl):1153–1161

    Article  PubMed  Google Scholar 

  8. Griffin PM, Liff JM, Greenberg RS, Clark WS (1991) Adenocarcinomas of the colon and rectum in persons under 40 years old. Gastroenterology 100:1033–1040

    CAS  PubMed  Google Scholar 

  9. Losi L, Di Gregorio C, Pedroni M, Ponti G, Roncucci L, Scarselli A, Genuardi M et al (2005) Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. Am J Gastroenterol 100:2280–2287

    Article  CAS  PubMed  Google Scholar 

  10. Bleyer A, Barr R (2009) Cancer in young adults 20 to 39 of age: overview. Semin Surg Oncol 36:194–206

    Article  Google Scholar 

  11. Gallie BL, Squire JA, Goddard A, Dunn JM, Canton M, Hinton D et al (1990) Mecchanism of oncogenesis in retinoblastoma. Biol Dis 62:394–408

    CAS  Google Scholar 

  12. Gass KH, Graden J (2000) Biology of the adenomatous polyposis coli tumor suppressor. J Clin Oncol 18:1967–1979

    Google Scholar 

  13. Ponz de Leon M, Sassatelli R, Sacchetti C, Zanghieri G, Scalmati A, Roncucci L (1989) Familial aggregation of tumors in the three-year experience of a population-based colorectal cancer registry. Cancer Res 49:4344–4348

    CAS  PubMed  Google Scholar 

  14. Benatti P, Sassatelli R, Roncucci L, Pedroni M, Fante R, Di Gregorio C et al (2003) Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with “suspected HNPCC”. A population-based study in Northern Italy. Int J Cancer 54:371–377

    Article  Google Scholar 

  15. Ponz de Leon M, Marino M, Benatti P, Rossi G, Menigatti M, Pedroni M et al (2004) Trend of incidence, subsite distribution and staging of colorectal neoplasms in the 15-year experience of a specialised cancer registry. Ann Oncol 15:940–946

    Article  CAS  PubMed  Google Scholar 

  16. Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L et al (2004) Genetic testing among high-risk individuals in families with hereditary non polyposis colorectal cancer. Br J Cancer 90:882–887

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  17. Bosman FT, Craneiro F, Hruban RH, Theise ND (2010) WHO classification of tumors of the digestive system. International Agency for Research on Cancer, Lyon

    Google Scholar 

  18. Sobin LH, Gospodarowichz MK, Wittekind C (2009) UICC unione internazionale contro il cancro-TNM classificazione dei tumori maligni—settima edizione

  19. Hutter RVP, Sobin LH (1986) A universal staging system for cancer of the colon and rectum. Let there be light. Arch Pathol Lab Med 110:367–368

    CAS  PubMed  Google Scholar 

  20. Rilke F (1983) ICD-O. Classificazione Internazionale delle malattie. Oncologia. WHO. Rivista di Istocitopatologia. 5

  21. SNOMED (1982) Systematized Nomenclature of Medicine, 2nd edn. College of American Pathologists

  22. Ponz de Leon M, Antonioli A, Ascari A, Zanghieri G, Sacchetti C (1987) Incidence and familial occurrence of colorectal cancer and polyps in a health-care district of northern Italy. Cancer 60:2848–2859

    Article  CAS  PubMed  Google Scholar 

  23. Ponz de Leon M, Benatti P, Borghi F, Pedroni M, Scarselli A, Di Gregorio C et al (2004) Aetiology of colorectal cancer and relevance of monogenic inheritance. Gut 53:115–122

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  24. Pedroni M, Sala E, Scarselli A, Borghi F, Menigatti M, Benatti P et al (2001) Microsatellite instability and mismatch-repair protein expression in Hereditary and Sporadic colorectal carcinogenesis. Cancer Res 61:896–899

    CAS  PubMed  Google Scholar 

  25. Pezzi A, Roncucci L, Benatti P, Sassatelli R, Varesco L, Di Gregorio C et al (2009) Relative role of APC and MuTYH mutations in the pathogenesis of familial adenomatous polyposis. Scand J Gastroentorol 44:1092–1100

    Article  CAS  Google Scholar 

  26. Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG et al (2011) Integrated analysis of unclassified variants in mismatch repair genes. Gen Med 13:115–124

    Article  Google Scholar 

  27. Kim HJ, Fay MP, Feuer EJ, Midthune DN (2000) Permutation texts joinpoint regression with applications to cancer rates. Stat Med 19:335–351

    Article  CAS  PubMed  Google Scholar 

  28. Linabery AM, Ross JA (2008) Trends in childhood cancer incidence in the U.S. (1992-2004). Cancer 15:416–432

    Article  Google Scholar 

  29. Rim SH, Seeff L, Ahmed F, King JB, Coughlin SS (2009) Colorectal cancer incidence in the United States, 1999–2004. Cancer 115(9):1967–1976

    Article  PubMed  Google Scholar 

  30. Capocaccia R, De Angelis R, Frova L, Gatta G, Sant M, Micheli A et al (1997) Estimation and projections of colorectal cancer trends in Italy. Int J Epidemiol 26(5):924–932

    Article  CAS  PubMed  Google Scholar 

  31. Parikh-Patel A, Bates JH, Campleman S (2006) Colorectal cancer stage at diagnosis by socioeconomic and urban/rural status in California, 1988-2000. Cancer 107(5 Suppl):1189–1195

    Article  PubMed  Google Scholar 

  32. Mitry E, Benhamiche AM, Jouve JL, Clinard F, Finn-Faivre C, Faivre J (2001) Colorectal adenocarcinoma in patients under 45 years of age: comparison with older patients in a well-defined french population. Dis Colon Rectum 44:380–387

    Article  CAS  PubMed  Google Scholar 

  33. Parramore JB, Wei JP, Yeh KA (1998) Colorectal cancer in patients under forty: presentation and outcome. Am Surg 64(6):563–567

    CAS  PubMed  Google Scholar 

  34. Mayble K, Banerjee S, Greenwald L (1992) Colorectal carcinoma in young patients. J Surg Oncol 51:179–182

    Article  Google Scholar 

  35. Terdiman JP (2005) Colorectal cancer at a young age. Gastroenterology 128:1067–1076

    Article  PubMed  Google Scholar 

  36. Bleyer A, Barr R, Hayes-Lattin B (2008) The distinctive biology of cancer in adolescents and young adults. Nature 8:288–298

    CAS  Google Scholar 

  37. Ponz de Leon M, Pezzi A, Benatti P (2009) Survival, surgical management and perioperative mortality of colorectal cancer in the 21-year experience of specialised registry. Int J Colorectal Dis 24:777–788

    Article  Google Scholar 

  38. Storli KE, Søndenaa K, Buklholm IRK, Nesvik I (2011) Overall survival after resection for colon cancer in a national cohort study was adversely affected by TNM stage, lymph node ratio, gender, and old age. Int J Colorectal Dis 26:1299–1307

    Article  PubMed Central  PubMed  Google Scholar 

  39. Parsons HM, Tuttle TM, Kuntz KM, Begun JW, McGovern PM et al (2011) Association between lymph node evaluation for colon cancer and node positivity over the past 20 years. JAMA 306:1089–1097

    Article  CAS  PubMed  Google Scholar 

  40. Meyerhardt JA, Mayer RJ (2005) Systemic therapy for colorectal cancer. N Engl J Med 352:476–487

    Article  CAS  PubMed  Google Scholar 

  41. Kersseboom R, Dubbink HJ, Corver WE, van Tilburg AJ, Poley JW, van Leerdam ME et al (2012) PTEN in colorectal cancer: a report on two Cowden syndrome patients. Clin Genet 81:555–562

    Article  CAS  PubMed  Google Scholar 

  42. Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C (2010) Frequent gastrointestestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 139:1927–1933

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  43. Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA et al (2011) A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 88:42–56

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  44. Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD et al (2008) The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135:419–428

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  45. Huth C, Kloor M, Voigt AY, Bozukova G, Evers C, Gaspar H et al (2012) The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. Mod Pat 25:911–916

    Article  CAS  Google Scholar 

  46. Latchford AR, Phillips RKS (2011) Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer 10:455–461

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This work has been carried out with the financial support of AIRC (Associazione Italiana Ricerca Cancro). Francesco Mariani was supported by a grant from Fondazione Umberto Veronesi. Thanks are also due to the Regione Emilia Romagna and to the Fondazione Cassa di Risparmio (Modena) for generous support. ALTEG (fondata da G. Ratti). Parts of this work have been presented at the X° meeting of AIFEG (Italian Association for the studies of Hereditary Tumors), Padova 8–9 October 2012. This work has been presented at the XVII meeting of AIRTUM (Italian Association Registers of Tumors), Bolzano 20-22 Mar 2013.

Conflict of interest

None.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Maurizio Ponz de Leon.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Domati, F., Maffei, S., Kaleci, S. et al. Incidence, clinical features and possible etiology of early onset (≤40 years) colorectal neoplasms. Intern Emerg Med 9, 623–631 (2014). https://doi.org/10.1007/s11739-013-0981-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11739-013-0981-3

Keywords

Navigation