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Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome.

Abstract

PURPOSE

Hereditary nonpolyposis colorectal cancer is a hereditary syndrome defined by personal and family history of colorectal and other cancers. Some patients with this condition have multiple serrated polyps, which are the hallmark of hyperplastic polyposis syndrome, a rare colorectal cancer syndrome characterized by multiple hyperplastic/serrated polyps and an increased risk of colorectal cancer. We hypothesized that this may represent a unique group of patients, and this study investigates a possible association between the two syndromes.

METHODS

A hereditary colorectal cancer registry was reviewed for patients who fit hereditary nonpolyposis colorectal cancer or familial colorectal cancer and hyperplastic polyposis syndrome criteria.

RESULTS

Twelve patients from seven families were identified. Four families had more than one person meeting the criteria. All patients were white, and four were women. Ten of 12 patients fit Amsterdam criteria, and two were designated with familial colorectal cancer. The median cumulative number of hyperplastic polyps resected per patient was 6, half of which were located in the right colon. Seven of the 12 patients developed colorectal cancer. Ten patients had personal or family history of other cancers: prostate, breast, testicular, salivary gland, lung, and Hodgkin's disease.

CONCLUSIONS

Patients meeting criteria for hereditary nonpolyposis colorectal cancer may also carry a diagnosis of hyperplastic polyposis syndrome. Possible explanations include: 1) two hereditary syndromes are present in the same patient, 2) serrated polyps are part of the phenotype of hereditary nonpolyposis colorectal cancer, or 3) hereditary nonpolyposis colorectal cancer is potentially misdiagnosed in some families who do, in fact, have hyperplastic polyposis.

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  • Authors+Show Affiliations

    ,

    Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

    , ,

    Source

    Diseases of the colon and rectum 52:12 2009 Dec pg 1949-55

    MeSH

    Aged
    Aged, 80 and over
    Colorectal Neoplasms
    Colorectal Neoplasms, Hereditary Nonpolyposis
    Female
    Humans
    Hyperplasia
    Intestinal Polyposis
    Male
    Middle Aged
    Phenotype
    Syndrome

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    19934914

    Citation

    Jarrar, Awad M., et al. "Is the Phenotype Mixed or Mistaken? Hereditary Nonpolyposis Colorectal Cancer and Hyperplastic Polyposis Syndrome." Diseases of the Colon and Rectum, vol. 52, no. 12, 2009, pp. 1949-55.
    Jarrar AM, Church JM, Fay S, et al. Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. Dis Colon Rectum. 2009;52(12):1949-55.
    Jarrar, A. M., Church, J. M., Fay, S., & Kalady, M. F. (2009). Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. Diseases of the Colon and Rectum, 52(12), pp. 1949-55. doi:10.1007/DCR.0b013e3181b5450c.
    Jarrar AM, et al. Is the Phenotype Mixed or Mistaken? Hereditary Nonpolyposis Colorectal Cancer and Hyperplastic Polyposis Syndrome. Dis Colon Rectum. 2009;52(12):1949-55. PubMed PMID: 19934914.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Is the phenotype mixed or mistaken? Hereditary nonpolyposis colorectal cancer and hyperplastic polyposis syndrome. AU - Jarrar,Awad M, AU - Church,James M, AU - Fay,Susan, AU - Kalady,Matthew F, PY - 2009/11/26/entrez PY - 2009/11/26/pubmed PY - 2010/1/6/medline SP - 1949 EP - 55 JF - Diseases of the colon and rectum JO - Dis. Colon Rectum VL - 52 IS - 12 N2 - PURPOSE: Hereditary nonpolyposis colorectal cancer is a hereditary syndrome defined by personal and family history of colorectal and other cancers. Some patients with this condition have multiple serrated polyps, which are the hallmark of hyperplastic polyposis syndrome, a rare colorectal cancer syndrome characterized by multiple hyperplastic/serrated polyps and an increased risk of colorectal cancer. We hypothesized that this may represent a unique group of patients, and this study investigates a possible association between the two syndromes. METHODS: A hereditary colorectal cancer registry was reviewed for patients who fit hereditary nonpolyposis colorectal cancer or familial colorectal cancer and hyperplastic polyposis syndrome criteria. RESULTS: Twelve patients from seven families were identified. Four families had more than one person meeting the criteria. All patients were white, and four were women. Ten of 12 patients fit Amsterdam criteria, and two were designated with familial colorectal cancer. The median cumulative number of hyperplastic polyps resected per patient was 6, half of which were located in the right colon. Seven of the 12 patients developed colorectal cancer. Ten patients had personal or family history of other cancers: prostate, breast, testicular, salivary gland, lung, and Hodgkin's disease. CONCLUSIONS: Patients meeting criteria for hereditary nonpolyposis colorectal cancer may also carry a diagnosis of hyperplastic polyposis syndrome. Possible explanations include: 1) two hereditary syndromes are present in the same patient, 2) serrated polyps are part of the phenotype of hereditary nonpolyposis colorectal cancer, or 3) hereditary nonpolyposis colorectal cancer is potentially misdiagnosed in some families who do, in fact, have hyperplastic polyposis. SN - 1530-0358 UR - https://www.unboundmedicine.com/medline/citation/19934914/Is_the_phenotype_mixed_or_mistaken_Hereditary_nonpolyposis_colorectal_cancer_and_hyperplastic_polyposis_syndrome_ L2 - http://Insights.ovid.com/pubmed?pmid=19934914 DB - PRIME DP - Unbound Medicine ER -