今日の臨床サポート

消化管ポリポーシス

著者: 高山哲治 徳島大学大学院医歯薬学研究部 消化器内科学

監修: 上村直実 国立国際医療研究センター 国府台病院

著者校正/監修レビュー済:2016/06/30
患者向け説明資料

概要・推奨   

疾患のポイント:
  1. 消化管ポリポーシスとは、同一の組織像を呈するポリープが消化管に多発する疾患群の総称である。
  1. その組織像から、腺腫性ポリポーシス、過誤腫性ポリポーシス、炎症性ポリポーシス、化生性ポリポーシス、その他に大別される。
  1. ポリープの発生部位は胃・十二指腸・小腸・大腸の広範囲に及ぶことが多い
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薬剤監修について:
オーダー内の薬剤用量は日本医科大学付属病院 薬剤部 部長 伊勢雄也 以下、林太祐、渡邉裕次、井ノ口岳洋、梅田将光による疑義照会のプロセスを実施、疑義照会の対象については著者の方による再確認を実施しております。
※薬剤中分類、用法、同効薬、診療報酬は、エルゼビアが独自に作成した薬剤情報であり、
著者により作成された情報ではありません。
尚、用法は添付文書より、同効薬は、薬剤師監修のもとで作成しております。
※薬剤情報の(適外/適内/⽤量内/⽤量外/㊜)等の表記は、エルゼビアジャパン編集部によって記載日時にレセプトチェックソフトなどで確認し作成しております。ただし、これらの記載は、実際の保険適用の査定において保険適用及び保険適用外と判断されることを保証するものではありません。また、検査薬、輸液、血液製剤、全身麻酔薬、抗癌剤等の薬剤は保険適用の記載の一部を割愛させていただいています。
(詳細はこちらを参照)
著者のCOI(Conflicts of Interest)開示:
高山哲治 : 特に申告事項無し[2021年]
監修:上村直実 : 未申告[2021年]

病態・疫学・診察

疾患情報(疫学・病態)  
  1. 同一組織像のポリープが消化管に多発する疾患群の総称であり、ポリープの組織像と遺伝性の有無により分類されている。
  1. 大腸に好発する傾向はあるが、大部分の疾患で食道以外の消化管に多発性病変が発生する。
  1. ポリープの発生部位は胃、十二指腸、小腸、大腸の広範囲に及ぶことが多い。
  1. ポリープの数による厳密な定義はないが、ほぼ100個以上を有することが多い。
  1. 種々の疾患の原因遺伝子が同定され、変異部位と症状の関連が注目されている。全身の悪性腫瘍の高危険群でもある。
問診・診察のポイント  
  1. 遺伝性消化管ポリポーシスでは問診のなかでも家族歴および既往歴の聴取が重要であり、当該疾患のみならず悪性腫瘍についても確認することが重要である。
  1. 消化管外徴候として身体所見を入念にチェックする。

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文献 

著者: Kevin Sweet, Joseph Willis, Xiao-Ping Zhou, Carol Gallione, Takeshi Sawada, Pia Alhopuro, Sok Kean Khoo, Attila Patocs, Cossette Martin, Scott Bridgeman, John Heinz, Robert Pilarski, Rainer Lehtonen, Thomas W Prior, Thierry Frebourg, Bin Tean Teh, Douglas A Marchuk, Lauri A Aaltonen, Charis Eng
雑誌名: JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.294.19.2465.
Abstract/Text CONTEXT: Significant proportions of patients with hamartomatous polyposis or with hyperplastic/mixed polyposis remain without specific clinical and molecular diagnosis or present atypically. Assigning a syndromic diagnosis is important because it guides management, especially surveillance and prophylactic surgery.
OBJECTIVE: To systematically classify patients with unexplained hamartomatous or hyperplastic/mixed polyposis by extensive molecular analysis in the context of central rereview of histopathology results.
DESIGN, SETTING, AND PATIENTS: Prospective, referral-based study of 49 unrelated patients from outside institutions (n = 28) and at a comprehensive cancer center (n = 21), conducted from May 2, 2002, until December 15, 2004. Germline analysis of PTEN, BMPR1A, STK11 (sequence, deletion), SMAD4, and ENG (sequence), specific exon screening of BRAF, MYH, and BHD, and rereview of polyp histology results were performed.
MAIN OUTCOME MEASURES: Molecular, clinical, and histopathological findings in patients with unexplained polyposis.
RESULTS: Of the 49 patients, 11 (22%) had germline mutations. Of 14 patients with juvenile polyposis, 2 with early-onset disease had mutations in ENG, encoding endoglin, previously only associated with hereditary hemorrhagic telangiectasia; 1 had hemizygous deletion encompassing PTEN and BMPR1A; and 1 had an SMAD4 mutation. One individual previously classified with Peutz-Jeghers syndrome had a PTEN deletion. Among 9 individuals with an unknown hamartomatous polyposis, 4 had mutations in STK11 (1), BMPR1A (2), and SMAD4 (1). Of the 23 patients with hyperplastic/mixed polyposis, 2 had PTEN mutations. Substantial discrepancies in histopathology results were seen.
CONCLUSIONS: Systematic molecular classification of 49 patients with unexplained hamartomatous or hyperplastic polyposis uncovered a potential novel susceptibility gene, ENG, for juvenile polyposis. Importantly, given the substantial proportion of patients found to have germline mutations, more extensive analysis of the known susceptibility genes is indicated. Rereview of histology results by a dedicated gastrointestinal pathologist should be considered routinely, as organ-specific surveillance rests on defining syndromic diagnosis.

PMID 16287957  JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.29・・・
著者: L Spirio, S Olschwang, J Groden, M Robertson, W Samowitz, G Joslyn, L Gelbert, A Thliveris, M Carlson, B Otterud
雑誌名: Cell. 1993 Dec 3;75(5):951-7.
Abstract/Text An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles responsible for this attenuated phenotype have been mapped in several families to the adenomatous polyposis coli (APC) locus on human chromosome 5q. Four distinct mutations in the APC gene have now been identified in seven AAPC families. These mutations that predict truncation products, either by single base pair changes or frameshifts, are similar to mutations identified in families with classical APC. However, they differ in that the four mutated sites are located very close to one another and nearer the 5' end of the APC gene than any base substitutions or small deletions yet discovered in patients with classical APC.

PMID 8252630  Cell. 1993 Dec 3;75(5):951-7.
著者: Oliver M Sieber, Lara Lipton, Michael Crabtree, Karl Heinimann, Paulo Fidalgo, Robin K S Phillips, Marie-Luise Bisgaard, Torben F Orntoft, Lauri A Aaltonen, Shirley V Hodgson, Huw J W Thomas, Ian P M Tomlinson
雑誌名: N Engl J Med. 2003 Feb 27;348(9):791-9. doi: 10.1056/NEJMoa025283.
Abstract/Text BACKGROUND: Germ-line mutations in the base-excision-repair gene MYH have been associated with recessive inheritance of multiple colorectal adenomas. Tumors from affected persons displayed excess somatic transversions of a guanine-cytosine pair to a thymine-adenine pair (G:C-->T:A) in the APC gene.
METHODS: We screened for germ-line MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC-mutation-negative probands with classic familial adenomatous polyposis (>100 adenomas). Subgroups were analyzed for changes in the related genes MTH1 and OGG1. Adenomas were tested for somatic APC mutations.
RESULTS: Six patients with multiple adenomas and eight patients with polyposis had biallelic germline MYH variants. Missense and protein-truncating mutations were found, and the spectrums of mutations were very similar in the two groups of patients. In the tumors of carriers of biallelic mutations, all somatic APC mutations were G:C-->T:A transversions. In the group with multiple adenomas, about one third of patients with more than 15 adenomas had biallelic MYH mutations. In the polyposis group, no patient with biallelic MYH mutations had severe disease (>1000 adenomas), but three had extracolonic disease. No clearly pathogenic MTH1 or OGG1 mutations were identified.
CONCLUSIONS: Germ-line MYH mutations predispose persons to a recessive phenotype, multiple adenomas, or polyposis coli. For patients with about 15 or more colorectal adenomas--especially if no germ-line APC mutation has been identified and the family history is compatible with recessive inheritance--genetic testing of MYH is indicated for diagnosis and calculation of the level of risk in relatives. Clinical care of patients with biallelic MYH mutations should be similar to that of patients with classic or attenuated familial adenomatous polyposis.

Copyright 2003 Massachusetts Medical Society
PMID 12606733  N Engl J Med. 2003 Feb 27;348(9):791-9. doi: 10.1056/NE・・・
著者: S R Hamilton, B Liu, R E Parsons, N Papadopoulos, J Jen, S M Powell, A J Krush, T Berk, Z Cohen, B Tetu
雑誌名: N Engl J Med. 1995 Mar 30;332(13):839-47. doi: 10.1056/NEJM199503303321302.
Abstract/Text BACKGROUND: Turcot's syndrome is characterized clinically by the concurrence of a primary brain tumor and multiple colorectal adenomas. We attempted to define the syndrome at the molecular level.
METHODS: Fourteen families with Turcot's syndrome identified in two registries and the family originally described by Turcot and colleagues were studied. Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer. In addition, a formal risk analysis for brain tumors in familial adenomatous polyposis was performed with a registry data base.
RESULTS: Genetic abnormalities were identified in 13 of the 14 registry families. Germ-line APC mutations were detected in 10. The predominant brain tumor in these 10 families was medulloblastoma (11 of 14 patients, or 79 percent), and the relative risk of cerebellar medulloblastoma in patients with familial adenomatous polyposis was 92 times that in the general population (95 percent confidence interval, 29 to 269; P < 0.001). In contrast, the type of brain tumor in the other four families was glioblastoma multiforme. The glioblastomas and colorectal tumors in three of these families and in the original family studied by Turcot had replication errors characteristic of hereditary nonpolyposis colorectal cancer. In addition, germ-line mutations in the mismatch-repair genes hMLH1 or hPMS2 were found in two families.
CONCLUSIONS: The association between brain tumors and multiple colorectal adenomas can result from two distinct types of germ-line defects: mutation of the APC gene or mutation of a mismatch-repair gene. Molecular diagnosis may contribute to the appropriate care of affected patients.

PMID 7661930  N Engl J Med. 1995 Mar 30;332(13):839-47. doi: 10.1056/・・・
著者: I P Tomlinson, R S Houlston
雑誌名: J Med Genet. 1997 Dec;34(12):1007-11.
Abstract/Text Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly interesting. Recently, the PJS gene has been mapped to chromosome 19p13.

PMID 9429144  J Med Genet. 1997 Dec;34(12):1007-11.
著者: J R Jass, C B Williams, H J Bussey, B C Morson
雑誌名: Histopathology. 1988 Dec;13(6):619-30.
Abstract/Text Clinical and pathological findings in 87 patients with juvenile polyposis have been reviewed; 1032 polyps were available from 80 of these patients; 840 were typical spherical juvenile polyps whereas 169 differed in being multilobulated or showing a villous configuration; 79 (46.7%) of the latter contained foci of epithelial dysplasia whereas only 76 (9.0%) of the typical juvenile polyps were dysplastic. The series also included 21 adenomas and two hyperplastic (metaplastic) polyps. The demonstration of dysplasia provides a histogenetic mechanism for the evolution of colorectal cancer from hamartomatous polyps; 18 juvenile polyposis patients have developed colorectal cancer at a mean age of 34 years (range 15-59). The clinical outcome was generally poor. No clinical or pathological distinction could be made between polyposis patients with and without colorectal cancer. Thus, the development of cancer in juvenile polyposis appears to be a random event. A working definition of juvenile polyposis is provided: (1) more than five juvenile polyps of the colorectum; and/or (2) juvenile polyps throughout the gastrointestinal tract; and/or (3) any number of juvenile polyps with a family history of juvenile polyposis. It is suggested that the condition should be treated as seriously as familial adenomatous polyposis except that regular colonoscopic surveillance may obviate the need for prophylactic colectomy.

PMID 2853131  Histopathology. 1988 Dec;13(6):619-30.
著者: C Eng
雑誌名: J Med Genet. 2000 Nov;37(11):828-30.
Abstract/Text
PMID 11073535  J Med Genet. 2000 Nov;37(11):828-30.
著者: E S Roach, M R Gomez, H Northrup
雑誌名: J Child Neurol. 1998 Dec;13(12):624-8.
Abstract/Text At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for tuberous sclerosis complex. Accordingly, the clinical and radiographic features of tuberous sclerosis complex have now been divided into major and minor categories based on the apparent degree of specificity for tuberous sclerosis complex of each feature. A definitive diagnosis of tuberous sclerosis complex now requires two or more distinct types of lesions, rather than multiple lesions of the same type in the same organ system. Although diagnosis on purely clinical grounds can continue to be difficult in a few patients, there should be little doubt about the diagnosis for those individuals who fulfill these strict criteria. Couples with more than one child with tuberous sclerosis complex, no extended family history, and no clinical features of tuberous sclerosis complex are more likely to have germline mosaicism for tuberous sclerosis than nonexpression of the mutation. Germline mosaicism, while fortunately rare, will not be suspected from either diagnostic criteria or molecular testing until a couple has multiple affected children. Genetic counseling for families with one affected child should include a small (1% to 2%) possibility of recurrence, even for parents who have no evidence of tuberous sclerosis complex after a thorough diagnostic evaluation.

PMID 9881533  J Child Neurol. 1998 Dec;13(12):624-8.

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