Familial polyposis of the colon

Summary Karyotypes in leukocytes in peripheral blood were normal in seven of eight patients with familial polyposis of the colon, with or without extracolonic manifestations. The eighth patient in the study had an XXY abnormality and Klinefelter’s syndrome. This finding of an XXY male with familial polyposis is probably a chance occurrence and not related to the familial polyposis of the colon. The extra chromosome did not appear to alter the clinical findings of familial polyposis, the free urinary amino-acid excretion, or the urinary polarographic findings in this patient, relative to the findings in a brother with polyposis and a normal karyotype. The grandfather of the patient with familial polyposis and Klinefelter’s syndrome apparently had developed the genotype as a spontaneous mutation.     

Lymphomatous polyposis of the colon

Lymphoma of the colon is rare and has different radiographic presentations. The least common of these presentations is diffuse polyposis. Here we describe 4 cases of diffuse lymphomatous polyposis of the colon, each having a distinct radiographic appearance.     

Filiform polyposis of the colon

Summary Filiform polyposis of the colon is characterized by multitudinous wormlike projections of mucosa and submucosa, and it has only previously been reported to be an unusual sequel to a prior limited episode of ulcerative colitis. The first reported instance complicating a 16-year course of typical transmural colitis (Crohn's disease) suggests that this benign proliferation may be a nonspecific submucosal response to two separated, but closely subadjacent zones of submucosal inflammation in either type of colitis. Although few cases of filiform polyposis are available for review, there has been no instance associated with carcinoma. The entity in itself does not represent an indication for colectomy.     

Phenotypic and molecular characteristics of hyperplastic polyposis

BACKGROUND & AIMS: Patients with hyperplastic polyposis are reported to have multiple and/or large hyperplastic polyps (HPs) and an increased risk of colorectal cancer, but the phenotype and genetic alterations in hyperplastic polyposis have not been studied in detail. METHODS: We evaluated clinical-pathological and molecular characteristics of 129 HPs, 6 serrated adenomas, and 3 admixed hyperplastic-adenomatous polyps from 13 patients with hyperplastic polyposis (more than 20 HPs), 5 patients with a large HP (>/=1 cm in diameter), and 5 patients with multiple HPs (5-10 HPs). RESULTS: HPs in the right colon in contrast to the left colorectum had more frequent topographic dysregulation of p21(Waf-1/Cip1) expression (94% vs. 76%, P = 0.03) and of proliferation (92% vs. 53%, P = 0. 0001), but less frequent allelic loss of chromosome 1p (4% vs. 17%, P = 0.03). K-ras mutation was present in 8% of HPs, p53 gene product overexpression in none, and microsatellite instability in 3% without relationship to microsatellite instability in synchronous cancer. Patients with a large HP differed from those with multiple HPs in having a high frequency of right-sided HP (63% vs. 22%, P = 0.01) and of right-sided colon cancer (100% vs. 8%, P = 0.003). Hyperplastic polyposis was associated with a family history of colorectal cancer (P = 0.01) and with loss of chromosome 1p in HP (21% vs. 0%, P = 0.001). CONCLUSIONS: A hyperplastic polyp/dysplasia-to-adenocarcinoma sequence can be manifested in 3 distinct phenotypes consisting of patients with hyperplastic polyposis and chromosome 1p allelic loss in some HPs, in contrast to patients who have large, right-sided HPs or small numbers of HPs that lack 1p loss.     

家族性结肠息肉病

家族性结肠息肉病 (ｆａｍｉｌｉａｌｐｏｌｙｐｏｓｉｓｃｏｌｉ,ＦＰＣ)由Ｍｅｎｚｅｌ172 1年首先报告 ,有多种繁简不一的名称 ,如 :家族性多发性大肠息肉病 ,家族性结肠腺瘤样息肉病 ,家族性腺瘤病 ,结肠息肉病等。我国第二次结肠癌会议分类称之为非家族性多发性腺瘤病 ,似强调非家族性 ,而多发与腺瘤病有重叠之疑。大部分名称突出了本病的三个特点 ,生物学特性———与遗传关系密切 (家族性 ) ,病变部位 (结肠 ,准确地说应为结、直肠 ) ,病理性质 (腺瘤 ,多发称腺瘤病 )。1　流行病学　　ＦＰＣ属常染色体显性遗传 ,父母均可遗传 ,下代…     

Benign lymphoid polyposis of the colon

A new case of benign lymphoid polyposis of the colon in an adult is presented. Relatively frequent in childhood, this disease remains exceptional in adults. The main concern is differentiation from adenomatous polyposis; the differential diagnosis can be particularly difficult for complex forms of polyposis with coexistent adenomatous and lymphoid polyps. Benign lymphoid polyposis of the colon does not appear to have any propensity for malignant degeneration, and major surgical resection is not indicated.

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Résumé Un nouveau cas de polypose lymphoïde bénigne du colon chez un adulte est présenté. Relativement fréquente dans l'enfance cette maladie demeure exceptionnelle chez l'adulte. Le problème principal est la différenciation d'avec une polypose adénomateuse. Le diagnostic différentiel peut être particulièrement difficile pour des formes complexes de polyposes mixtes avec des polypes adénomateux et lymphoïdes. La polypose lymphoïde bénigne du colon n'apparait pas avoir une tendance à la dégénérescence maligne et des résections chirurgicales majeures ne sont pas indiquées.

     

Giant hyperplastic polyps of the gastric remnant simulating carcinoma

Large hyperplastic polyps of the gastric remnant were detected in 2 male patients who had undergone Billroth II gastrojejunostomy for peptic ulcer disease 13 and 18 years earlier. Both patients presented with iron deficiency anemia due to chronic occult gastrointestinal bleeding. The clinical and radiographic findings were initially suggestive of gastric stump malignancy, and one of the resected hyperplastic polyps contained foci of carcinoma in situ. We illustrate the radiographic and pathologic features of these lesions together with a review of the pertinent literature.     

Association of hyperplastic polyposis syndrome, colorectal cancer and meningioma

Recent research has provided compelling evidence that a subset of hyperplastic polyps may be associated with a risk of colorectal cancer. Colorectal cancer with extracolonic manifestation is usually seen in a hereditary syndrome setting, but some association with meningioma has been reported. The association of colorectal cancer with hyperplastic polyposis and meningioma is extremely rare. This report in a 57-year-old female with no family history of colon cancer or polyps, could be the first case of hyperplastic polyposis syndrome, colorectal cancer and meningioma. Hyperplastic polyposis syndrome was diagnosed as per WHO criteria at the time of colon cancer diagnosis. Within 4 months of colon cancer diagnosis she developed seizures. Imaging of the brain revealed meningioma of the left cerebellopontine angle. The patient underwent surgery followed by chemotherapy.     

Giant diverticulum of the sigmoid colon

While diverticulosis of the colon is a relatively common disease, a solitary giant diverticulum (GD) of the sigmoid is rare. Although there exist some theories about the formation of a GD, none is really conclusive. Sym[toms are similar to diverticular disease, and diagnosis is easy with the aid of radiology. Early surgical treatment is necessary since the complication rate is high (19%).

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Résumé Alors que la diverticulose du côlon est une affection relativement fréquente, un diverticule solitaire géant du sigmoïde est relativement rate. Une revue de la littérature nous a permis de retrouver 70 publications à propos de cette entité rare. Bien qu'il existe plusieurs théories quant à la formation des diverticules géants, aucune de celle-ci n'est réellement satisfaisante. Les symptômes sont analogues à ceux d'une maladie diverticulaire; le diagnostic est le plus souvent facile avec l'aide de la radiologie. Un traitement chirurgical doit être réalisé dès que le diagnostic est posé en raison du taux élevé de complications (19%).

     

幼年性结肠息肉与幼年性结肠息肉病

1　幼年性息肉　　幼年性息肉属错构瘤性息肉 ,所谓错构瘤系指正常组织异常增生而成瘤样改变 ,它与炎性息肉、增生性息肉皆为非肿瘤性息肉。 1957年由Ｈｏｒｒｉｌｌｅｎｏ命名为ＪｕｖｅｎｉｌｅＰｏｌｙｐ。Ｈｏｒｒｉｌｌｅｎｏ等报告幼年性息肉占小儿住院的 0 0 75% ,由于有腺管囊性扩张之特征 ,从而称其为贮留性息肉。1 1　幼年性息肉的组织学　腺管呈囊性扩张 ,充满粘液及中性白细胞 ,细胞间质中细胞成分丰富 ,有淋巴细胞、中性粒细胞、嗜酸性白细胞。构成息肉的腺管无异型 ,间质内有出血 ,毛细血管充血 ,表面上皮常有脱落 ,故其临床…