Mesenteric fibromatosis in familial polyposis.A variant of Gardner's syndrome

Simpson, R. David; Harrison, Edgar G.; Mayo, Charles W.

doi:10.1002/1097-0142(196404)17:4<526::aid-cncr2820170414>3.0.co;2-q

Cited by 114 publications

(20 citation statements)

References 11 publications

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“…Although colorectal adenocarcinomas represent a primary clinical outcome in FAP patients, stromal involvement and stromalepithelial cell interactions are also impacted (4-7). The latter is clearly manifested clinically in the Gardner syndrome variant of FAP where, in addition to colon cancer, desmoid tumors are prevalent (19). It is of interest, however, that in the present study APC mutations that occur within discrete functional domains of the gene product do not necessarily conform to a clinical phenotype that has been ascribed to these functional domains (20-22).…”

Section: Discussionmentioning

confidence: 99%

One-Hit Effects in Cancer: Altered Proteome of Morphologically Normal Colon Crypts in Familial Adenomatous Polyposis

Yeung¹,

Patel²,

Li³

et al. 2008

Cancer Research

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We studied patients with Familial Adenomatous Polyposis (FAP) because they are virtually certain to develop colon cancer, and because much is known about the causative APC gene. We hypothesized that the inherited heterozygous mutation itself leads to changes in the proteome of morphologically normal crypts and the proteins that changed may represent targets for preventive and therapeutic agents. We determined the differential protein expression of morphologically normal colon crypts of FAP patients versus those of individuals without the mutation, using two-dimensional gel electrophoresis, mass spectrometry, and validation by twodimensional gel Western blotting. Approximately 13% of 1,695 identified proteins were abnormally expressed in the morphologically normal crypts of APC mutation carriers, indicating that a colon crypt cell under the one-hit state is already abnormal.

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Section: Discussionmentioning

confidence: 99%

One-Hit Effects in Cancer: Altered Proteome of Morphologically Normal Colon Crypts in Familial Adenomatous Polyposis

Yeung¹,

Patel²,

Li³

et al. 2008

Cancer Research

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“…It would seem that such tumours tend to appear after operation and that surgical trauma is a precipitating factor in their causation in patients predisposed to them. In Simpson, Harrison, and Mayo (1964) studied the association of familial polyposis of the colon with mesenteric fibromatosis in 15 cases from the literature and seven cases seen at the Mayo Clinic. In these cases, the mesenteric lesion was a benign fibrous tumour with infiltrative tendencies, which usually appeared after intestinal surgery, but, in spite of the alarming appearances, the prognosis was favourable in most cases.…”

Section: Mesodermal Tumoursmentioning

confidence: 99%

“…In addition to the discrete tumour masses in the form of fibromata or desmoid tumours, the excessive fibrous reaction may take a more diffuse form, infiltrating the mesentery or mesocolon or retroperitoneal tissues (Simpson et al, 1964). Thomas et al (1968) observed that this manifestation of excessive fibrous tissue proliferation is sometimes seen in patients with familial polyposis without any other stigmata of Gardner's syndrome.…”

Section: Mesodermal Tumoursmentioning

confidence: 99%

Familial polyposis coli associated with extracolonic abnormalities

Parks¹,

Bussey²,

Lockhart‐Mummery³

1970

Gut

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“…In letteratura, sono riportate soltanto quattro serie di FM [2,[4][5][6] e singole segnalazioni che complessivamente comprendono circa 150 casi. La maggior parte di questi si riferisce a casi sporadici, mentre una minoranza si riscontra nel contesto di alcune sindromi genetiche ereditarie, come la sindrome di Gardner [7,8], la fibromatosi familiare multicentrica [9] e la malattia desmoidea ereditaria [10]. Sebbene la FM si presenti per lo più come lesione monolaterale, rari casi di bilateralità sono stati ben documentati [3,6].…”

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Fibromatosis of the breast: a clinical, radiological and pathological study of a series of six cases

Magro

Gurrera²,

Scavo³

et al. 2002

Pathologica

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We describe the clinical, radiological and pathological features of a series of six cases of primary fibromatosis of the breast. Most patients (5 of 6) were women of 22-58 years of age; one case occurred in a 47-year-old man. The fibromatosis of the breast in all cases presented as a monolateral solid nodule, clinically suspicious for malignancy and in three cases was also associated with cutaneous and/or nipple retraction. None of the patients was affected by any genetic disorder characterized by fibromatoses involving multiple sites, including breast. Both echographic and mammographic examinations revealed solid masses with irregular margins but without calcifications, mimicking scirrhous carcinoma. All cases were surgically treated by lumpectomy (4 of 6) or quadrantectomy (2 of 6), and after a follow-up period ranging from 5 months to 13 years all patients are well and disease-free. Histological examination revealed finger-like infiltrating margins entrapping adjacent breast parenchyma and adipose tissue in all cases. The hallmark of the lesion was the presence of bland-looking spindle cells, with a low mitotic index, organized in long sweeping and intersecting fascicles. Three different morphological phases (i.e. proliferative, involutional and residual), identical to those observed in Dupuytren's superficial fibromatosis, variably coexisted in each case. At immunohistochemistry the cells which comprised the lesion exhibited a diffuse expression of vimentin and a heterogeneous immunoreactivity to a-smooth muscle actin, thus confirming their fibro-myofibroblastic nature. No expression of estrogen, progesterone or androgen receptors or of pS2 correlated-estrogen protein was observed. We discuss both the pathogenesis of the mammary fibromatosis, pointing to the fibroblastic cells of the mammary stroma as the putative precursors, and the differential diagnosis versus the bland-looking, monomorphic spindle cell tumor-like or tumorous lesions of the breast.

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Mesenteric fibromatosis in familial polyposis.A variant of Gardner's syndrome

Cited by 114 publications

References 11 publications

One-Hit Effects in Cancer: Altered Proteome of Morphologically Normal Colon Crypts in Familial Adenomatous Polyposis

One-Hit Effects in Cancer: Altered Proteome of Morphologically Normal Colon Crypts in Familial Adenomatous Polyposis

Familial polyposis coli associated with extracolonic abnormalities

Fibromatosis of the breast: a clinical, radiological and pathological study of a series of six cases

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