Ovarian Tumors Associated with the Peutz-Jeghers Syndrome

Dozois, Roger R.; Kempers, R D; Dahlin, David C.; Bartholomeew, L G

doi:10.1097/00000658-197008000-00009

Cited by 53 publications

(20 citation statements)

References 13 publications

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“…Current ethical views do not favor genetic testing of minors, but in PJS there are multiple case reports of fatal cancer arising in very young individuals. For example, there has been stomach cancer reported in patients aged 13, 14 and 17, ovarian cancer at 19, 21 and 22, testicular cancer at 7 months, and intestinal cancer at 26 (twice) and 27 [4,20,36,49,53]. The situation with PJS is similar to the situation with FAP, where young individuals are at risk of cancer before adulthood.…”

Section: Patient Managementmentioning

confidence: 89%

“…The cancer types that convincingly seem to occur more commonly in PJS mutation carriers than in the general population are colon, stomach, small intestinal and pancreatic cancer. Also, breast (often bilateral), ovarian (granulosa or Sertoli cell), testicular (Sertoli cell) and uterine cervical cancers may occur more frequently in PJS than in the average population [3,4,15,30,[50][51][52][53][54]. Adenoma malignum is a peculiar variant of cervical [3, 4, 15, 20, 31, 36, 49-51, 53, 54, 73, 90, 127, 128].…”

Section: Cancer Risk In Pjsmentioning

confidence: 99%

“…Hormone production causing gynecomastia or endometrial hypertrophy by any of these three tumor types is not uncommon, although SCTATs are usually inactive. Other nonmalignant tumors that have been described in Peutz-Jeghers patients include fibroadenoma of the breast, various cystadenomas of the ovaries and colloid nodules of the thyroid [31,53]. Also, a PJS patient with multiple bronchial adenomas has been reported [53].…”

Section: Cancer Risk In Pjsmentioning

confidence: 99%

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The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Hemminki¹

1999

CMLS, Cell. Mol. Life Sci.

185

108

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Peutz-Jeghers syndrome (PJS) is a classic, but not widely known hereditary trait [1, 2]. Its clinical hallmarks are intestinal hamartomatous polyposis and melanin pigmentation of the skin and mucous membranes. In addition, PJS predisposes to cancer [3, 4]. The most common malignancies are small intestinal, colorectal, stomach and pancreatic adenocarcinomas. Other cancer types that probably occur in excess in PJS families include breast and uterine cervical cancer, as well as testicular and ovarian sex cord tumors. The relative risk of cancer may be as high as 18 times that of the general population, and the cancer patients' prognosis is reduced. Recently, the predisposing locus was mapped to 19p13.3 using a novel method [5]. Subsequently, the causative gene was shown to be LKB1 (a.k.a. STK11), a serine/threonine kinase of unknown function [6]. Although preliminary reports seem to suggest a minor role for LKB1 in sporadic tumorigenesis [7-12], further investigations are needed.

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Section: Patient Managementmentioning

confidence: 89%

Section: Cancer Risk In Pjsmentioning

confidence: 99%

Section: Cancer Risk In Pjsmentioning

confidence: 99%

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The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Hemminki¹

1999

CMLS, Cell. Mol. Life Sci.

185

108

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“…Specifically, ovarian sex cord tumors with annular tubules (SCTAT), testicular tumors that resemble SCTAT, sertoli cell testicular tumors, adenoma malignum of the cervix, mucinous tumors of the ovary, and mucinous metaplasia of the fallopian tube should prompt consideration of PJS [28][29][30][31][32][33][34][35][36][37][38][39]. In both sexes these lesions are typically small, bilateral, multinodular, and may generate excess estrogen that causes feminization in either sex [31,39,40].…”

Section: Malignancy Riskmentioning

confidence: 99%

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

et al. 2008

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Peutz-Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz-Jeghers syndrome to portray illuminating features of the syndrome and review the literature.

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“…Carcinoma in the small bowel is rare with this syndrome. Interestingly, female patients with the syndrome are prone to develop ovarian tumors, particularly the granulosacell variety [44].…”

Section: Peutz-jeghers Syndromementioning

confidence: 99%

Clinical and roentgen features of the intestinal polyposis syndromes

Dodds

1976

Gastrointest Radiol

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The intestinal polyposis syndromes represent a challenging diagnostic problem for the radiologist. These syndromes include: familial multiple polyposis, Gardner's, Peutz-Jeghers, Turcot's, Cronkhite-Canada and juvenile polyposis. The polyposis syndromes can usually be differentiated from one another on the basis of the clinical history, examination of the mucocutaneous tissues and roentgen findings. Numerous other conditions, however, may mimmic a polyposis syndrome, and must be considered in the differential diagnosis.

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Ovarian Tumors Associated with the Peutz-Jeghers Syndrome

Cited by 53 publications

References 13 publications

The molecular basis and clinical aspects of Peutz-Jeghers syndrome

The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

Clinical and roentgen features of the intestinal polyposis syndromes

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