Peutz-Jeghers syndrome associated with precocious puberty

Solh, Hassan Mohamed El; Azoury, Ramez S.; Najjar, Shadi

doi:10.1016/s0022-3476(83)80595-2

Cited by 52 publications

(16 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Rarely patients with the Peutz-Jeghers syndrome have Sertoli cell tumors either of the lipid-rich cell type ( Figure 15) 18,21 or sometimes of the not otherwise specified type, a few in the latter group being characterized by cells with abundant oxyphilic cytoplasm. 22 Gonadal pathology in the Peutz-Jeghers syndrome is similar inasmuch as each gonad has the propensity to develop peculiar lesions that although neoplastic are clinically benign and fall more on the Sertoli than the granulosa side of the fence.…”

Section: Ovarian Tumors In Peutz-jeghers Syndromementioning

confidence: 99%

Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems

2005

View full text Add to dashboard Cite

Gonadal sex cord-stromal tumors contain some of the most morphologically interesting neoplasms of the gonads and these lead to many important issues in differential diagnosis. The pathology of these tumors is reviewed with emphasis on new information, similarities and differences in the two gonads, and diagnostic problems. Sertoli cell tumors occur in both gonads being more common in the testis where they usually exhibit a lobular pattern of hollow or solid tubules. In the ovary, tubular differentiation is usually the predominant feature but the lobulation typically seen in the testis is generally not as striking. One variant of Sertoli cell tumor, the large cell calcifying form, appears to be restricted to the male gonad and in contrast to other sex cord tumors is much more frequently bilateral and is associated in many cases with unusual clinical manifestations. In both sexes, patients with Peutz-Jeghers syndrome often have distinctive gonadal pathology. In females, it is in the form of the sex cord with annular tubules whereas in males, the lesion has features that are often intermediate between those of a sex cord tumor with annular tubules and a large cell calcifying Sertoli cell tumor. Sertoli-Leydig cell tumors are more morphologically diverse than pure Sertoli cell tumors and for practical purposes are an issue only in ovarian pathology being exceptionally rare in the testis. The classification proposed by Meyer into well, intermediate, and poor differentiation, remains important prognostically. More recently, heterologous and retiform differentiation has been described. Heterologous tumors most often contain mucinous epithelium, sometimes with small foci of carcinoid or less commonly, and generally in poorly differentiated neoplasms, rhabdomyosarcoma or fetal-type cartilage. Such tumors should be distinguished from pure sarcomas and teratomas. The retiform neoplasms, which tend to occur in young females, may mimic serous borderline tumors or even serous carcinomas. Granulosa cell tumors are much more common in females and in both gonads are divided into adult and juvenile forms. In females, granulosa cell tumors and other sex cord tumors may have markedly bizarre nuclei potentially leading to overdiagnosis as more malignant neoplasms. The juvenile granulosa cell tumor of the testis tends to occur in the first 6 months of life and should be carefully distinguished from the yolk sac tumor of the testis, which usually occurs in a slightly older age group. Occasional sex cord-stromal tumors cannot be readily categorized into the Sertoli or granulosa families and are diagnosed as sex cord-stromal tumors unclassified. In females, this is a relatively common placement for a neoplasm in a pregnant patient. Unclassified tumors are overall more common in males and may entrap residual normal germ cells potentially leading to the erroneous placement of the tumor in the category of a mixed germ cell sex cord-stromal tumor. From the practical viewpoint, the most helpful immunohistochemical findings are the negative s...

show abstract

Section: Ovarian Tumors In Peutz-jeghers Syndromementioning

confidence: 99%

Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems

2005

View full text Add to dashboard Cite

show abstract

“…The majority of patients with SCTAT are of reproductive age (5); therefore, our case is rare, a young girl with SCTAT who presented with precocious puberty as determined by breast budding, pubic hair growth, and vaginal bleeding. A limited number of such pediatric cases have been described in the U.S. literature (2,(6)(7)(8)(9)(10)(11)(12).…”

mentioning

confidence: 99%

Non-Peutz-Jeghers syndrome associated ovarian sex cord tumor with annular tubules: a case report

Nosov

Park

Rao

et al. 2009

Fertility and Sterility

View full text Add to dashboard Cite

“…Testicular sex cord and Sertoli-cell tumours may occur in prepubertal boys affected with PJS leading to sexual precocity and gynaecomastia (Wilson et al, 1986;Coen et al, 1991;Young et al, 1995). The production of oestrogen in ovarian tumours in girls with PJS has also been reported causing isosexual precocity (Sohl et al, 1983).…”

mentioning

confidence: 99%

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

et al. 2003

View full text Add to dashboard Cite

Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz -Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous gastrointestinal polyps and pigmented perioral lesions, PJS is associated with an increased risk of tumours at multiple sites. Follow-up information on carriers is limited and genetic heterogeneity makes counselling and management in PJS difficult. Here we report the analysis of the LKB1/STK11 locus in a series of 33 PJS families, and estimation of cancer risks in carriers and noncarriers. Germline mutations of LKB1/STK11 were identified in 52% of cases. This observation reinforces the hypothesis of a second PJS locus. In carriers of LKB1/STK11 mutations, the risk of cancer was markedly elevated. The risk of developing any cancer in carriers by age 65 years was 47% (95% CI: 27 -73%) with elevated risks of both gastrointestinal and breast cancer. PJS with germline mutations in LKB1/STK11 are at a very high relative and absolute risk of multiple gastrointestinal and nongastrointestinal cancers. To obtain precise estimates of risk associated with PJS requires further studies of genotype -phenotype especially with respect to LKB1/STK11 negative cases, as this group is likely to be heterogeneous.

show abstract

Peutz-Jeghers syndrome associated with precocious puberty

Cited by 52 publications

References 8 publications

Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems

Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems

Non-Peutz-Jeghers syndrome associated ovarian sex cord tumor with annular tubules: a case report

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

Contact Info

Product

Resources

About