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Peutz-Jeghers Syndrome - JMI ArticlesArticles in our collection about Peutz-Jeghers Syndrome and Cancer/Tumors/Carcinoma of the Ovaries or Sex CordTitle: Ovarian tumors associated with multiple endocrine neoplasias and related syndromes (Carney complex, Peutz-Jeghers syndrome, von Hippel-Lindau disease, Cowden's disease) Authors: Papageorgiou T;Stratakis CA; Journal: Int J Gynecol Cancer Date: 2002 Jul Abstract: Despite the relatively high prevalence of ovarian cancer (1% of American women will develop this disease in their lifetime) and recent developments in its molecular genetic understanding (several proto-oncogenes, such as AKT2 and cKRAS, and tumor suppressor genes, such as BRCA1 and BRCA2, have been implicated), little is known about the presence of ovarian tumors and cancer in women already diagnosed with other familial multiple tumor syndromes. In this review, we focus on the possible association of ovarian tumors with multiple endocrine neoplasias (MENs) and their related syndromes, such as Carney complex (CNC), Peutz-Jeghers syndrome (PJS), von Hippel-Lindau disease (VHLD), and Cowden's disease (CD). These conditions recently have been molecularly elucidated, and some of the genes responsible for them (including STK11/LKB1 and PTEN, the genes responsible for PJS and CD, respectively) have already been investigated in series of sporadic ovarian lesions, mostly carcinomas. A brief description of each disease is followed by a literature search for affected patients with ovarian tumors; we review our own experience with CNC patients and ovarian tumors. An association between PJS and CNC and ovarian neoplasms seems likely; carcinoids of the ovary may occur in patients with MEN 1. Only few patients with CD and VHLD have any ovarian pathology, but PTEN, the CD gene has been investigated in sporadic ovarian tumors. The aim of the present report is to alert clinicians who care for patients with MENs, CNC, PJS, VHLD, CD, and other syndromes for possible associations between various types of ovarian tumors and these conditions Link: Click to see Pubmed record Title: Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy Authors: Stratakis CA;Papageorgiou T;Premkumar A;Pack S;Kirschner LS;Taymans SE;Zhuang Z;Oelkers WH;Carney JA; Journal: J Clin Endocrinol Metab Date: 2000 Nov Abstract: Carney complex (CNC) is a familial multiple neoplasia and lentiginosis syndrome (OMIM 160980, http://www.ncbi.nlm.nih.gov/omim ) with features overlapping those of other multiple endocrine neoplasias and hamartomatoses, Peutz-Jeghers syndrome (PJS) in particular. Although a number of patients with CNC and ovarian tumors have been described in individual patient reports, it is unclear whether ovarian lesions constitute a component of the syndrome or are coincidental events. We investigated 18 women with CNC [age at first evaluation, 31.3+/-12.1 yr (mean +/- SD)] prospectively for the development of ovarian tumors over a period of 35.7+/-30.6 months by physical examination and pelvic ultrasonography. They were compared with 11 women (age at first evaluation, 32.9+/-17 yr) who were enrolled under the same protocol (follow up, 32.3+/-25.1 months) and served as a control group. In addition, a registry of 178 women from among a total of 309 patients with CNC was searched retrospectively for any having ovarian tumors. Seven available histological specimens were rereviewed. None of the CNC patients had ovarian tumors analogous to those of PJS. Two patients with CNC in the prospective group developed ovarian tumors and were operated upon. One had bilateral oophorectomy for asynchronous serous cystadenomas. The second patient had a unilateral serous cystadenoma. Resected tumor tissue from both patients was tested for genetic abnormalities of the chromosomal regions to which CNC genetic loci have been mapped. Both showed genomic amplification of chromosomal region 2p16. An additional 10 patients had at least 1 sonogram positive for ovarian cysts. Only 1 of the patients in the control group was found to have a persistent, simple ovarian cyst by ultrasonography. The registry of 178 CNC patients included 4 who had undergone surgery for ovarian tumors. The diagnoses included endometrioid adenocarcinoma (1 patient) and metastatic mucinous adenocarcinoma (the primary site was probably ovarian; 1 patient). In addition, 7 of 12 patients (58%) with CNC, who died of other causes, had ovarian lesions at autopsy. In conclusion, although the same stromal tumor, large-cell calcifying Sertoli cell tumor, affects the testes in CNC and PJS, we did not find such tumors in a small population of CNC patients that was studied prospectively or a larger group of CNC patients that was studied retrospectively. The results of our study also suggested that women with CNC commonly develop ovarian cysts and may be at risk for ovarian carcinoma. The chromosome 2p16 CNC locus was involved in ovarian pathology with apparent copy number gain, suggesting that at least molecularly there is some involvement of the CNC gene(s) in these lesions. Although ovarian tumors do not seem to be a major manifestation of CNC, sonography of the ovaries may be part of the initial evaluation for this genetic syndrome in women with CNC; follow-up of any identified lesion is recommended because of the possible risk for malignancy Link: Click to see Pubmed record Title: Malignant ovarian sex cord tumor with annular tubules in a patient with Peutz-Jeghers syndrome: a case report Authors: Lele SM;Sawh RN;Zaharopoulos P;Adesokan A;Smith M;Linhart JM;Arrastia CD;Krigman HR; Journal: Mod Pathol Date: 2000 Apr Abstract: The majority of ovarian sex cord tumors with annular tubules (SCTAT) are benign neoplasms that arise sporadically. In patients who have Peutz-Jeghers syndrome (PJS), ovarian SCTAT is often an incidental finding. Malignant behavior in SCTAT has heretofore been reported only in sporadic cases. We report a case of bilateral, malignant SCTAT developing in a 47-year-old woman who had PJS, originally diagnosed as adenocarcinoma on cervicovaginal cytology. Cervicovaginal and peritoneal fluid cytologic preparations were characterized by pseudopapillary clusters and three-dimensional tubes of tumor cells with scanty cytoplasm and high nuclear: cytoplasmic ratio. Examination of surgical resection specimens revealed bilateral, solid ovarian tumors composed of simple and complex annular tubules with hyaline cores, typical of SCTAT. Tumor emboli were present within salpingeal lymphovascular spaces and in both right and left pelvic lymph nodes. Flow cytometry of tumor cells demonstrated a diploid phenotype. This case represents the first documented example of bilateral, malignant SCTAT arising in a patient who had PJS, presenting with an atypical cervicovaginal smear Link: Click to see Pubmed record Title: Large-cell calcifying Sertoli cell tumor of the testis: case report and review of the literature Authors: Chang B;Borer JG;Tan PE;Diamond DA; Journal: Urology Date: 1998 Sep Abstract: Large-cell calcifying Sertoli cell tumor (LCCSCT) is a rare sex cord-stromal tumor found predominantly in the pediatric population. This tumor has distinctive histopathologic features and clinical associations. LCCSCT has also been noted in association with the Carney complex, and in patients with Peutz-Jeghers syndrome. The propensity to metastasize is low, and radical orchiectomy has traditionally been the treatment of choice Link:Click to see Pubmed record Title: Sertoli cell tumor causing precocious puberty in a girl with Peutz-Jeghers syndrome Authors: Zung A;Shoham Z;Open M;Altman Y;Dgani R;Zadik Z; Journal: Gynecol Oncol Date: 1998 Sep Abstract: Distinctive ovarian and cervical tumors are associated with Peutz-Jeghers syndrome (PJS). The most common gynecological tumors in this syndrome are adenoma malignum of the uterine cervix and ovarian sex cord tumor, particularly sex cord tumor with annular tubules (SCTAT). Other kinds of ovarian tumors have been rarely reported in association of PJS, including Sertoli cell tumors. We report a case of a 4.5-year-old girl with PJS who presented with isosexual precocious puberty (IPP) due to ovarian lipid-rich Sertoli cell tumor. In addition to estrinizing effect of the tumor, the patient had decidual reaction secondary to tumor-derived progesterone secretion. The literature on gonadal tumors in PJS is reviewed, including one previous report of ovarian lipid-rich Sertoli cell tumor associated with this syndrome Link: Click to see Pubmed record Title: Testicular tumors with Peutz-Jeghers syndrome Authors: Wilson DM;Pitts WC;Hintz RL;Rosenfeld RG; Journal: Cancer Date: 1986 Jun 1 Abstract: The case of a 6-year-old boy with Peutz-Jeghers syndrome (PJS), gynecomastia, and multifocal and bilateral testicular tumors is described. Females with PJS are known to be at increased risk for developing gonadal tumors. This case and other reports from the literature suggest that males, as well as females, with PJS are at risk for developing gonadal tumors Link: Click to see Pubmed record Title: Peutz-Jeghers syndrome with cervical adenocarcinoma and enteritis cystica profunda Authors: Anderson NJ;Rivera ES;Flores DJ; Journal: West J Med Date: 1984 Aug Abstract: Link: Click to see Pubmed record Title: A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the Peutz-Jeghers syndrome Authors: Young RH;Dickersin GR;Scully RE; Journal: Am J Surg Pathol Date: 1983 Apr Abstract: Two distinctive ovarian tumors that caused sexual precocity in young girls with the Peutz-Jeghers syndrome are described. Each of the tumors varied in its histologic pattern, with diffuse areas, foci of tubular differentiation, microcysts and papillae, and contained two unusual cell types. The light-microscopic and ultrastructural findings were consistent with a hitherto undescribed form of sex cord-stromal tumor. The unique microscopic appearance of this tumor and its association with the Peutz-Jeghers syndrome in both cases suggest that it is a third type of gynecological neoplasm related to that disorder Link: Click to see Pubmed record Title: Feminizing sex cord tumor with annular tubules in a boy with Peutz-Jeghers syndrome Authors: Dubois RS;Hoffman WH;Krishnan TH;Rising JA;Tolia VK;Sy DA;Chang CH; Journal: J Pediatr Date: 1982 Oct Abstract: Link: Click to see Pubmed record Title: Peutz-Jeghers syndrome with 'adenoma malignum' of the cervix. A report of two cases Authors: McGowan L;Young RH;Scully RE; Journal: Gynecol Oncol Date: 1980 Oct Abstract: Link: Click to see Pubmed record Title: [A case of Peutz-Jeghers syndrome combined with bilateral breast cancer, an adenocarcinoma of the cervix and ovarian genital cord neoplasms with annular tubules] Authors: Gloor E; Journal: Schweiz Med Wochenschr Date: 1978 May 13 Abstract: The clinico-pathological findings are presented in a case of Peutz-Jeghers syndrome associated with a bilateral mammary invasive ductal carcinoma, a well-differentiated mucinous adenocarcinoma of the cervix and microscopic, bilateral ovarian sex cord tumors with annular tubules. The sex cord tumor with annular tubules was described in 1970 by SCULLY, who recognized its striking association with the Peutz-Jeghers syndrome. Two cases of adenocarcinoma of the cervix and another case of uterine adenocarcinoma of unspecified localization associated with Peutz-Jeghers syndrome were found in the literature. It is possible that women with Peutz-Jeghers syndrome run an increased risk of developing adenocarcinoma of the uterine cervix Link: Click to see Pubmed record Title: Mucocutaneous melanosis and gastrointestinal polyposis (Peutz-Jeghers syndrome): clinical considerations and report of a case Authors: Wesley RK;Delaney JR;Pensler L; Journal: ASDC J Dent Child Date: 1977 Mar Abstract: Link: Click to see Pubmed record Title: Ovarian tumours and Peutz-Jeghers syndrome. A case of 'sex cord tumour with annular tubules' (Scully) Authors: Steenstrup EK; Journal: Acta Obstet Gynecol Scand Date: 1972 Abstract: Link: Click to see Pubmed record Title: Ovarian tumors: an extension of the Peutz-Jeghers syndrome Authors: Christian CD; Journal: Am J Obstet Gynecol Date: 1971 Oct 15 Abstract: Link: Click to see Pubmed record Title: Sex cord tumor with annular tubules a distinctive ovarian tumor of the Peutz-Jeghers syndrome Authors: Scully RE; Journal: Cancer Date: 1970 May Abstract: Link: Click to see Pubmed record Title: Ovarian tumors associated with the Peutz-Jeghers syndrome Authors: Dozois RR;Kempers RD;Dahlin DC;Bartholomeew LG; Journal: Ann Surg Date: 1970 Aug Abstract: Link: Click to see Pubmed record Title: PEUTZ-JEGHERS SYNDROME ASSOCIATED WITH FUNCTIONING OVARIAN TUMOR Authors: C.D. CHRISTIAN, THOMAS G. MCLAUGHLIN, EDWARD R. CATHCART Journal: JAMA Date: 1964 Abstract: PEUTZ, IN 1921, REPORTED THE ASSOCIATION OF SKIN PIGMENTATION AND SMALL BOWEL POLYPS IN SEVERAL MEMBERS OF A FAMILY. JEGHERS ADDED TWO SUCH PATIENTS TO THE LITERATURE IN 1944 AND, IN 1949 ALONG WITH MCKUSICK AND KATZ, HE ESTABLISHED THE SYNDROME AS AN ENTITY WHICH APPEARS TO BE INHERITED AS A MENDELIAN DOMINANT. SINCE THAT TIME ADDITIONAL CASES HAVE BROUGHT THE REPORTED NUMBER TO SOMEWHAT OVER 100. Link: Click here to read article
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Jeghers Medical Index, St. Elizabeth Health Center, 1044 Belmont Ave., Youngstown, OH 44501
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