1/18. Malignant ovarian sex cord tumor with annular tubules in a patient with peutz-jeghers syndrome: a case report.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.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/18. An unusual admixture of neoplastic and metaplastic lesions of the female genital tract in the peutz-jeghers syndrome.BACKGROUND: peutz-jeghers syndrome (PJS) is a rare autosomal dominant condition with variable penetrance characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. patients with PJS have an increased risk for breast, gastrointestinal and female genital tract cancers. CASE: Multiple genital tract neoplasms in a 41-year-old Italian woman with PJS are described. The patient presented with abdominal pain due to intussusception. A CT scan of the abdomen also showed a left adnexal mass, diagnosed as ovarian mixed serous and mucinous borderline tumor. An ovarian microscopic sex cord tumor with annular tubules (SCTAT) was incidentally diagnosed together with a minimal deviation mucinous adenocarcinoma of the uterine cervix. Also areas of typical hyperplasia of the tubal mucosa with mucinous metaplasia were found. CONCLUSION: This appears to be one of the rare cases reported in literature in which PJS is complicated by multiple and contemporaneous genital tract tumors and rare histological findings. The clinical significance of recurrence of these unusual genital tract tumors and histological alterations in PJS patients is reviewed.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
3/18. Complete germline deletion of the STK11 gene in a family with peutz-jeghers syndrome.peutz-jeghers syndrome (PJS, MIM175200) is an autosomal-dominant inherited disorder characterised by multiple gastrointestinal hamartomatous polyps, melanin spots of the oral mucosa and digits, and an increased risk for various neoplasms. The PJS results from germline alterations of the STK11/LKB1 tumour suppressor gene, located on 19p13.3, and encoding a serine/threonine kinase. The detection of STK11 germline mutations, in only 50-70% of PJS families, has suggested a genetic heterogeneity of the disease. We report the case of a family with typical features of PJS, including gastrointestinal hamartomatous, breast cancers and melanin spots of the oral mucosa. Quantitative multiplex PCR of short fluorescent fragments (QMPSF) of the 19p13 region allowed us to identify an approximately 250 kb heterozygous deletion removing entirely the STK11 locus. This report, which constitutes the first description of a complete germline deletion of STK11, shows that the presence of such large genomic deletions should be considered in PJS families without detectable point mutations of STK11.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
4/18. adult intestinal intussusception: a case report of a rare clinical entity.intussusception in adult is a rare entity that challenges the surgeon opening a wide range of issues in order to define the etiology and therapeutic strategy. Whether to resect or not the bowel is the main question. The answer can be given only after having seen the site of obstruction and the etiology. Colonic intussusception is best treated by resection. Also small bowel intussusception can require resection if a neoplasm is the cause. Peutz Jeghers can be one of these causes as is seen in the case we report.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
5/18. sertoli cell tumor causing prepubertal gynecomastia in a boy with peutz-jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone.peutz-jeghers syndrome (PJS) is a rare disorder characterized by benign intestinal hamartomatous polyps and mucocutaneous pigmentation, and with an increased risk for intestinal and extra-intestinal neoplasms. Sertoli cell tumors in boys with PJS have been increasingly recognized as a cause of prepubertal gynecomastia. However, an association between nephrocalcinosis and PJS has not been reported before. We report on a 7.25-year-old boy with PJS, bilateral gynecomastia, sertoli cell tumor and nephrocalcinosis, and present the outcome of 1-year treatment with the aromatase inhibitor testolactone. The patient presented with bilateral breast and testis enlargement, and mucocutaneous pigmentation. Testicular ultrasound revealed parenchymal multiple microcalcifications. Histopathological examination was consistent with Sertoli cell tumors. nephrocalcinosis due to idiopathic renal hypercalciuria was also detected. The aromatase inhibitor testolactone was begun in an attempt to prevent acceleration in skeletal maturation. One-year treatment with testolactone reduced the breast base diameter from 7 to 3 cm, and bone age advanced 1.2 years during this period. Our case demonstrates that waiting for the effect of aromatase inhibitors on gynecomastia before making a decision for mastectomy may be a reasonable option. We also consider that the association between PJS and nephrocalcinosis may be a coincidence.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
6/18. Prepubertal gynecomastia in peutz-jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor.BACKGROUND: peutz-jeghers syndrome (PJS) is a rare autosomal-dominant disorder characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation and increased predisposition to various neoplasms. Endocrine manifestations in PJS include gynecomastia due to calcified Sertoli cell testicular tumors usually referred to as large-cell calcifying Sertoli cell tumors (LSCT). OBJECTIVE: To evaluate the value of endocrine markers and aromatase inhibitor treatment in children with PJS and LSCT. DESIGN AND SETTING: Familial cases, followed in a tertiary care center. patients: Two male siblings aged 7 and 9 years with PJS and LSCT. INTERVENTION: Third generation aromatase inhibitor (anastrozole) in one of the patients. MAIN OUTCOME MEASURES: Longitudinal measurements of sex-steroids, gonadotropins, Sertoli cell markers and auxological evaluation. RESULTS: The two male siblings with PJS had similar bilateral multifocal testicular calcifications and biochemical evidence of Sertoli cell dysfunction manifested by elevated plasma inhibin-alpha levels. Only one sibling had gynecomastia. estradiol levels were normal in both. During treatment with anastrozole, estradiol levels, growth and skeletal maturation, as well as Sertoli cell markers (inhibin B, inhibin-alpha and anti-mullerian hormone) decreased. CONCLUSIONS: Inhibin-alpha may be considered as a marker for LSCT in children with PJS, pointing to a specific defect in inhibin regulation in this condition. Moreover, the decrease in Sertoli cell markers during aromatase inhibitor treatment suggests that increased estrogen production is a primary event regulating downstream production of Sertoli cell peptides. Anastrozole is efficient in controlling the clinical features of the disease and should be proposed as an alternative to bilateral orchidectomy, which is often performed in this condition.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
7/18. peutz-jeghers syndrome with multiple genital tract tumors and breast cancer: a case report with a review of literatures.We report here on the multiple genital tract neoplasms in a 41-yr-old Korean woman with peutz-jeghers syndrome (PJS). The patient presented with lower abdominal pain. Her previous medical history was PJS and breast cancer. Pelvic ultrasound showed a multilocular cyst at the right adnexal region, diagnosed as bilateral ovarian mucinous borderline tumors. An ovarian sex cord tumor with annular tubules was incidentally diagnosed together with a minimal deviation adenocarcinoma of the uterine cervix and mucinous metaplasia of both the Fallopian tubal mucosa and the endometrium. Although the cases of multiple genital tract tumors with PJS has rarely been reported, the present case appears to be the first in korea in which the PJS syndrome was complicated by multiple genital tract tumors and infiltrating carcinoma of the breast. The clinical significance of the multiple genital tract tumors and breast cancer associated with PJS is reviewed.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
8/18. Benign and malignant neoplasms in a family with peutz-jeghers syndrome: study of three generations.Three members of a family with peutz-jeghers syndrome had intussusception due to intestinal hamartomas. In addition, the grandfather had carcinoma of the jejunum, and the granddaughter had benign ovarian sex cord/stromal tumor causing sexual precocity. Benign and malignant tumors, not often associated with peutz-jeghers syndrome, pose a further threat in addition to the gastrointestinal bleeding and obstruction that often complicate this inherited syndrome.- - - - - - - - - - ranking = 4keywords = neoplasm (Clic here for more details about this article) |
9/18. Endocrine and morphological study of a case of ovarian sex-cord tumor with annular tubules in a woman with peutz-jeghers syndrome.A bilateral ovarian sex-cord tumor with annular tubules (SCTAT) was incidentally discovered in an amenorrheic patient with peutz-jeghers syndrome during conservative surgery in which a small non-capsulated mass was removed from each ovary. ovulation was then induced over two consecutive cycles with urinary gonadotropins; the couple did not conceive because of a male infertility factor. hysterectomy and bilateral oophorectomy were performed to prevent recurrence and avoid the possibility of a cervical malignant adenoma. immunohistochemistry of the SCTAT showed positivity for estradiol and testosterone similar to that of Sertoli and granulosa cell tumors; progesterone was not detected in any cellular component of the neoplasia. Electron microscopy showed that the neoplasm consisted of numerous solid cords of cells surrounded by fibrillary layers of basal lamina, as well as central hyaline bodies. Two types of cells, clear and dark, were noted; clear cells were predominant and intermixed with scattered dark cells. No crystalloids or Charchot-Bottcher filaments were detectable in the tumors.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
10/18. Carcinoma and polyps of the gallbladder associated with peutz-jeghers syndrome.peutz-jeghers syndrome is a genetic condition characterized by mucocutaneous pigmentation and gastrointestinal polyposis. A variety of neoplasms have been found in the alimentary tract or elsewhere in patients with this entity. A 39-year-old female patient who had carcinoma and two polyps in the gallbladder in association with peutz-jeghers syndrome is described. Since the polyps consisted of the normal lining epithelium of the gallbladder and pseudopyloric gland-type metaplastic cells and obviously lacked cellular atypism, the authors would consider them hamartomatous. The carcinoma partly showing submucosal invasion existed in an area other than the polyps. This is the first documented case of the syndrome having gallbladder carcinoma.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
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