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R E Scully

Publications and source records attributed to R E Scully.

At least 37 records · Page 2Linked to original sources
PubMed1998

Sertoli cell tumors of the testis, not otherwise specified: a clinicopathologic analysis of 60 cases.

Sixty Sertoli cell tumors of the testis, excluding large cell calcifying and sclerosing subtypes, are described. Patient age ranged from 15 to 80 years (mean, 45 years). The initial manifestation was usually a testicular mass; in 14 cases it had been enlarging slowly for a period of up to 14 years (mean 3.7 years). Only five patients had testicular pain. Four patients had metastatic disease at the time of presentation. All the tumors were unilateral and ranged from 0.3 cm to 15 cm (mean 3.6 cm). They were typically well circumscribed. Sectioning usually disclosed firm, tan-gray, white, or yellow tissue with areas of hemorrhage and a minor cystic component in approximately one third. Microscopic evaluation usually revealed diffuse sheets or large, nodular aggregates of tumor cells, within which solid or hollow, sometimes dilated, tubules and, less often, cords were usually at least focally identifiable. A relatively acellular, often vascular, fibrous to hyalinized stroma was frequently conspicuous. The tumor cells typically had moderate amounts of pale to lightly eosinophilic cytoplasm, but 10 tumors had cells with abundant eosinophilic cytoplasm. Large cytoplasmic vacuoles were prominent in 26 tumors. Nuclear atypicality was absent or mild in 54 cases, moderate in 4 cases, and marked in 2 cases. Mitotic rate ranged from less than 1 to 21 per 10 high power fields, with 50 tumors having no or only rare mitoses. Vascular space invasion was present in 11 cases and was prominent in 8. Follow-up of more than five years (average 8.4 years), or until evidence of metastasis was seen, was available for 16 patients. Nine were alive and well with no evidence of disease. Four were alive with disease and three died of disease. The pathologic features that best correlated with a clinically malignant course were as follows: a tumor diameter of 5.0 cm or greater, necrosis, moderate to severe nuclear atypia, vascular invasion and a mitotic rate of more than 5 mitoses per 10 high power fields. Only one of nine benign tumors for which follow-up data of 5 years or more were available had more than one of these features, whereas five of seven malignant tumors had at least three.

Adolescent↗
PubMed1998

Mixed endometrial stromal and smooth muscle tumors of the uterus: a clinicopathologic study of 15 cases.

Uterine tumors composed of a prominent component of smooth muscle (SM) and endometrial stroma (ES) (so-called stromomyomas) have received little attention in the literature. The features of 15 of these tumors, defined as those containing more than 30% of each component, were evaluated. Many of the tumors were referred because of problems in the differential diagnosis. Patient age ranged from 29 to 68 years (mean, 46 years). The tumors ranged from 3 to 27 cm (average 9.6 cm) in diameter, and most were grossly well circumscribed. The sectioned surfaces often had soft, tan-yellow areas admixed with firm, whorled areas. Microscopic evaluation disclosed that nine tumors were well circumscribed, and six had infiltrating tongues typical of endometrial stromal sarcoma (ESS). The endometrial stromal component, which predominated in five cases, typically was characterized by a diffuse growth of closely packed, minimally atypical small cells accompanied by numerous arterioles and was desmin-negative in all cases tested, except for rare desmin-positive cells in three tumors. Five tumors showed sex-cord-like differentiation in these areas. The smooth muscle component, which predominated in seven cases, was composed predominantly of spindle cells in disorganized short fascicles, longer fascicles, or nodules with prominent central hyalinization. This component appeared benign, except in one case with moderate cytologic atypia, focal tumor cell necrosis, and 4 mitotic figures/10 high-power fields. The smooth muscle component was strongly desmin-positive in all the tumors tested. Follow-up of more than 1 year was available for seven patients. Six patients were alive and well, but one tumor with infiltrative borders recurred at 48 months as a pure endometrial stromal sarcoma. Mixed endometrial stromal and smooth muscle tumors should be distinguished from highly cellular leiomyomas, pure endometrial stromal tumors, and "uterine tumors resembling ovarian sex cord tumors," at least until knowledge of their clinicopathologic features is more complete. For treatment purposes, these tumors should be reported as endometrial stromal nodules or as endometrial stromal sarcomas with smooth muscle differentiation and any unusual features of either component recorded in a notation.

Adult↗
PubMed1998

Primary ovarian rhabdomyosarcoma: a report of 13 cases.

Primary ovarian rhabdomyosarcomas were found in 13 patients aged 7 to 79 (mean 37) years who had reported abdominal pain and swelling. Six tumors involved the right ovary, 3 involved the left, 1 involved both, and the laterality was unknown in 3 cases. Four tumors were stage I, 2 were stage II, 4 were stage III, and 2 were stage IV; the stage of 1 tumor is not known. The tumors ranged from 10 to 19.5 (average 16) cm in diameter and had solid sectioned surfaces that varied from yellow to white to pink and from gelatinous to hemorrhagic. Microscopically, 11 tumors were embryonal and 2 were alveolar rhabdomyosarcomas. Follow-up information, available for 11 patients, revealed that 7 died of disease 10 days to 26 months postoperatively; 2 of these patients had stage II disease, 3 had stage III, and 2 had stage IV. Four patients were alive 2 to 9 months postoperatively; 3 had stage I and 1 had stage III disease. These 13 tumors and an additional 10 from the English-language literature are reviewed and the differential diagnosis of ovarian rhabdomyosarcoma is discussed.

Abdominal Pain↗
PubMed1998

Malignant mullerian mixed tumors of the uterine cervix: a report of nine cases of a neoplasm with morphology often different from its counterpart in the corpus.

Malignant mullerian mixed tumors (MMMTs) of the uterine cervix are rare; less than 30 cases have been reported in the literature and only 14 have been described in detail. As a result, the clinical and pathologic features of these tumors are not well characterized. The clinicopathologic features of nine cervical MMMTs (all cases referred because of problems in differential diagnosis) are reported here and the literature on the previously described cases is reviewed. The patients ranged in age from 23 to 87 (mean 65) years. The initial manifestations were mainly vaginal bleeding or spotting or, less commonly, an abnormal Pap smear. All of the patients had a cervical mass on examination. Of the eight patients for whom staging information was available, seven were stage Ib and one was stage II. Treatment in six patients was hysterectomy with lymphadenectomy in five; postoperative radiation therapy, chemotherapy, or both were given to two of these patients. The remaining three patients were treated by local excision (with lymphadenectomy in one) followed by radiation therapy, chemotherapy, or both in two. Follow-up, available for seven patients, revealed recurrent pelvic tumor in two patients at 1.6 and 3.0 years, respectively; the former patient died from tumor at 3.5 years whereas the latter was alive with tumor at 4.5 years. Another patient was well for II years but died 13 years postoperatively from colonic adenocarcinoma. Four other patients were alive with no evidence of tumor at postoperative intervals of less than 2 years. Gross examination revealed polypoid or pedunculated masses 1.1 to 10.0 cm in maximal dimension that invaded the cervical wall in 50% of the hysterectomy specimens. On microscopic examination, three tumors contained a predominant or exclusive epithelial component of basaloid carcinoma, two contained squamous cell carcinoma, and four contained adenocarcinoma (endometrioid in three and nonspecific in one). In seven tumors, the sarcomatous component was homologous, usually resembling fibrosarcoma or endometrial stromal sarcoma; in four of these tumors, myxoid change was prominent. Two tumors contained heterologous sarcomatous elements. In three patients, a pure carcinoma abutted the MMMT: an adenoid basal carcinoma in two (with a minor component of in situ and invasive squamous cell carcinoma in each) and an endometrioid endocervical adenocarcinoma in one. These findings, combined with analysis of the previously reported cases, indicate that cervical MMMTs, compared to their counterparts in the corpus, are more commonly confined to the uterus at presentation, may have a better prognosis, and frequently have a nonglandular epithelial component.

Adult↗
PubMed1998

Inhibin expression in ovarian tumors and tumor-like lesions: an immunohistochemical study.

We investigated 203 ovarian tumors and tumor-like lesions for inhibin expression using a monoclonal anti-inhibin alpha antibody. Inhibin was present in the tumor cells in all 14 primary adult granulosa cell tumors (4 luteinized) plus 3 metastatic, all 10 primary juvenile granulosa cell tumors plus 1 metastatic, 10 of 11 thecomas, 3 of 11 fibromas, 4 of 11 sclerosing stromal tumors, 6 of 11 Sertoli cell tumors (1 oxyphilic), 7 of 11 Sertoli-Leydig cell tumors, 1 gynandroblastoma, 10 primary ovarian sex cord tumors with annular tubules plus 2 metastatic, 8 of 9 steroid cell tumors, both pregnancy luteomas, 1 of 2 unclassified sex cord tumors, 2 of 5 gonadoblastomas, 9 of 10 female adnexal tumors of probable wolffian origin, and in the non-neoplastic stroma of many carcinomas and germ cell tumors. The tumor cells were inhibin-negative in 10 fibrosarcomas, 12 small cell carcinomas of hypercalcemic type, 24 germ cell tumors (except for a focus of inhibin-positive syncytiotrophoblast in one case), and 17 ovarian carcinomas. Two of the three inhibin-positive fibromas showed diffuse immunostaining and were associated with evidence of estrogenic activity. Among nine Sertoli-Leydig cell tumors with available clinical data, four that were more than minimally inhibin-positive were accompanied by androgenic manifestations; five inhibin-negative or only minimally positive tumors lacked such evidence. Inhibin immunostaining may be useful in the differential diagnosis of inhibin-positive sex cord tumors versus histologically similar inhibin-negative neoplasms, but inhibin negativity does not preclude a diagnosis of sex cord tumor. The unexpected, common inhibin positivity of female adnexal tumors of probable wolffian origin indicates that inhibin staining cannot be used to differentiate these tumors from Sertoli cell tumors. Inhibin immunostaining is also helpful in identifying potential steroid hormone-secreting cells in the non-neoplastic stromal component of epithelial, germ cell, and other ovarian tumors.

Adnexal Diseases↗
PubMed1997

Transvaginal ultrasonography compared with endometrial biopsy for the detection of endometrial disease. Postmenopausal Estrogen/Progestin Interventions Trial.

BACKGROUND: Transvaginal ultrasonography is a noninvasive procedure that may be used to detect endometrial disease. However, its usefulness in screening for asymptomatic disease in postmenopausal women before or during treatment with estrogen or estrogen-progesterone replacement is not known. METHODS: We compared the sensitivity and specificity of transvaginal ultrasonography and endometrial biopsy for the detection of endometrial disease in 448 postmenopausal women who received estrogen alone, cyclic or continuous estrogen-progesterone, or placebo for three years. RESULTS: Concurrent ultrasonographic and biopsy results were available for 577 examinations in the 448 women, 99 percent of whom were undergoing routine annual follow-up. Endometrial thickness was less than 5 mm in 45 percent of the examinations, 5 to 10 mm in 41 percent, more than 10 mm in 12 percent, and not measured in 2 percent, and it was higher in the women receiving estrogen alone than in the other groups. Biopsy detected 11 cases of serious disease: 1 case of adenocarcinoma, 2 cases of atypical simple hyperplasia, and 8 cases of complex hyperplasia. Biopsy also detected simple hyperplasia in 20 cases. At a threshold value of 5 mm for endometrial thickness, transvaginal ultrasonography had a positive predictive value of 9 percent for detecting any abnormality, with 90 percent sensitivity, 48 percent specificity, and a negative predictive value of 99 percent. With this threshold, a biopsy would be indicated in more than half the women, only 4 percent of whom had serious disease. CONCLUSIONS: Transvaginal ultrasonography has a poor positive predictive value but a high negative predictive value for detecting serious endometrial disease in asymptomatic postmenopausal women.

Biopsy↗
PubMed1997

Trophoblastic tumors of the testis other than classic choriocarcinoma: "monophasic" choriocarcinoma and placental site trophoblastic tumor: a report of two cases.

We report two unusual forms of testicular trophoblastic tumor. One was a mixed germ cell tumor in a 19-year-old man that had a predominant component of nodules of cytotrophoblast cells with only rare syncytiotrophoblast cells. These nodules of "monophasic" choriocarcinoma were diffusely positive for human chorionic gonadotropin (hCG), which stained the syncytiotrophoblast cells more intensely; stains for human placental lactogen (HPL) highlighted only the latter cells. The second tumor occurred in a 16-month-old boy. It consisted of a pure proliferation of intermediate trophoblast cells and was identical to the placental site trophoblastic tumor of the uterus. The tumor cells showed diffuse immunoreactivity for HPL and patchy staining for hCG. Despite the occurrence of vascular wall invasion, the patient was alive and well at 8 years follow-up with no treatment other than orchiectomy. These cases show that trophoblastic tumors other than classic choriocarcinoma occur rarely in the testis. The differential diagnosis of the "monophasic" choriocarcinoma included seminoma and the solid variant of yolk sac tumor, but the tumor had larger, more irregular nuclei than those of seminoma and was not associated with distinctive yolk sac tumor patterns. The placental site trophoblastic tumor may be confused with Leydig cell tumor or choriocarcinoma, but awareness of its occurrence in the testis and the immunohistochemical findings should permit its recognition.

Adult↗
PubMed1997

Benign fibromatous tumors of the testis and paratesticular region: a report of 9 cases with a proposed classification of fibromatous tumors and tumor-like lesions.

Benign intrascrotal fibrous proliferations are uncommon, with most arising from the paratesticular region and falling into the category of so-called fibrous pseudotumor. We describe two neoplastic forms of benign fibrous tumor of the testis and its adnexa: fibroma of gonadal stromal origin and fibroma of the testicular tunics. Three patients with gonadal stromal fibroma were 28, 33, and 35 years of age and presented with painless masses. The tumors were circumscribed, intratesticular, yellow-white or white lesions 0.9 to 4.0 cm in diameter and had microscopic features identical to those of the ovarian fibroma. Immunohistochemically, the tumor cells were strongly positive for vimentin (3/3 cases), focally positive for actin and desmin (2/3 cases) and negative for S-100, keratin, and CD34 (3/3 cases). Six fibromas of the testicular tunics arose in patients 22, 34, 60, 68, 70, and 74 years old and were also asymptomatic masses. Four of them were circumscribed, whorled, white masses arising from the tunica albuginea with variable areas of myxoid change; one was pedunculated and grew exclusively into the cavity of the tunica vaginalis, whereas the other three at least partially extended into the testis as well. The other two tumors were unattached to the tunica albuginea and presented as circumscribed, white-tan paratesticular masses, partially covered by tunica vaginalis. Microscopically, the tumors were slightly to moderately cellular, with bland spindle or stellate cells lying in a myxoid or collagenous stroma with prominent vessels. The two paratesticular tumors had features typical of solitary fibrous tumor. Immunohistochemically, the fibromas of the testicular tunics were negative for S-100, keratin, and desmin. Focal, weak reactivity for actin was present in one case. CD34 was positive in three cases; in the two tumors resembling solitary fibrous tumors it was strong, and in the other it was focal and was limited to the region just below the tunica vaginalis. Eight tumors were treated by radical orchiectomy and one by excision of the mass alone. The outcome was benign in the seven cases in which followup information is available.

Adult↗
PubMed1997

Testicular and epididymal plasmacytoma: a report of 7 cases, including three that were the initial manifestation of plasma cell myeloma.

We report the cases of six men, 40 to 89 years of age, with testicular (6 cases) or epididymal (1 case) plasmacytoma. Patients presented with a mass in five cases. One tumor was found during evaluation of progressive myeloma. In the final case, the testicular lesion was identified when the patient presented with pathologic fractures. Gross inspection revealed discrete or, less often, ill-defined lesions. Microscopic examination disclosed masses of atypical plasma cells, including binucleated and multinucleated cells and, occasionally, anaplastic cells that obliterated the underlying parenchyma or invaded between seminiferous or epididymal tubules. Immunohistochemical stains on paraffin sections in five cases showed tumor cell expression of monotypic cytoplasmic immunoglobulin. The cells were positive for the leukocyte common antigen (CD45) in three of five cases. All four cases tested were negative for B (CD20) and T (CD3) cell specific antigens and for CD30 and placental alkaline phosphatase. Expression of CD43, CD45RO, and epithelial membrane antigen was found in three, two, and one of four cases respectively. All the patients also had plasma cell neoplasia distant from the testis, identified before (3 cases), concurrent with (3 cases) or after (1 case) the testicular or epididymal plasmacytoma. In one patient a plasmacytoma developed in the contralateral testis three years later; he was alive with plasma cell myeloma 51 months after diagnosis. Another had a plasmacytoma in the contralateral epididymis 8 years later; he also had a nasal cavity plasmacytoma and multiple subcutaneous plasmacytomas, and was alive and well after 26 years. One additional patient was alive with myeloma 6 months later, and four final patients died between 2 months and 3 years after orchiectomy. Three of the four consultation cases in this series were submitted with diagnoses of spermatocytic seminoma, anaplastic seminoma and lymphoma. The diagnosis of plasmacytoma should be borne in mind when examining testicular or paratesticular tumors with a diffuse pattern without glandular differentiation, particularly in men 40 years of age or older.

Adult↗
PubMed1997

Granulocytic sarcoma of the female genital tract: a clinicopathologic study of 11 cases.

Eleven patients, 13 to 76 (mean, 40) years of age, had granulocytic sarcoma of the female genital tract (FGT) (ovary, seven cases; vagina, three cases; cervix, one case). In nine cases, the FGT involvement was the initial clinical presentation of the disease, and in the other two cases, the FGT involvement was discovered during a relapse of acute myeloid leukemia. The tumors ranged from 0.5 to 14 (mean, 7.5) cm in greatest dimension. Two ovarian tumors were bilateral, and three were green. Microscopic examination revealed a predominantly diffuse pattern of growth, but cords and pseudoacinar spaces were also present focally in several cases. Sclerosis was seen in five tumors and was prominent in one. Prominent myeloid differentiation was readily recognizable on routinely stained sections in three cases, whereas the neoplastic cells in the other cases were primitive with only rare eosinophilic myelocytes. All 11 tumors were positive for chloroacetate esterase, nine of nine were strongly and diffusely positive for lysozyme, eight of eight for myeloperoxidase, seven of seven for CD68, and six of six for CD43. Examination of bone marrow or peripheral blood performed after the diagnosis of FGT involvement revealed acute myeloid leukemia in three of five cases. Two of these patients died of disease, 1 and 16 months after the initial diagnosis, and the third, who received chemotherapy, is alive and free of disease 8 months after the initial diagnosis. One of the two patients with negative bone marrow had recurrent granulocytic sarcoma 30 months after diagnosis and died of sepsis 1 month later; no residual disease was noted at autopsy. The other patient is alive and free of disease 18 months after the diagnosis. One of the four remaining patients with primary FGT involvement who did not have a bone marrow biopsy died of leukemia 24 months later; no follow-up information is available for the other three patients. One of the two patients with a prior diagnosis of acute myeloid leukemia was alive with disease 26 months later; follow-up is not available for the second patient. The diagnosis was often difficult in these cases, the most common problem being distinction from malignant lymphoma, but carcinoma, granulosa cell tumor, and, rarely, other tumors were considered. Immunohistochemical and enzyme histochemical staining were useful in establishing the diagnosis, although suspicion of the diagnosis on examination of routinely stained sections was of paramount importance.

Adolescent↗
PubMed1997

Adenocarcinoma of the epididymis: a report of four cases and review of the literature.

Primary epididymal carcinoma is extremely rare and has been the subject of only sporadic case reports; the validity of some of the reported tumors is questionable. We report our experience with four examples, which arose in men 27, 66, 77, and 81 years of age. All of them presented with scrotal masses; three of them had small hydroceles. None had a history of von Hippel-Lindau disease. Grossly, all of the tumors were centered in the epididymis and two were confined to it. One tumor invaded the periepididymal soft tissue and spermatic cord and the fourth invaded the adjacent testis. They were 2.0-7.0 cm in greatest diameter; three had foci of hemorrhage and necrosis. Microscopically, all of the tumors were adenocarcinomas. Two of them were composed of approximately equal numbers of simple tubules and more complex tubulopapillary formations lined by cuboidal or columnar predominantly clear cells that infiltrated the epididymal smooth muscle wall, periepididymal soft tissue, or both. The other two had large cysts into which grew complex papillary or confluent, back-to-back glands lined by columnar cells with clear, lightly amphophilic or eosinophilic cytoplasm. Necrosis was present in three cases. An undifferentiated, sheetlike growth of anaplastic tumor cells was present focally in one case. Cilia were absent. Small amounts of cytoplasmic glycogen were present in the two cases in which periodic acid-Schiff staining was performed. Immunohistochemical staining, performed in one case, demonstrated strong positivity for cytokeratins (AE1/3, Cam 5.2) and epithelial membrane antigen (luminal only). Results of staining for carcinoembryonic antigen, Leu M1, B72.3, and Ber-EP4 were negative. Ultrastructural analysis, performed in one case, showed well-developed desmosomal junctions, cytoplasmic multivesicular bodies, glycogen particles, and well-developed cilia. Two of three patients with follow-up data died of disease 8 months and 2.5 years after diagnosis; the third was disease free 30 years after the diagnosis despite having paraaortic lymph node metastases at the time of presentation. After reviewing the literature and analyzing our cases, we conclude that bona fide examples of epididymal adenocarcinoma are usually tubular, tubulocystic, or tubulopapillary adenocarcinomas, often with an appreciable content of clear cells, which can usually be readily separated from other paratesticular malignant tumors, such as malignant mesothelioma and carcinomas of the müllerian type. Distinction from metastasis may be difficult and may depend largely on careful clinical evaluation.

Adenocarcinoma↗
PubMed1997

Tumors of the fimbriated end of the fallopian tube: a clinicopathologic analysis of 20 cases, including nine carcinomas.

Twenty tumors that were primary in the tubal fimbriae are reported. They were found in patients aged 17 to 83 (average 57) years. All were of mullerian type. Nine tumors were benign (eight adenofibromas, one cystadenoma), of which seven were serous and two, endometrioid. Two tumors were borderline, a serous papillary cystic tumor of borderline malignancy and an endometrioid adenofibroma of borderline malignancy. Nine tumors were carcinomas, of which four were serous, three endometrioid, and two undifferentiated. Follow-up information was available for six patients with carcinoma. One with serous carcinoma was well at 1 year; a second had ascites with malignant cytologic features nine years postoperatively and is currently on chemotherapy. One patient with endometrioid carcinoma was alive without disease after 8 years, and the other died of tumor at 6.5 years. One patient with undifferentiated carcinoma was alive without disease at 5 years and the other died of disease at eight months. The occurrence of fallopian tube tumors that arise in the fimbriae has received scanty attention in the literature. A fimbrial origin for the tumors is often overlooked initially. Carcinomas confined to the fimbriae cannot be adequately staged according to the current staging system of the International Federation of Gynecology and Obstetrics. It is proposed that they be placed in a new category, Stage I(F), because the tumor cells are exposed directly to the peritoneal cavity even though they do not invade the tubal wall. Although experience is limited it appears that they may have a worse prognosis than Stage I tubal tumors that are nonfimbrial.

Adenofibroma↗
PubMed1997

Cervical squamous cell carcinoma in situ with intraepithelial extension to the upper genital tract and invasion of tubes and ovaries: report of a case with human papilloma virus analysis.

A 55-year-old woman, who was found to have malignant squamous cells on a routine cervical smear, underwent a conization biopsy, followed by hysterectomy with bilateral salpingo-oophorectomy. No gross tumor was present in the uterus, but both ovaries, which were of normal size, contained multiple cysts filled with light brown, soft material. Microscopic examination showed squamous cell carcinoma in situ of the cervix with contiguous spread to the endometrium, fallopian tubes, and ovaries; squamous cell carcinoma extensively replaced the endometrial and tubal epithelium, focally invaded the wall of the fallopian tubes, and involved the parenchyma of both ovaries. Although an invasive cervical carcinoma occasionally spreads to the ovary, this case illustrates that exceptionally an in situ tumor spreads along the epithelium of the upper genital tract and the ovarian surface and invades the ovary and tubes. The detection of human papillomavirus DNA in the cervical, endometrial, tubal, and ovarian tumors by the polymerase chain reaction suggests a role for human papilloma virus infection in this case.

Carcinoma in Situ↗
PubMed1997

Primary angiosarcoma of the ovary: a report of seven cases and review of the literature.

Seven primary ovarian angiosarcomas were diagnosed in 7 patients 20 to 32 (mean 26) years of age. The most common clinical presentation was abdominal pain and distention. Three tumors were in the right ovary and 3 in the left; one was bilateral. Four tumors were Stage I and 3 Stage III. The tumors were brown and hemorrhagic, ranging in maximum dimension from 6 to 13 (average 10) cm. Microscopically, 5 tumors were pure angiosarcomas and 2 were associated with a dermoid cyst. Follow-up information ranging from 2 months to 9 (average 3.6) years was available for 5 patients. Three patients, all with Stage III disease, died of tumor (1 with a pure angiosarcoma, 2 with tumors arising in a dermoid cyst) 2, 15, and 30 months postoperatively. Two patients with Stage I disease and follow-up data were alive and healthy 5.5 and 9 years postoperatively. The differential diagnosis of these tumors is discussed and the literature reviewed.

Adult↗
PubMed1997

A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors.

A subset of ovarian tumors, referred to as sex cord-stromal tumors, produce endocrine manifestations due to the secretion of estrogens or androgens. Because gonadotropins induce the growth, differentiation, and function of the steroid-producing cells of the ovary, we hypothesized that mutations in the FSH receptor (FSH-R) might occur in this group of tumors. Ovarian sex cord tumors (n = 13), small cell carcinomas of the ovary (n = 3), and control DNA specimens (n = 116) were screened for mutations in the transmembrane domains of the FSH-R. A heterozygous T-->C mutation was found at nucleotide 1777 that converts codon 591 from phenylalanine to serine (F591S). This sixth transmembrane domain mutation was found in 9 of 13 (69%) sex cord tumors and 2 of 3 ovarian small cell carcinomas, but it was not present in control specimens, including 5 normal ovaries, 5 nonsex cord ovarian tumors, 16 thyroid tumors, or 90 specimens of peripheral blood leukocyte DNA, suggesting that this nucleotide change is not a polymorphism. The functional effects of identified mutations were assessed by expression of the wild-type or the F591S mutant FSH-R in COS-7 cells. The F591S mutation eliminated FSH-stimulated cAMP production, and a similar effect was observed when this mutation was introduced into the homologous location of the LH receptor. The high prevalence of the F591S mutation in the FSH-R suggests that it plays a role in the development of ovarian sex cord tumors.

Adolescent↗