Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation.

We report a primary uterine sarcoma with classic histologic, immunohistochemical, and ultrastructural features of a malignant extrarenal rhabdoid tumor (MERT). It arose in a 71-year-old woman who presented with postmenopausal bleeding, ascites, and a right pelvic mass. Malignant cells with rhabdoid morphology were identified by cytologic examination of the peritoneal fluid. Exploratory laparotomy revealed a 10-cm right adnexal mass and disseminated peritoneal tumor. Pathologic study showed diffuse expansion of the endometrial stroma by rhabdoid-like cells with transmural infiltration of the myometrium and extensive involvement of uterine serosa and right ovary by tumor. Neoplastic cells were immunoreactive for vimentin, cytokeratin, and epithelial membrane antigen, and cytoplasmic whorls of intermediate filaments were observed by electron microscopy. Fluorescence in situ hybridization (FISH) studies with chromosome 22-specific probes showed no loss of the INI1 gene, and no coding sequence mutation was identified.

Ovarian mucinous carcinoids including some with a carcinomatous component: a report of 17 cases.

Only rare primary mucinous (goblet cell) carcinoids of the ovary have been reported, and their clinicopathologic features have not been well delineated. The authors studied 17 examples from patients 14 to 74 years of age. The clinical presentations were similar to those of ovarian neoplasms in general. The tumors ranged from 0.8 to 30 cm in diameter. In six cases the tumor was in the wall of a mature cystic teratoma, appearing grossly as solid nodules or areas of thickening in four of them, six tumors were entirely solid, and five were solid associated with other types of cystic tumor. The tumors were divided into three groups on the basis of their microscopic features. Six neoplasms, designated "well differentiated," were composed of small glands, many of which floated in pools of mucin. The glands were lined by goblet cells and columnar cells, some of which were of neuroendocrine type. Three tumors, designated "atypical," were characterized by crowded glands, some of which were confluent, small islands with a cribriform pattern, and scattered microcystic glands. The glands were lined by cuboidal to columnar cells, some of them neuroendocrine, admixed with goblet cells. Eight tumors, designated "carcinoma arising in mucinous carcinoid," contained islands and larger nodules of tumor cells, or closely packed glands, as well as single cells, mainly of the signet ring cell type. Most of the cells were devoid of mucin and were severely atypical with marked mitotic activity. Necrosis was present in all eight tumors. Seven of the eight tumors with a carcinomatous component contained at least minor foci of well-differentiated mucinous carcinoid; the eighth contained only foci of atypical mucinous carcinoid. The neuroendocrine nature of a variable proportion of the cells in all three groups was demonstrated by staining for neuroendocrine markers. The mucinous nature of other cells was confirmed by mucicarmine or Alcian blue stains. The ovary contained an intrinsic component of trabecular and insular carcinoid, and of strumal carcinoid in one case each, an adjacent mature cystic teratoma in six cases, mucinous cystadenocarcinoma in three cases, and borderline mucinous cystic tumor, borderline Brenner tumor, and epidermoid cyst in one case each. Fifteen tumors were stage I, one was stage II, and one was stage III. The last two tumors had a carcinomatous component. Follow-up data were available for 15 patients; 12 were alive and free of tumor 2.3 to 14 years (average, 4.7 years) after the ovarian tumor was excised. One patient, whose tumor had a carcinomatous component, died 3 years postoperatively of unrelated causes. Two patients, both of whom had a carcinomatous component in their tumor, died 9 and 12 months postoperatively. Primary mucinous carcinoids must be distinguished from metastatic mucinous carcinoid tumors from the appendix or elsewhere. Features supporting an ovarian origin are the additional presence in the specimen of teratoma or an ovarian surface epithelial tumor, an absence of blood vessel or lymphatic space invasion, and confinement to a single ovary. Similar features help to distinguish mucinous carcinoids from Krukenberg tumors. Mucinous carcinoids should also be distinguished from strumal carcinoids, which can contain mucinous glands, and insular carcinoid tumors that arise rarely in the wall of a mucinous cystic neoplasm. Although the number of cases in this series is small, the follow-up data suggest that the degree of differentiation, particularly the presence of frank carcinoma, is an important prognostic factor.

Hemangioma of the testis: report of unusual occurrences of cavernous hemangioma in a fetus and capillary hemangioma in an older man.

We report two cases of hemangiomata of the testes which occurred in a 17-week-old fetus and a 73-year-old man. To our knowledge, these are the first reported cases of cavernous hemangioma of the testis in a fetus and capillary hemangioma of the testis in an older man. Although a hemangioma of the testis is rare, it should be considered in the differential diagnosis of a testicular tumor. Ann Diagn Pathol 5:80-83, 2001.

Ki-A10, a germ cell nuclear antigen retained in a subset of germ cell-derived tumors.

Monoclonal antibody Ki-A10 recognizes a nuclear antigen of 25 and 22 kd apparent molecular mass, which is abundantly expressed by immature gonocytes, spermatogonia, and spermatocytes, whereas it is absent in spermatids, spermatozoa, oocytes, and normal somatic tissues. In a broad spectrum of human cancers the antibody showed no reactivity except for a small subset of malignant lymphomas. Because of this restricted expression pattern, we examined 173 germ cell tumors and 18 sex cord stromal tumors immunohistochemically to assess the distribution of the Ki-A10 antigen. A strongly positive reaction was found in classic seminomas, dysgerminomas, spermatocytic seminomas, and the germ cell component of gonadoblastomas. Yolk sac tumors presented a heterogeneous reactivity pattern ranging from overall positivity to complete lack of antigen expression, and in three of eight choriocarcinomas, a few clusters of cytotrophoblast cells were strongly labeled. All other tumors, including Leydig and Sertoli cell tumors as well as placental tissue, were negative. Our findings suggest that specific germ cell antigens can be retained in germ cell tumors along particular differentiation pathways. Ki-A10 is the first marker that consistently labels spermatocytic seminoma, further confirming its germ cell origin and suggesting a close relationship to classic seminoma. The antibody may serve for diagnostic purposes and promises new insights into the process of germ cell differentiation and the development of germ cell-derived neoplasia.

Villous adenoma arising in Meckel's diverticulum.

The first well documented case of villous adenoma arising in a Meckel's diverticulum not associated with a carcinoma is reported. A 21 year old man with long history of medically treated ulcerative colitis was admitted to hospital with severe pain and bleeding. Total abdominal colectomy and ileo-anal anastomosis was performed and during this procedure Meckel's diverticulum containing a villous adenoma showing minimal dysplasia was found and resected. The diverticulum was lined partly by ileal and partly by gastric epithelium, and the villous adenoma originated from the gastric mucosa.

Dilated fallopian tubes: MR imaging characteristics.

PURPOSE: To determine the magnetic resonance (MR) imaging characteristics of hydrosalpinx and the accuracy of MR imaging for distinguishing hydrosalpinx from other adnexal masses. MATERIALS AND METHODS: Cross-referencing of pathologic records and MR studies from two institutions disclosed 41 study patients with surgically proved dilated fallopian tubes. A set of 38 patients with surgically evaluated adnexal masses, but no hydrosalpinx, were randomly chosen as control subjects. All MR examinations included T1-weighted spin-echo and T2-weighted fast spin-echo imaging in multiple planes with a phased-array multicoil. Two blinded readers scored each adnexa for the presence of a dilated fallopian tube or thickened tubal wall and mucosal folds and the signal intensity of the intratubal fluid. Blinded readings were compared with surgical findings of dilated fallopian tube, endometriosis, and salpingitis. Radiologic-pathologic correlation was performed with adnexal specimens imaged in vitro in three study patients. RESULTS: On a per patient basis, the blinded readers correctly identified dilated fallopian tubes in 31 of 41 study patients and correctly excluded dilated tubes in a mean 34 of 38 control subjects. On T1-weighted images, hyperintense tubal fluid was significantly correlated with the presence of endometriosis in the pelvis at surgery (P < .002, chi 2). CONCLUSION: MR imaging can depict most dilated fallopian tubes and differentiate them from other adnexal masses on the basis of morphologic features. On T1-weighted images, high signal intensity is correlated with the presence of endometriosis affecting the tube.

Large cell calcifying Sertoli cell tumor of the testis: contrasting features of six malignant and six benign tumors and a review of the literature.

We report six malignant and six benign large cell calcifying Sertoli cell tumors of the testis and compare the features of malignant and benign cases based on these cases and those in the literature. All the tumors in this report consisted of sheets, nests, solid tubules, and cords of eosinophilic cells, with focal calcifications, as well as a substantial neutrophilic infiltrate in 11 of them. Analysis of our cases and those in the literature showed that the malignant tumors were unilateral and solitary and occurred at a mean age of 39 years (range 28-51 years), whereas the benign neoplasms were bilateral and multifocal in 28% of cases and occurred at a mean age of 17 years (range 2-38 years). Only one malignant tumor occurred in a patient with evidence of a genetic syndrome (Carney syndrome), whereas 36% of benign tumors had various genetic syndromes or endocrine abnormalities. Most of the tumors in the latter cases were bilateral and multifocal. There were strong associations of malignant behavior with size >4 cm, extratesticular growth, gross or microscopic necrosis, high-grade cytologic atypia, vascular space invasion, and mitotic rate greater than three mitoses per 10 high-power fields. All malignant cases exhibited at least two of these features, whereas all benign cases lacked any of them. The presence of any one of these features in a solitary large cell calcifying Sertoli cell tumor, especially in a patient >25 years of age, should be viewed as suspicious for malignant behavior, whereas the presence of two or more of these features indicates a strong probability of a malignant course. "Low" percentages (< or =35%) of tumor cells staining for proliferating cell nuclear antigen (PCNA) also may correlate with benign behavior, but some benign tumors have high PCNA values. Ki-67 values (MIB-1 antibody) did not correlate with biologic behavior, nor did immunostains for p53 protein.

Papillary projections in ovarian neoplasms: appearance on MRI.

Papillary projections are distinctive pathologic features of epithelial ovarian neoplasms. We sought to determine whether these structures have recognizable features on MRI. A search of a database of 125 patients on whom MRI was performed with pelvic phased-array coil and abdominal surgical exploration was performed for suspected gynecologic disease identified 15 patients who had either MRI reports or pathology reports mentioning papillary projections in an adnexal mass. The MR images were reviewed to characterize the size, structure, and signal intensity of papillary projections. Pathologic correlation was performed on these and on four surgical specimens imaged with high resolution technique. Pathologic correlation showed that larger papillary projections had a distinctive structure of a fibrous stalk supporting clumps of edematous papillae with signal intensity similar to that of fluid on T2-weighted images. Smaller papillae showed nondescript intracystic projections of intermediate signal intensity on T2-weighted images. All papillary projections in vivo enhanced after injection of gadopentetate dimeglumine. Papillary projections have an appearance on MRI that reflects their histologic structure.

Residual ovarian tissue mimicking malignancy in a patient with mucinous carcinoid tumor of the ovary. A case report.

BACKGROUND: Mucinous carcinoid tumor of the ovary is an uncommon lesion in reproductive-age women. If a patient status post total abdominal hysterectomy and bilateral salpingo-oophorectomy (TAH-BSO) for this tumor presents with a pelvic mass, recurrence of the tumor must be considered, as must the presence of residual ovarian tissue producing physiologic cysts with mass effect, termed the "ovarian remnant syndrome." Benign ovarian follicle cysts may have cellular atypia and mimic malignancy. CASE: A female, one year status post TAH-BSO for mucinous carcinoid tumor of the ovary, presented with pelvic mass. Clinical and radiologic evidence supported the diagnosis of recurrent tumor. Aspiration biopsy material was compatible with malignancy, and immunocytochemical stains supported a neuroendocrine origin of the cells. Surgical excision and histologic examination of the mass revealed ovarian tissue with features of corpus luteum and follicular cyst. CONCLUSION: Numerous pitfalls exist when considering an unusual tumor. While the patient's history, clinical impressions and immunocytochemistry may strongly suggest malignancy, more common benign entities may mimic malignancy and should be considered in the differential diagnosis.

Squamous metaplasia of the endometrium associated with HPV 6 and 11.

Although uncommon in the endometrium, squamous metaplasia, dysplasia, and squamous carcinoma have been observed. Associated human papillomavirus (HPV) infection is also unusual, due at least in part to the fact that HPV requires specific characteristics of the target epithelium for infectivity. We report a case of extensive squamous metaplasia with focal low-grade squamous intraepithelial neoplasia of the endometrium coexistent with low-grade cervical intraepithelial neoplasia and an invasive squamous carcinoma of the vagina. In situ hybridization studies revealed HPV types 6 and 11 in both the cervical and endometrial lesions. This is the first report to date to demonstrate squamous epithelial metaplasia and dysplasia of the endometrium, associated with HPV DNA of viruses typically of low oncogenic potential.

Ovarian fibromas and cystadenofibromas: MRI features of the fibrous component.

Ovarian fibromas and cystadenofibromas are neoplasms that share a similar distinctive tissue component of dense fibrous tissue. We sought to describe the MRI features of these neoplasms and to determine if the fibrous component shows distinctive characteristics. Fourteen patients in whom MR images performed with multicoil and fast-spin-echo images and who subsequently underwent surgery for resection of ovarian fibromas or cystadenofibromas were identified from two institutions. Five patients had ovarian fibromas, and nine patients had fourteen cystadenofibromas. 1.5-T MR studies used T1-weighted spin echo and multiplanar T2-weighted fast-spin-echo images, with fat saturation gadolinium-enhanced fast multiplanar gradient-echo images in seven patients. Studies were reviewed for findings of low (approximately equal to skeletal muscle) signal intensity solid components on T2-weighted images, characteristics of gadolinium enhancement, and associated endometrial findings. Images were obtained ex vivo from three adnexal surgical specimens with an 8-cm field of view and correlated with histology. All five of the fibromas showed predominantly very low signal intensity, similar to skeletal muscle, on T2-weighted images. Two of five fibromas were in patients with endometrial polyps and increased amounts of fluid in the pelvis. Thirteen cystadenofibromas were multicystic masses with bands of very low signal intensity ranging from 2 to 20 mm in the wall of the mass, and one was predominantly solid fibrous tissue. Pathologic correlation with specimen images showed that the low signal intensity material was the subepithelial fibrous component of the cystadenofibromas. Fibrous components of ovarian fibromas and cystadenofibromas are demonstrable by MR as solid components representing fibrous tissue of very low signal intensity on T2-weighted images.

Germ cell tumors of the ovary.

During the review period, a number of papers were published reporting series of patients with malignant ovarian germ cell tumors and describing the increasingly successful worldwide trend observed in treatment of such patients. Publications dealing solely with the successful management of patients with pure dysgerminoma, using surgery followed by chemotherapy which is less likely to affect fertility compared with radiation therapy, will be discussed separately. A clinicopathological study of ovarian carcinoid tumors was also reported. Case reports describing gonadoblastomas in patients with an apparent absence of Y chromosome material were published and will be discussed.

Normal adnexa uteri specimens: anatomic basis of MR imaging features.

PURPOSE: To elucidate the anatomic basis for the magnetic resonance (MR) imaging features of normal ovaries and fallopian tubes and causes for varied MR appearances. MATERIALS AND METHODS: MR imaging of 24 surgical specimens of ovary and adnexa uteri in the fresh state from 15 patients was performed before histopathologic processing. T1-weighted spin-echo and T2-weighted fast spin-echo images were obtained. MR imaging findings related to the zonal anatomy of the ovary, functional cysts, and fallopian tubes were correlated with findings at histopathologic examination. RESULTS: Ovaries in premenopausal women showed differentiation between the ovarian cortex and the ovarian medulla on T2-weighted images and in histopathologic sections. Ovaries in postmenopausal women were more homogeneous because of replacement of the medulla with stromal proliferation and corpora albicantia. Functional cysts of the ovary had low-signal-intensity rims on T2-weighted images, which corresponded to the theca and stromal reaction around the cyst. The signal intensity of normal fallopian tubes was intermediate on T2-weighted images and that of muscularis was low. CONCLUSION: Typical patterns of MR appearance of the ovary and functional cysts correlate with the regional histopathologic anatomy of the ovary. T2-weighted imaging of the ovary revealed cyst walls, corpora lutea, and ovarian medulla.

Cytogenetic analysis of an immature teratoma of the ovary and its metastasis after chemotherapy-induced maturation.

We report a case of an immature teratoma of the ovary, grade 3, in which cytogenetic studies were performed on the primary tumor at diagnosis and on a metastasis resected 1 year after removal of the primary tumor. The patient was treated with cisplatin, bleomycin, and etoposide (VP-16) combination chemotherapy. The metastatic tumor was composed of mature teratoma with only small foci of immature tissue. Despite the different histologic appearance of the primary tumor and the metastasis, there was no detectable difference in karyotype between the primary and metastatic tumors. Both showed a pseudodicentric chromosome derived from chromosome 1 and monosomy for chromosome 4. Flow cytometry analysis of the metastatic tumor showed a diploid DNA content, in agreement with the cytogenetic findings. From this case it would appear that chemotherapy-induced maturation of metastatic immature ovarian teratoma is not associated with regression of the malignant karyotype or selection of a karyotypically distinct population of tumor cells.

Analysis of chromosome aneuploidy in ovarian dysgerminoma by flow cytometry and fluorescence in situ hybridization.

We determined the DNA ploidy and the centromeric copy number of chromosomes 7, 12, 18, and X in four cases of ovarian dysgerminoma using DNA flow cytometry and fluorescence in situ hybridization (FISH) with chromosome-specific alpha-satellite probes. The analyses were performed on nuclei isolated from paraffin-embedded tissue. The DNA index of the tumors ranged from 1.75 to 2.08 (near tetraploid). The FISH analysis demonstrated five copies of chromosome 7 and four copies of chromosome 12 in most tumors. The copy number of chromosome 18 ranged from two to four. The X chromosome was present in three copies in most tumors. These data show that the aneuploidy profile of dysgerminoma is similar to that of testicular seminoma. Overrepresentation of chromosomes 7 and 12 and under-representation of chromosome 18 are characteristic cytogenetic features of seminoma. Seminoma and dysgerminoma share the same chromosomal marker, an isochromosome i(12p). Our data suggest that these tumors are also characterized by a similar, nonrandom pattern of chromosome gains and losses.

Cytogenetic study of botryoid rhabdomyosarcoma of the uterine cervix.

We report a case of sarcoma botryoides of the uterine cervix occurring in a 19-year-old woman. By light microscopy the tumor showed round and spindle cells with hyperchromatic nuclei and, focally, a cambium layer subjacent to the surface epithelium and surrounding endocervical glands. Strap-shaped cells with and without cross-striations and small foci of immature cartilage were also present. Immunohistochemical studies showed positive staining within the tumor cells for myoglobin, desmin, vimentin, muscle-specific actin and CD56. By electron microscopy, tumor cells showed cytoplasmic filaments in an alternating pattern of thick and thin filaments. Chromosomal analysis demonstrated deletion of the short arm of chromosome 1, and trisomies 13 and 18. To our knowledge, this is the first reported case of sarcoma botryoides of the endocervix with chromosomal analysis.