Germline BRCA2 mutation in a patient with fallopian tube carcinoma: a case report

OBJECTIVES: Fallopian tube carcinoma is similar to ovarian and peritoneal carcinoma with respect to histology, response to chemotherapy, and prognosis. BRCA germline mutations have been commonly reported in ovarian and peritoneal carcinoma but rarely in other gynecologic cancers. METHODS: A patient with fallopian tube carcinoma and a family history of ovarian carcinoma underwent genetic counseling and BRCA testing as did her daughter. RESULTS: The patient and her daughter were found to have a germline BRCA2 mutation. CONCLUSION: Like a family history of ovarian or peritoneal carcinoma, the occurrence of fallopian tube cancer should alert the clinician to the possibility of an abnormality in the breast cancer susceptibility 1 or 2 genes.     

Alpha-fetoprotein producing ovarian clear cell carcinoma with a neometaplasia to hepatoid carcinoma arising from endometriosis: a case report

We present a rare case of alpha-fetoprotein (AFP) producing ovarian clear cell carcinoma. This is the first report of a clear cell ovarian carcinoma with hepatoid carcinoma arising from endometriosis. A 54-year-old menopausal woman had a primary ovarian carcinoma of International Federation of Gynecology and Obstetrics stage IIIc. Serum level of AFP was 4195 ng/mL. Histological examination revealed clear cell adenocarcinoma arising from endometriosis with hepatoid carcinoma. Metastatic liver and lymph node tumors were found after 25 months from the first surgery. However, the patient's serum AFP was within normal limits. The recurrent and metastatic tumors disappeared in response to combined liposomal doxorubicin and carboplatin chemotherapy. She has had a disease-free survival of 4 years. In conclusion, the patient had a clear cell ovarian carcinoma with hepatoid carcinoma arising clearly from endometriosis. The recurrent tumors did not show a component of hepatoid carcinoma. Therefore, it is possible to expect better survival with good sensitivity to chemotherapy.     

Fibrolamellar hepatocellular carcinoma arising in a background of focal nodular hyperplasia: a report of 2 cases

BACKGROUND: Fibrolamellar carcinoma, a rare variant of hepatocellular carcinoma, and focal nodular hyperplasia, a benign lesion, are rare hepatic lesions that are known to occur in young women with noncirrhotic livers. Some have suggested that fibrolamellar carcinoma might be the malignant counterpart of focal nodular hyperplasia. The coexistence of the 2 lesions is very rare. CASES: Two cases of fibrolamellar hepatocellular carcinoma arising in a background of focal nodular hyperplasia followed long-term oral contraception, and 1 of the 2 occurred during pregnancy. CONCLUSION: Distinguishing fibrolamellar carcinoma from focal nodular hyperplasia has important implications for treatment and prognosis. One should be aware of such conditions, especially in patients with a long history of oral contraception.     

Uterine metastasis from a heterologous metaplastic breast carcinoma simulating a primary uterine malignancy

OBJECTIVE: To describe the first distant metastasis of a heterologous metaplastic breast carcinoma in the uterus and discuss its differential diagnosis. METHODS: Light microscopy, immunohistochemistry, and flow cytometry were used to evaluate the tumor. RESULTS: A 58-year-old woman underwent mastectomy for metaplastic breast carcinoma confined to the breast. She presented 4 years later with vaginal bleeding. The endometrial curettage showed a poorly differentiated carcinoma. She underwent hysterectomy and bilateral salpingo-oophorectomy as well as pelvic and periaortic lymphadenectomy. Clinical and intraoperative findings favored a primary uterine malignancy. The uterus was markedly distorted with multiple gray-white, solid subserosal, and intramural tumor nodules. The tumor diffusely infiltrated the endometrium sparing benign endometrial glands. The tumor nodules were distributed full thickness of the myometrium. These nodules were composed of high-grade malignant epithelial cells with areas of chondroid metaplasia. Extrauterine microscopic tumor was present in left ovary, pelvic, and periaortic lymph nodes. The histologic features and estrogen/progesterone receptors (ER/PR) as well as DNA ploidy analysis of the uterine tumor showed striking similarity with those of the primary metaplastic breast carcinoma. A diagnosis of metastatic metaplastic breast carcinoma in the uterus was rendered. CONCLUSION: A metastatic heterologous metaplastic breast carcinoma with cartilaginous metaplasia should be considered in the differential diagnosis of heterologous uterine malignant mixed mesodermal tumor (MMMT) and high-grade endometrioid carcinoma with rare foci of cartilage.     

Metastasis of a breast carcinoma in a mature teratoma of the ovary.

Metastatic tumors in ovaries from breast carcinoma are well known. Breast carcinoma metastases in primary ovarian tumors are much more uncommon. The authors present a case of a primary breast carcinoma, with a lobular component (signet ring cells), which metastasized into a mature cystic teratoma of the ovary. The problem of differential diagnosis with other primary ovarian tumors or metastatic tumors and the problem of particular behavior of metastatic lobular components are discussed.     

Well-differentiated serous ovarian carcinoma presenting as a breast mass: a case report and flow cytometric DNA study

Ovarian carcinoma metastatic to the breast is uncommon. We report a rare occurrence of ovarian carcinoma that initially presented as a breast mass. Complete examination revealed bilateral ovarian tumors with widespread peritoneal and abdominal disease. One of the ovarian tumors was a papillary serous tumor of low malignant potential, and the other was a well-differentiated papillary serous carcinoma. Although the neoplasm within the breast resembled serous ovarian carcinoma with psammoma bodies, the initial presentation and the presence of an apparent intraductal component created a potential for its misdiagnosis as a primary breast carcinoma. Using DNA flow cytometry, we demonstrated the relationship between the breast, lymph node, and peritoneal metastases and the serous carcinoma, thereby supporting the histologic diagnoses.     

Recurrent carcinoma in situ of a neovagina

BACKGROUND: Development of carcinoma in situ in a neovagina is rare. CASE: A case of carcinoma in situ of a neovagina complicated by recurrence after ablative therapy is discussed. Recurrence occurred within 4 months of initial therapy, and a total vaginectomy was performed after the patient declined other therapeutic options. CONCLUSION: Recurrent carcinoma in situ of a neovagina can be successfully treated by surgical excision.     

Large cell neuroendocrine carcinoma of the uterine cervix: a report of a case and review of the literature

Introduction Large cell neuroendocrine carcinoma is a rare aggressive cervical neoplasm, considerably rarer than the well-recognized small cell neuroendocrine carcinoma of the cervix. Cervical large cell neuroendocrine carcinomas are distinctive cervical carcinomas that are frequently misdiagnosed and have an unfavorable outcome, similar to that of small cell carcinoma. Case report We report a 45-year-old woman with large cell neuroendocrine uterine cervical carcinoma.     

Primary carcinoma of the neovagina: a case report

We present a case of squamous cell carcinoma arising in the neovagina of a woman in whom we performed vaginoplasty 20 years before. To the best of our knowledge, this is the 23rd case of total carcinoma arising in the neovagina constructed because of vaginal agenesis, and the 3nd case of carcinoma arising in the neovagina performed without using a graft.     

Hepatoid carcinoma of the ovary: a report of three cases admixed with a common surface epithelial carcinoma.

Hepatoid carcinoma of the ovary is an ovarian carcinoma that has phenotypic properties in common with hepatocellular carcinomas. However, the extent of the tumor cells' similarity to and their difference from hepatocytes is largely unknown. In addition, the precursor cell of origin for hepatoid carcinoma of the ovary has not been identified. Three cases of alpha-fetoprotein-producing hepatoid carcinoma of the ovary that were admixed with an adenocarcinoma of common surface epithelial type are reported. The hepatoid carcinomas had a trabecular architecture with canaliculi detected by polyclonal (but not monoclonal) anticarcinoembryonic antigen antibodies. A hepatic phenotype in the hepatoid tumor cells was further supported by the production of albumin mRNA by in situ hybridization. The adenocarcinomas in the three cases were mucinous (Case 1), serous (Case 2), and endometrioid (Case 3), respectively. The cytokeratin (CK) profile in both the hepatoid and adenocarcinomatous components was CK18+/CK19+/CK20+/-, whereas normal and neoplastic hepatocytes were CK18+/CK19-/CK20-. Although this study supports a hepatic phenotype in ovarian hepatoid carcinoma, the CK profile of hepatoid carcinoma differs from that of normal and neoplastic hepatocytes but resembles that of the associated common epithelial adenocarcinoma. These findings suggest that hepatoid carcinoma of the ovary is probably derived from carcinomas of surface epithelial origin by a process of neometaplasia or transdifferentiation.     

Microinvasive carcinoma of the vagina: a distinct clinical entity?

Six patients with superficially invasive squamous carcinoma of the vagina are described. All had less than 2.5 mm of invasion as measured from the surface, lacked involvement of the lymph-vascular spaces, and arose within a field of carcinoma in situ. Three of the six had previously been treated for carcinoma of the cervix. The patients with microinvasive carcinoma had a median age 10 years younger than that of patients with Stage I carcinoma of the vagina. Treatment of the six patients has been by partial or total vaginectomy. With follow-up of 51 to 172 months, there have been no recurrences. More experience is needed to define microinvasive squamous carcinoma of the vagina and to determine the optimal treatment for these lesions.     

Use of various epithelial tumor markers and a stromal marker in the assessment of cervical carcinoma

The epithelial cell tumor markers squamous cell carcinoma antigen, CA 125, CA 15-3, and TAG 72, and the aminoterminal propeptide of type III procollagen, an indicator of collagen metabolism, were evaluated in 111 cervical carcinoma patients. Squamous cell carcinoma antigen was pathologic in 47%, aminoterminal propeptide of type III procollagen in 40%, CA 125 in 13%, CA 15-3 in 30%, and TAG 72 in 9% of the 91 patients with squamous cell carcinoma. The squamous cell carcinoma antigen, aminoterminal propeptide of type III procollagen, and CA 125 correlated with the clinical stage. The predictive value of a pathologic squamous cell carcinoma antigen was 78% and that of a negative result 68%. Squamous cell carcinoma antigen and aminoterminal propeptide of type III procollagen further increased the detection rate by approximately 20% from that obtained by squamous cell carcinoma antigen alone. In 16 patients with advanced disease, squamous cell carcinoma antigen correlated with the behavior of the disease in eight, aminoterminal propeptide of type III procollagen in nine, and CA 125 in six patients. Pathologic squamous cell carcinoma antigen, CA 125, CA 15-3, TAG 72, and aminoterminal propeptide of type III procollagen appeared in 11, 32, 31, 31, and 47% of 19 patients with adenocarcinoma, respectively. Squamous cell carcinoma antigen is clinically useful in squamous cell carcinoma but poor in adenocarcinoma, for which the other markers are better. Squamous cell carcinoma antigen, CA 125, and aminoterminal propeptide of type III procollagen may be used for monitoring the behavior of advanced squamous cell carcinoma.     

Fallopian tube carcinoma presenting with a brain metastasis

BACKGROUND: Fallopian tube carcinoma is a rare gynecologic cancer. An extensive literature search reveals no previous case report of fallopian tube carcinoma presenting with a brain metastasis. CASE: A 63-year-old woman presented with 3 weeks of progressive left-sided weakness. CT scan of the brain revealed a solitary lesion in the right parietal lobe. The patient underwent a complete resection, followed by whole-brain radiation therapy. Pathologic review demonstrated adenocarcinoma with follicular structures. A directed workup revealed a large right adnexal mass. She underwent resection of a large fallopian tube carcinoma with normal ovaries. She recovered from surgery and is receiving combination chemotherapy. CONCLUSION: This is the first case report of a fallopian tube carcinoma presenting as a brain metastasis.     

Clear cell carcinoma and endometrioid carcinoma arising in a endometriotic cyst of the ovary

A case of two tumors arising in an endometriotic cyst of the ovary is described. These two tumors are macroscopically polypous and are histologically a clear cell carcinoma and an endometrioid carcinoma, respectively. This is a rare neoplasm and its existence supports the general opinion that clear cell carcinoma and endometrioid carcinoma of the ovary are both müllerian in origin.     

Carcinoma in situ of the vagina following treatment for carcinoma of the cervix: a distinctive clinical entity.

A series of 10 patients who presented with carcinoma in situ of the vagina following treatment for carcinoma of the cervix were seen in a 3 year period and their clinical and histologic features reviewed. Vaginal lesions developed 1 to 22 years after diagnosis of carcinoma of the cervix was made. In three patients the vaginal lesions progressed to invasion. In the remaining patients repeated biopsies have revealed persistent carcinoma in situ. From this series of 10 patients we conclude that the biologic behavior of vaginal carcinoma in situ following carcinoma of the cervix resembles that of carcinoma in situ of the cervix and that carcinoma of the vagina following carcinoma of the cervix should be considered a separate clinical entity distinctive from primary invasive carcinoma of the vagina.     

Polymyositis and ovarian carcinoma: a case report

We are reporting a case of ovarian carcinoma, who presented with polymyositis. Polymyositis, without any evidence of dermatomyositis, as the presentation of ovarian carcinoma has never been reported. In fact, for patients with polymyositis, there does not appear to be a great increase in the risk of malignancy. The purpose of this report is to make the gynaecologists aware that polymyositis alone can also be the presenting symptom for ovarian carcinoma.     

Metastatic Hurthle cell carcinoma in the abdomen masquerading as a primary ovarian tumor: a case report

Hurthle cell carcinoma, a variant of follicular carcinoma of the thyroid, has been regarded as an aggressive type of differentiated thyroid cancer. It is diagnosed histologically and regarded as a carcinoma by the presence of vascular invasion or capsular invasion. In this case report, a patient with a history of thyroid Hurthle cell carcinoma presented with what seemingly appeared to be a pelvic mass of gynecological origin, with a raised risk-of-malignancy index of 567. She underwent a laparotomy which revealed the presence of multiple masses in the form of nodules and lumps attached to her small bowel, sigmoid colon, omentum, and infracolic region, without the involvement of her pelvic organs or para-aortic lymph nodes. At frozen section, the masses were reported to be high-grade metastatic tumor, possibly a melanoma, unlikely to be a female genital tract tumor. These masses were resected along with a 15-cm section of small bowel and analyzed. They were diagnosed to be secondary lesions of Hurthle cell carcinoma of the thyroid. Hurthle cell carcinoma of the thyroid has not been known to be associated with the elevation of CA125 nor has it been known to metastasize to the small bowel and sigmoid colon.     

Rectal carcinoma after radiotherapy for cervical carcinoma in patients with a family history of colorectal carcinoma: report of two cases

Rectal carcinoma is a rare, but well documented late complication of pelvic irradiation. Little is known about the factors predisposing to the development of radiation-associated rectal carcinoma. We present two patients who developed rectal carcinoma 17 and 26 years after radiotherapy for carcinoma of the uterine cervix. In one patient, mutation in exon 4 of the hMLH1 gene was detected. Radiation-associated rectal carcinoma represents a rare late toxicity of radiotherapy for cervical carcinoma that may occur in patients with a family history of colorectal carcinoma, including hereditary non-polyposis colorectal cancer.     

Rapid Progression of Primary Vaginal Squamous Cell Carcinoma in a Young HIV-Infected Woman

Background. The association of human immunodeficiency virus (HIV) infection with rapid progression of cervical and anal squamous cell carcinoma has been clearly established by several studies. Human papilloma virus (HPV) infection of the anogenital tract is believed to be the causative agent of cervical, anal, vaginal, and vulvar squamous cell carcinoma. While a myriad of reports exist in the literature pertaining to the rapid progression of cervical and anal carcinoma in HIV-infected patients, no association of HIV infection and vaginal carcinoma has been reported. We present an unusual case of a young woman infected with HIV who was diagnosed with advanced vaginal carcinoma and succumbed to her disease shortly thereafter despite aggressive treatment.Case. A 40-year-old woman with a 2-year history of HIV infection presented with Stage IVA squamous cell carcinoma of the vagina and a large vesicovaginal fistula from the tumor eroding through the posterior bladder wall. Computed tomography (CT) of the abdomen and pelvis revealed a large tumor replacing the vagina with mild hydronephrosis and diffuse pelvic and inguinal lymphadenopathy. She underwent urinary diversion with a transverse colon conduit followed by pelvic radiation with weekly cisplatin chemosensitization. A repeat CT scan of the abdomen and pelvis upon completion of her treatment revealed progression of disease with multiple liver metastases and gastrohepatic ligament adenopathy. She subsequently died of advanced metastatic vaginal carcinoma 2 months after completion of treatment.Conclusion. Due to the rarity of primary vaginal carcinoma, the clinical behavior of this neoplasm in the HIV-infected patient is poorly understood. Our case indicates that, although vaginal carcinoma is a disease of the elderly, young women infected with HIV and HPV are predisposed not only to develop cervical or anal carcinoma but also may be at increased risk for vaginal carcinoma with more aggressive and less responsive disease. Furthermore, although vaginal carcinoma is usually a slow-growing neoplasm, this case illustrates the aggressive behavior of such a tumor when associated with HIV infection.     

Argyrophilic carcinoma of the cervix: a report of a case with coexisting cervical intraepithelial neoplasia

Argyrophil cell carcinoma of the cervix is a subtype of cervical carcinoma which is analogous to carcinoid and oat cell tumors of the lung. It has a correspondingly poor overall prognosis and has previously been assumed to be derived from the neural crest via argyrophilic cells in the normal endocervix. We have recently encountered a case of argyrophil cell (oat cell) carcinoma of the cervix coexisting with cervical intraepithelial neoplasia which was argyrophil negative. The etiologic significance of this observation and the therapy of this unique cervical neoplasm are described herein.