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1.
Mol Clin Oncol ; 15(1): 135, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34055350

ABSTRACT

Ovarian metastasis (OM) from breast cancer accounts for 3-38% of all ovarian neoplasms and is associated with various characteristic clinical presentations, such as pseudo-Meigs syndrome and Krukenberg tumor. Accurate diagnosis of OM may be challenging, as such lesions are frequently asymptomatic until they reach a large size. Occasionally, metastatic ovarian cancer is detected prior to the diagnosis of the primary tumor. Immunohistochemistry plays an important role in distinguishing primary ovarian tumors from extraovarian tumor metastases and may be helpful for identifying the primary tumor site. We herein report a case of OM from breast cancer masquerading as primary ovarian cancer. However, the correct diagnosis was made based on histopathological and immunohistochemical examinations. The patient had bilateral breast cancer, namely invasive lobular carcinoma of the left breast and ductal carcinoma of the right breast. Due to the presence of bilateral synchronous breast tumors, the possibility that the patient had hereditary breast and ovarian cancer syndrome or other relevant genetic factors was considered. Immunohistochemistry plays a key role in distinguishing between primary ovarian tumors and OM, and it was also important for confirming the metastatic nature of the ovarian lesion and diagnosing the primary tumor in the present study.

2.
Gynecol Minim Invasive Ther ; 9(4): 237-240, 2020.
Article in English | MEDLINE | ID: mdl-33312870

ABSTRACT

It is relatively uncommon to treat patients with a preoperative diagnosis of benign leiomyoma that is then unexpectedly rediagnosed as malignant in postoperative histology. We report the case of a 55-year-old woman with low-grade endometrial stromal sarcoma who had been diagnosed as having uterine leiomyoma with myxoid degeneration by preoperative magnetic resonance imaging (MRI). She underwent a laparoscopic hysterectomy. The uterus, after being placed in a retrieval bag, was transvaginally morcellated to prevent spillage of the contents, as the MRI image appeared somewhat atypical. A retrospective survey of MRI findings affirmed that the muscle tissue had the appearance of a low-intensity band-like structure: bag of worms appearance. She underwent a laparoscopic bilateral salpingo-oophorectomy and remains recurrence-free. With somewhat atypical preoperative MRI, it is essential to prevent the spillage of the tumor content as no definitive preoperative exclusion of unsuspected mesenchymal malignancies is feasible.

3.
Mol Clin Oncol ; 13(5): 44, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32874574

ABSTRACT

Squamous cell carcinoma of the endometrium is extremely rare, accounting for approximately 1% of uterine body malignancies. The present report describes a case of squamous cell carcinoma of the uterine body arising from ichthyosis due to persistent pyometra. A 68-year-old Japanese woman, gravida 1 para 1, was referred to the Gynecological Department of Tokyo Women's Medical University, due to watery brown vaginal discharge which had persisted for 10 days. Pelvic magnetic resonance (MRI) imaging revealed a tumorous lesion occupying the cervical uteri, measuring 3 cm in diameter, and pyometra. The endometrial biopsy specimen obtained after drainage of the purulent fluid in the uterus was insufficient for obtaining a definitive pathological diagnosis. Under a clinical diagnosis of cervical tumor and pyometra, total transabdominal hysterectomy with bilateral salpingo-oophorectomy was performed. Histopathologically, two primary cancers were diagnosed, i.e., cervical endometrioid carcinoma and squamous cell carcinoma of the endometrium. The patient was treated with additional chemotherapy with carboplatin (area under the curve, 6) and paclitaxel (175 mg/m2). The patient has remained alive, without recurrence, for 1 year to date. In this case, preexisting cervical endometrioid carcinoma caused stenosis of the uterine orifice and also resulted in pyometra. The uterine body squamous cell carcinoma appeared to have been caused by persistent inflammatory stimuli to the endometrium. One must be cautious regarding cancer in elderly postmenopausal females presenting with pyometra. The findings in this case report suggest that chronic inflammation of the endometrium may be associated with primary squamous cell carcinoma of the endometrium.

4.
J Obstet Gynaecol Res ; 45(5): 1079-1083, 2019 May.
Article in English | MEDLINE | ID: mdl-30701637

ABSTRACT

Nephroblastoma (also known as Wilms' tumor) mainly occurs in the kidneys of children. Nephroblastoma outside the kidneys may be observed in three situations: primary disease, metastatic disease and nephroblastoma arising in teratoma. Teratoma with nephroblastoma (TWN) of the adult ovary is a rare tumor and only one case has been reported. We report an unusual adult case of ovarian TWN presented to us with acute abdomen due to the spontaneous rupture of the ovary. The rupture occurred at the site of TWN, while contralateral ovary with only mature cystic teratoma component had no rupture. After one and a half months of the ovary sparing surgery, the tumor disseminated to the splenic hilum and the omentum. A complete staging with maximum cytoreduction followed by adjuvant chemotherapy were performed. She remains disease free until present.


Subject(s)
Ovarian Neoplasms/diagnosis , Rupture, Spontaneous/diagnosis , Teratoma/diagnosis , Wilms Tumor/diagnosis , Adult , Female , Humans , Ovarian Neoplasms/therapy , Rupture, Spontaneous/therapy , Teratoma/therapy , Wilms Tumor/therapy
5.
J Gynecol Oncol ; 29(6): e89, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30207097

ABSTRACT

OBJECTIVE: Highly effective chemotherapy for patients with low-risk gestational trophoblastic neoplasia (GTN) is associated with almost a 100% cure rate. However, 20%-30% of patients treated with chemotherapy need to change their regimens due to severe adverse events (SAEs) or drug resistance. We examined the treatment outcomes of second-line chemotherapy for patients with low-risk GTN. METHODS: Between 1980 and 2015, 281 patients with low-risk GTN were treated. Of these 281 patients, 178 patients were primarily treated with 5-day intramuscular methotrexate (MTX; n=114) or 5-day drip infusion etoposide (ETP; n=64). We examined the remission rates, the drug change rates, and the outcomes of second-line chemotherapy. RESULTS: The primary remission rates and drug resistant rates of 5-day ETP were significantly higher (p<0.001) and significantly lower (p=0.002) than those of 5-day MTX, respectively. Forty-seven patients (26.4%) required a change in their chemotherapy regimen due to the SAEs (n=16) and drug resistance (n=31), respectively. Of these 47 patients failed the first-line regimen, 39 patients (39/47, 82.9%) were re-treated with single-agent chemotherapy, and 35 patients (35/39, 89.7%) achieved remission. Four patients failed second-line, single-agent chemotherapy and eight patients (17.0%) who failed first-line regimens were treated with combined or multi-agent chemotherapy and achieved remission. CONCLUSIONS: Patients with low-risk GTN were usually treated with single-agent chemotherapy, while 20%-30% patients had to change their chemotherapy regimen due to SAEs or drug resistance. The second-line regimens of single-agent chemotherapy were effective; however, there were several patients who needed multiple agents and combined chemotherapy to achieve remission.


Subject(s)
Antimetabolites, Antineoplastic/administration & dosage , Antineoplastic Agents, Phytogenic/administration & dosage , Etoposide/administration & dosage , Gestational Trophoblastic Disease/drug therapy , Methotrexate/administration & dosage , Antineoplastic Agents/adverse effects , Drug Administration Schedule , Drug Resistance, Neoplasm , Female , Humans , Japan/epidemiology , Neoplasm Recurrence, Local/epidemiology , Pregnancy , Remission Induction , Retrospective Studies , Risk Factors , Treatment Outcome
6.
Hum Genome Var ; 5: 13, 2018.
Article in English | MEDLINE | ID: mdl-30083359

ABSTRACT

Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient.

7.
Anticancer Res ; 37(7): 3975-3979, 2017 07.
Article in English | MEDLINE | ID: mdl-28668903

ABSTRACT

BACKGROUND: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma. CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis. At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype. Speculum examination showed uterine cervix and uterine body and bilateral ovaries were not palpable on pelvic examination. Multi-sliced computed tomography of abdomen and pelvis revealed streaked structure along the bilateral external iliac artery at pelvic wall and hypoplastic uterus. Serum testing revealed primary hypogonadism pattern, elevated follicle-stimulating hormone and luteinizing hormone with low concentrations of estradiol and testosterone. The patient underwent genetic counseling with her parents. Chromosomal status was 46XY karyotype and DNA sequencing confirmed FS due to a heterozygous WT1 mutation (IVS9+5G>A). Elective laparoscopic bilateral salpingo-oophorectomy was performed to avoid increased risk for gonadoblastoma. Pathological examination revealed gonadoblastoma in the right gonad. CONCLUSION: Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad.


Subject(s)
Frasier Syndrome/surgery , Gonadoblastoma/diagnostic imaging , Ovarian Neoplasms/diagnostic imaging , WT1 Proteins/genetics , Adolescent , Female , Frasier Syndrome/complications , Frasier Syndrome/genetics , Gonadal Dysgenesis, 46,XY , Humans , Mutation , Ovariectomy , Salpingectomy , Tomography, X-Ray Computed
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