Placental site trophoblastic tumor with sole metastasis to breast: A case report.
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ABSTRACT:
SUBMITTER: Nagamine K
PROVIDER: S-EPMC5537104 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
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Project description:We present a case of a gravida 1 para 1 woman, who presented with an 11-month history of amenorrhea after cesarean delivery. The patient was taking birth control pills at the time of presentation. She was observed with a slight elevation of serum β-hCG level, an enlarged heterogeneous uterus and hematometra. A biopsy was performed, and the patient was diagnosed with placental site trophoblastic tumor; the patient then underwent surgery. Placental site trophoblastic tumor is the rarest form of gestational trophoblastic disease, derived from intermediate trophoblast cells. It does not have a pathognomonic appearance; therefore, correlation with medical history, as well as results of laboratory tests and pathological analysis is mandatory. It is a relatively chemoresistant tumor, posing considerable therapeutic challenges; patients with localized disease are managed with surgery and those with metastatic disease require additional chemotherapy. Herein, we review the main features of this entity and top differential diagnosis, as the rarity of this tumor is associated with imaging and pathological pitfalls, reinforcing the need for further experience in this field.
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Project description:As a rare type of gestational trophoblastic disease, placental site trophoblastic tumor (PSTT) is originated from intermediate trophoblast cells. Long noncoding RNAs (lncRNAs) regulate numerous biological process. However, the role of lncRNAs in PSTT remains poorly understood. In the present study, expression levels of lncRNAs and mRNAs in four human PSTT tissues and four normal placental villi were investigated. The results of microarray were validated by the reverse transcription and quantitative real-time polymerase reaction (RT-qPCR) and immunohistochemistry analyses. Furthermore, GO and KEGG pathway analyses were performed to identify the underlying biological processes and signaling pathways of aberrantly expressed lncRNAs and mRNAs. We also conducted the coding-non-coding gene co-expression (CNC) network to explore the interaction of altered lncRNAs and mRNAs. In total, we identified 1247 up-regulated lncRNAs and 1013 down-regulated lncRNAs as well as 828 up-regulated mRNAs and 1393 down-regulated mRNAs in PSTT tissues compared to normal villi (fold change ≥ 2.0, p < 0.05). GO analysis showed that mitochondrion was the most significantly down-regulated GO term, and immune response was the most significantly up-regulated term. A CNC network profile based on six confirmed lncRNAs (NONHSAT114519, NR_103711, NONHSAT003875, NONHSAT136587, NONHSAT134431, NONHSAT102500) as well as 354 mRNAs was composed of 497 edges. GO and KEGG analyses indicated that interacted mRNAs were enriched in the signal-recognition particle (SRP)-dependent cotranslational protein targeting to membrane and Ribosome pathway. It contributes to expand the understanding of the aberrant lncRNAs and mRNAs profiles of PSTT, which may be helpful for the exploration of new diagnosis and treatment of PSTT.
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Project description:►This case is an unusual presentation of a rare disease entity. ►The diagnosis of epithelioid trophoblastic tumor can be challenging resulting in delay in diagnosis. ►Epithelioid trophoblastic tumor can have a very aggressive course, especially in metastatic disease.
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Project description:Breast metastasis from ovarian cancer is a rare event, with vary clinical and imaging presentations, depends on the form of dissemination of the disease and may mimic primary benign and malignant lesions.Confirmation of the diagnosis is of pivotal importance to choice an adequate therapeutic planning, allowing to avoid unnecessary surgeries and to provide appropriate systemic therapy. In this manuscript, we present a case of breast metastasis from ovarian cancer. The patient presented to our Institute with a localized, palpable mass in the upper outer quadrant of the right breast. Mammography and breast sonography showed a singular, round, and homogenous mass with regular borders. No suspicious axillary node was observed. Lesion biopsy revealed the presence of epithelial malignant tumor cells, compatible with a tube-ovarian serous histotype. So, although it could be rare, secondary malignant neoplasm should be considered in the differential diagnosis of breast lesions in patients with a personal history of ovarian cancer.
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Project description:Glioneuronal tumor (GN) is one type of biphasic central nervous system (CNS) tumor that exhibits both glial and neuronal immunohistological characteristics. We report a case of glioneuronal tumor (GN) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. The tumor exhibited typical characteristics on histological examinations. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a CLIP2-MET fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted CLIP2-MET gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is responsible for the oncogenesis of GN based on our case and other previously reported ones.
2019-12-28 | GSE142668 | GEO
Project description:BACKGROUND:Breast metastasis from extra-mammary primary tumors is extremely rare. We recently experienced a rare case of a male breast metastasis of ureteral cancer and will provide a case report. CASE PRESENTATION:A 74-year-old man developed a ureteral cancer and underwent left nephroureterectomy with lymph node dissection. Although enlarged abdominal lymph nodes did not disappear completely after chemoradiotherapy, further extensive therapy was not performed. A mass just below the nipple of his right breast was acknowledged and he visited our department. Histological diagnosis was invasive carcinoma. It was initially diagnosed as a primary breast cancer, and he underwent a mastectomy and a sentinel lymph node biopsy. There was no intraductal lesion and the border of the tumor was clear. It was very similar to that of the previous ureteral cancer. The final diagnosis was breast metastasis of ureteral cancer rather than primary breast cancer. The postoperative course was good, but multiple lung metastases appeared 2 months after surgery. He eventually died of cancerous lymphangiopathy. CONCLUSION:It is important to accurately diagnose primary breast cancer or breast metastasis so as not to cause extra-invasion, but it was considered difficult to make a complete preoperative diagnosis.
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Project description:BackgroundGastrointestinal stromal tumor (GIST) is the most common primary mesenchymal tumor. The most common metastasis sites are the liver and the surface of the peritoneum. In this study, we present a case of orbital GIST metastasis.Case presentationA 43-year-old woman who had a history of small intestinal stromal tumor 4 years ago suffered GIST metastasis to the left orbit. MRI confirmed the presence of a lacrimal gland lesion with isointense on T1 and hyperintense on T2 weighted images. Histopathology analysis of the tumor showed predominantly spindle or oval cells with nuclear pleomorphism and increased mitoses. The tumor also stained positive for c-KIT (CD117) upon immunochemistry, confirming the diagnosis.ConclusionsGISTs typically occur as sporadic solitary tumors, and their common metastasis sites are the liver and the surface of the peritoneum. Orbital involvement is extremely rare. The orbital GIST metastatic tumor has special imaging properties, as evidenced by histopathology, immunochemistry, and magnetic resonance imaging (MRI).
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Project description:IntroductionGastrointestinal tract involvement in breast cancer is rarely encountered clinically. Data about this condition is limited and mostly from case reports.Case presentationWe report a case of rectal metastasis originating from breast cancer, which presents after a long-term latency of initial diagnosis. The patient had a history of diagnosis and treatment of stage II triple-negative breast cancer with mastectomy and adjuvant chemotherapy and radiotherapy. She showed no signs of recurrence up to eleven years, then presented with hematochezia and mild constipation. A rectal lesion was found on colonoscopy, which raise the initial suspicion of primary rectal cancer, but surprisingly, immunohistochemistry staining of the rectal specimen confirmed the origin of breast cancer.Clinical discussionBreast cancer with rectal metastasis is very rare. Immunohistochemistry combined with medical history is essential for definitive diagnosis in this situation. Mammaglobin and GCDFP-15, CDX2, CK20, and CK7 help differentiate the origin from the breast or the rectum.ConclusionThough breast cancer metastasizing to the rectum is a rare event, physicians should be aware of this differential diagnosis, even in patients with a remote history of breast cancer.
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Project description:Tumor-to-tumor metastasis (TTM) is defined as the hematogenous metastasis within a primary host tumor from a donor neoplasm. Since there is insufficient evidence regarding the pathophysiology, clinical course, and management of TTM, there are no precise guidelines for its management. A 73-year-old female patient diagnosed with breast cancer was found to have convexity meningioma. Since the size of tumor and peritumoral brain edema increased during follow-up period, the meningioma was treated with surgical resection. Postoperatively, histopathologic examination confirmed metastasis of invasive ductal carcinoma within a secretory meningioma. The final diagnosis was TTM of breast cancer in meningioma. Here, we report a rare case of intra-meningioma metastasis and a review of literature to provide a better understanding of this rare phenomenon.
| S-EPMC9911711 | biostudies-literature
Project description:BackgroundPlacental-site trophoblastic (PSTT) and epithelioid trophoblastic tumours (ETT) are the rarest malignant forms of gestational trophoblastic disease (GTD). Our prior work demonstrated that an interval of ≥48 months from the antecedent pregnancy was associated with 100% death rate, independent of the stage. Here, we assess whether modified treatments for these patients have increased survival and identify new prognostic factors.MethodsThe United Kingdom GTD database was screened to identify all PSTT/ETT cases diagnosed between 1973 and 2014. Data and survival outcomes from our prior patient cohort (1976-2006) were compared to our new modern cohort (2007-2014), when intensified treatments were introduced.ResultsOf 54,743 GTD patients, 125 (0.23%) were diagnosed with PSTT and/or ETT. Probability of survival at 5 and 10 years following treatment was 80% (95% CI 72.8-87.6%) and 75% (95% CI 66.3-84.3%), respectively. Univariate analysis identified five prognostic factors for reduced overall survival (age, FIGO stage, time since antecedent pregnancy, hCG level, mitotic index) of which stage IV disease (HR 6.18, 95% CI 1.61-23.81, p = 0.008) and interval ≥48 months since antecedent pregnancy (HR 14.57, 95% CI 4.17-50.96, p < 0.001) were most significant on multivariable analysis. No significant differences in prognostic factors were seen between the old and new patient cohort. However, the new cohort received significantly more cisplatin-based and high-dose chemotherapy, and patients with an interval ≥48 months demonstrated an improved median overall survival (8.3 years, 95% CI 1.53-15.1, versus 2.6 years, 95% CI 0.73-4.44, p = 0.·005).ConclusionPSTT/ETT with advanced FIGO stage or an interval ≥48 months from their last known pregnancy have poorer outcomes. Platinum-based and high-dose chemotherapy may help to improve survival in poor-prognosis patients.
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