scholarly journals Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review

2017 ◽  
Vol 32 (2) ◽  
pp. 377 ◽  
Author(s):  
Won Hoon Song ◽  
Sung Han Kim ◽  
Jae Young Joung ◽  
Weon Seo Park ◽  
Ho Kyung Seo ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Case Report ◽  
Family History ◽  
Literature Review ◽  
Brca Mutation ◽  
History Of

scholarly journals SMARCE1 mutations in pediatric clear cell meningioma: case report

2015 ◽  
Vol 16 (3) ◽  
pp. 296-300 ◽  
Author(s):  
Linton T. Evans ◽  
Jack Van Hoff ◽  
William F. Hickey ◽  
Miriam J. Smith ◽  
D. Gareth Evans ◽  
...  
Keyword(s):  
Case Report ◽  
Lumbar Spine ◽  
Family History ◽  
Literature Review ◽  
Chromatin Remodeling ◽  
Clear Cell ◽  
Clear Cell Meningioma ◽  
Chromatin Remodeling Complex ◽  
History Of ◽  
Inactivating Mutation

Clear cell meningioma (CCM) is an uncommon variant of meningioma. The authors describe a case of a pediatric CCM localized to the lumbar spine. After resection, sequencing revealed an inactivating mutation in the SWI/SNF chromatin remodeling complex subunit SMARCE1, with loss of the second allele in the tumor. The authors present a literature review of this mutation that is associated with CCM and a family history of spine tumors.

scholarly journals Intravitreal Silicone Oil Migration Into the Lateral Cerebral Ventricles

2019 ◽  
Vol 3 (6) ◽  
pp. 466-473
Author(s):  
Jessica L. Cao ◽  
Andrew W. Browne ◽  
Thomas Clifford ◽  
Sumit Sharma ◽  
Vivek Patel
Keyword(s):  
Case Report ◽  
Retinal Detachment ◽  
Literature Review ◽  
Current Literature ◽  
Symptom Management ◽  
Silicone Oil ◽  
Cerebral Ventricles ◽  
Oil Migration ◽  
Intraocular Tamponade ◽  
History Of

Purpose: Silicone oil (SO) is often used as an intraocular tamponade in repairs of retinal detachments. It may be associated with complications such as cataract, glaucoma, keratopathy, subretinal migration of oil, fibrous epiretinal and sub retinal proliferations, and oil emulsification. The purpose of this report is to describe a rare phenomenon of intraocular silicone oil migration into the cerebral ventricles, which may later be mistaken for intraventricular hemorrhages on neuroimaging. Methods: Case report with literature review. Results: A patient with a history of retinal detachment repair with intraocular SO presented with headaches. Neuroimaging revealed SO migration to the cerebral ventricles. The patient was treated conservatively with symptom management and headaches resolved. Conclusions: We present a case of intraocular SO migration to the cerebral ventricles and review the current literature. We also propose two mechanisms for this phenomenon.

scholarly journals Ovarian Torsion after Hysterectomy: Case Report and Concise Review of the Reported Cases

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Demetrio Larraín ◽  
Andrés Casanova ◽  
Iván Rojas
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Literature Review ◽  
Rare Event ◽  
Laparoscopic Hysterectomy ◽  
Acute Onset ◽  
Ovarian Torsion ◽  
Adnexal Torsion ◽  
Concise Review ◽  
History Of

Ovarian torsion after hysterectomy is a rare event. The diagnosis of ovarian torsion is challenging because symptoms are nonspecific. We present a case of ovarian torsion 2 years after laparoscopic hysterectomy (LH). Furthermore, we performed a literature review about ovarian torsion after hysterectomy. This case shows that, in cases of acute onset pelvic pain in patients with history of hysterectomy, the adnexal torsion must be kept in mind in the differential diagnosis, especially in those women who had undergone LH.

The PROFILE study. Targeted screening using germline genetics in men with a family history of prostate cancer

2021 ◽  
Vol 79 ◽  
pp. S1395
Author(s):  
H. Ni Raghallaigh ◽  
M.N. Brook ◽  
E.J. Saunders ◽  
P. Kumar ◽  
S. Hazell ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Targeted Screening ◽  
History Of ◽  
Profile Study

T2044 Family History of Pancreas, Breast, Colon, Bladder, and Prostate Cancer in Patients with Pancreas Cancer Supports a Syndromic Predisposition

2008 ◽  
Vol 134 (4) ◽  
pp. A-607
Author(s):  
Aimee L. Lucas ◽  
Aliye Z. Bill ◽  
Caroline Hwang ◽  
Elizabeth Verna ◽  
Nicole Goetz ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Pancreas Cancer ◽  
History Of

Gallbladder Paraganglioma: A Case Report With Review of the Literature

2005 ◽  
Vol 129 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Shveta Mehra ◽  
Moonja Chung-Park
Keyword(s):  
Case Report ◽  
Retrospective Study ◽  
Family History ◽  
Gastrointestinal Bleeding ◽  
Biliary System ◽  
Rare Tumor ◽  
Review Of The Literature ◽  
Quadrant Pain ◽  
Endocrine Neoplasia ◽  
History Of

Abstract We report a case of gallbladder paraganglioma that was discovered during nonrelated surgery. Retrospective study disclosed a family history of pheochromocytoma. The occurrence of gallbladder paraganglioma in the presence of family history of endocrine neoplasia supports that gallbladder paraganglioma may indeed occur as a part of the multiple endocrine neoplasm syndrome. Gallbladder paraganglioma is a rare tumor, and so far to our knowledge only 6 cases have been reported in the literature. Three cases were discovered incidentally during cholecystectomy for cholelithiasis, 2 presented with right upper quadrant pain, and 1 manifested with gastrointestinal bleeding. We herein review all reported cases of paraganglioma of gallbladder and biliary system.

Hereditary Cancer Gene Variants in Hispanic Men with a Personal or Family History of Prostate Cancer

2022 ◽  
Author(s):  
Chethan Ramamurthy ◽  
Eric W. Stutz ◽  
Martin Goros ◽  
Jonathan Gelfond ◽  
Teresa L. Johnson-Pais ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Hereditary Cancer ◽  
Gene Variants ◽  
Cancer Gene ◽  
Hispanic Men ◽  
History Of

scholarly journals Multi-cohort modeling strategies for scalable globally accessible prostate cancer risk tools

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Johanna Tolksdorf ◽  
Michael W. Kattan ◽  
Stephen A. Boorjian ◽  
Stephen J. Freedland ◽  
Karim Saba ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Risk Factors ◽  
Family History ◽  
Cancer Risk ◽  
Risk Prediction ◽  
Prostate Biopsy ◽  
Prostate Cancer Risk ◽  
High Grade ◽  
Prediction Tools ◽  
History Of

Abstract Background Online clinical risk prediction tools built on data from multiple cohorts are increasingly being utilized for contemporary doctor-patient decision-making and validation. This report outlines a comprehensive data science strategy for building such tools with application to the Prostate Biopsy Collaborative Group prostate cancer risk prediction tool. Methods We created models for high-grade prostate cancer risk using six established risk factors. The data comprised 8492 prostate biopsies collected from ten institutions, 2 in Europe and 8 across North America. We calculated area under the receiver operating characteristic curve (AUC) for discrimination, the Hosmer-Lemeshow test statistic (HLS) for calibration and the clinical net benefit at risk threshold 15%. We implemented several internal cross-validation schemes to assess the influence of modeling method and individual cohort on validation performance. Results High-grade disease prevalence ranged from 18% in Zurich (1863 biopsies) to 39% in UT Health San Antonio (899 biopsies). Visualization revealed outliers in terms of risk factors, including San Juan VA (51% abnormal digital rectal exam), Durham VA (63% African American), and Zurich (2.8% family history). Exclusion of any cohort did not significantly affect the AUC or HLS, nor did the choice of prediction model (pooled, random-effects, meta-analysis). Excluding the lowest-prevalence Zurich cohort from training sets did not statistically significantly change the validation metrics for any of the individual cohorts, except for Sunnybrook, where the effect on the AUC was minimal. Therefore the final multivariable logistic model was built by pooling the data from all cohorts using logistic regression. Higher prostate-specific antigen and age, abnormal digital rectal exam, African ancestry and a family history of prostate cancer increased risk of high-grade prostate cancer, while a history of a prior negative prostate biopsy decreased risk (all p-values < 0.004). Conclusions We have outlined a multi-cohort model-building internal validation strategy for developing globally accessible and scalable risk prediction tools.

Family history of prostate cancer in patients with localized prostate cancer: an independent predictor of treatment outcome.

1997 ◽  
Vol 15 (4) ◽  
pp. 1478-1480 ◽  
Author(s):  
P A Kupelian ◽  
V A Kupelian ◽  
J S Witte ◽  
R Macklis ◽  
E A Klein
Keyword(s):  
Prostate Cancer ◽  
Treatment Outcome ◽  
Family History ◽  
Treatment Modality ◽  
Proportional Hazards ◽  
Positive Family History ◽  
Specific Antigen ◽  
Tumor Stage ◽  
Degree Relative ◽  
History Of

PURPOSE To determine if familial prostate cancer patients have a less favorable prognosis than patients with sporadic prostate cancer after treatment for localized disease with either radiotherapy (RT) or radical prostatectomy (RP). PATIENTS AND METHODS One thousand thirty-eight patients treated with either RT (n = 583) or RP (n = 455) were included in this analysis. These patients were noted as having a positive family history if they confirmed the diagnosis of prostate cancer in a first-degree relative. The outcome of interest was biochemical relapse-free survival (bRFS). We used proportional hazards to analyze the effect of the presence of family history and other potential confounding variables (ie, age, treatment modality, stage, biopsy Gleason sum [GS], and initial prostate-specific antigen [iPSA] levels) on treatment outcome. RESULTS Eleven percent of all patients had a positive family history. The 5-year bRFS rates for patients with negative and positive family histories were 52% and 29%, respectively (P < .001). The potential confounders with bRFS rates were iPSA levels, biopsy GS, and clinical tumor stage; treatment modality and age did not appear to be associated with outcome. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. CONCLUSION This is the first study to demonstrate that the presence of a family history of prostate cancer correlates with treatment outcome in a large unselected series of patients. Our findings suggest that familial prostate cancer may have a more aggressive course than nonfamilial prostate cancer, and that clinical and/or pathologic parameters may not adequately predict this course.

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