ABSTRACT
Objective: Serous tubal intraepithelial carcinoma (STIC) are precursors for high grade serous carcinomas (HGSC) of tubo-ovarian origin. It is a rare entity, most commonly described in patients with a BRCA pathogenic variant (PV) undergoing risk-reducing surgery. Little is known about the risk of subsequent HGSC in patients found to have an isolated STIC without a genetic PV. The objective of this study is to report the outcomes of STIC diagnosed in patients with negative genetic testing ("average risk"). Methods: Retrospective population-based cohort study from British Columbia, Canada. Chart review of patients diagnosed with an isolated STIC from January 2012 to May 2022. Average risk patients are defined as individuals with known negative genetic testing results. Treatment and outcomes are described in the "average risk", BRCA PV, and total cohorts. Results: Twenty-nine patients with isolated STIC were identified. Ten patients had a BRCA PV, four had other variants identified (BRIP1, MLH1, BRIP1 VUS, BRCA 2 VUS), nine had no PV identified ("average risk"), and six were unknown (no genetic testing). Of the nine "average risk" patients, eight (89%) underwent surgical staging. Three (33.3%) had subsequent HGSC diagnosed 29, 70 and 86 months after STIC diagnosis. Conclusions: STIC identified in patients with negative genetic testing are at risk of subsequent HGSC. Patients developed primary peritoneal HGSC despite surgical staging. These patients should also be included in future meta-analysis to determine outcomes and optimal treatment.
ABSTRACT
Opsoclonus-myoclonus syndrome (OMS) is a rare paraneoplastic disorder that is most often seen in association with pediatric neuroblastoma, breast cancer, small cell lung cancer, and prostate cancer. There are only three previously documented cases relating paraneoplastic OMS to ovarian cancer. We present a unique case of OMS related to a stage IIIC high grade serous ovarian carcinoma in a patient with germline BRCA2 mutation, with ten years of clinical follow up. This case report is presented to document the rare association of OMS with epithelial ovarian cancer. Additionally, in this case, OMS and epithelial cancer were successfully treated with medical therapy alone. This is the first report to our knowledge to document ten years of clinical follow up in this context, and to report that the association may not be evident at the time of ovarian cancer recurrence.
ABSTRACT
This study evaluates transition readiness, medical condition knowledge, self-efficacy, and illness uncertainty in young adolescents (ages 12 to 15 years) with congenital heart disease (CHD), and medical, patient, and parental factors associated with transition readiness. We enrolled 82 patients with moderate or complex CHD (n = 36, 44% male; mean age 13.6 ± 1.3 years), and their parents. Patients completed standardized self-report measures: Transition Readiness Assessment Questionnaire (TRAQ), MyHeart scale, General Self-Efficacy scale, and Children's Uncertainty in Illness Scale. Parents completed the MyHeart scale and demographic information. Many young adolescents had not discussed transfer with a health care provider (n = 20, 24%) or parent (n = 34, 41%). Transition readiness was higher among patients who were older, more knowledgeable about their condition, had a history of primary cardiac repair and greater self-efficacy, and was lower for boys and patients on cardiac medications. Transition readiness was unrelated to CHD diagnosis and patients' illness uncertainty. Patients' self-advocacy skills were superior to their chronic disease self-management skills. Increased parental medical condition knowledge was positively correlated with patient knowledge, and patient-parent discussion of transfer was associated with increased patient's self-management skills. Transition is not uniformly discussed with young adolescent CHD patients. Parental involvement is correlated with increased transition readiness and patient disease self-management skills. Young adolescent transition programs should focus on education around improving patient medical condition knowledge, promote chronic disease self-management skills development, and include parental involvement.
