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Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.

ABSTRACT: Aim:To reveal current problems and challenges faced by our gynecologic services department in managing patients with hereditary cancers. Methods:We collected clinical data of patients with hereditary cancers, identified via genetic testing (or clinically diagnosed in cases of Cowden syndrome or Peutz-Jeghers syndrome), and treated in our gynecological department from 2012 to 2018. Results:Fifteen patients had hereditary breast and ovarian cancer (HBOC), 6 had Lynch syndrome, 2 had Cowden syndrome, and 2 had Peutz-Jeghers syndrome. Five patients diagnosed with HBOC were younger than 40?years at diagnosis. Risk-reducing salpingo-oophorectomy (RRSO) was performed on 1 patient with a BRCA1 mutation at age 38?years. Seven patients overall underwent RRSO, and none had malignancies on pathological examinations. Peritoneal washing cytology (PWC) was suspicious for malignancy in one patient; however, subsequent PWC at 6?months after RRSO was negative. A patient with endometrial cancer and Lynch syndrome and a patient with atypical endometrial hyperplasia (AEH) and Cowden syndrome strongly desired fertility preservation. They achieved remission after medroxyprogesterone acetate treatment and multiple dilations and curettages, respectively. One patient with Lynch syndrome developed AEH after 11?years of surveillance. Laparotomy revealed adjacent low-grade and high-grade serous ovarian cancer with positive ascites cytology. She had no recurrence during 7-year follow-up after laparotomy. Conclusion:Managing patients with hereditary cancer, positive or false-positive ascites cytology discovered during RRSO, and desired preservation of fertility is highly challenging.

SUBMITTER: Ueda M

PROVIDER: S-EPMC6556775 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.

Ueda Mako M Tsubamoto Hiroshi H Kashima-Morii Mina M Torii Yoshitaka Y Kamihigashi Mariko M Wakimoto Yu Y Nakagomi Nami N Hashimoto-Tamaoki Tomoko T Sawai Hideaki H Shibahara Hiroaki H

Obstetrics and gynecology international 20190527

<h4>Aim</h4>To reveal current problems and challenges faced by our gynecologic services department in managing patients with hereditary cancers.<h4>Methods</h4>We collected clinical data of patients with hereditary cancers, identified via genetic testing (or clinically diagnosed in cases of Cowden syndrome or Peutz-Jeghers syndrome), and treated in our gynecological department from 2012 to 2018.<h4>Results</h4>Fifteen patients had hereditary breast and ovarian cancer (HBOC), 6 had Lynch syndrome ...[more]

PMID: 31263500

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Project description:BACKGROUND:Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes. METHODS:A 90-question/item survey was developed to collect demographics, diagnostic data, management practices, and burden of illness information for patients with epidermolysis bullosa living in the United States. Recruitment was conducted via email and social media in partnership with epidermolysis bullosa patient advocacy organizations in the United States, and the survey was conducted via telephone interview by a third-party health research firm. Respondents aged ??18 years with a confirmed diagnosis of epidermolysis bullosa or caring for a patient with a confirmed diagnosis of epidermolysis bullosa were eligible to participate in the survey. RESULTS:In total, 156 responses were received from patients (n?=?63) and caregivers (n?=?93) representing the epidermolysis bullosa types of simplex, junctional, and dystrophic (subtypes: dominant and recessive). A large proportion of patients (21%) and caregivers (32%) reported that the condition was severe or very severe, and 19% of patients and 26% of caregivers reported a visit to an emergency department in the 12?months prior to the survey. Among the types/subtypes represented, recessive dystrophic epidermolysis bullosa results in the greatest wound burden, with approximately 60% of patients and caregivers reporting wounds covering >?30% of total body area. Wound care is time consuming and commonly requires significant caregiver assistance. Therapeutic options are urgently needed and reducing the number and severity of wounds was generally ranked as the most important treatment factor. CONCLUSIONS:Survey responses demonstrate that epidermolysis bullosa places a considerable burden on patients, their caregivers, and their families. The limitations caused by epidermolysis bullosa mean that both patients and caregivers must make difficult choices and compromises regarding education, career, and home life. Finally, survey results indicate that epidermolysis bullosa negatively impacts quality of life and causes financial burden to patients and their families.

Dataset Information

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.

Publications

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services.

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