21 results on '"Sarah Ehmann"'
Search Results
2. Isolated splenic high-grade serous carcinoma: A case report
- Author
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Ralph Rogers, Sarah Ehmann, William P. Tew, and Vance Broach
- Subjects
High-grade serous carcinoma ,Splenic Mullerian carcinoma ,Pluripotent spleen cell ,TP53 hotspot mutation ,PALB2 mutation ,ARID1 somatic mutation ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
We present a unique case of high-grade serous carcinoma isolated to the spleen at the time of diagnosis, without any tumor present in the ovary, fallopian tubes, omentum or uterus, which was pathologically consistent with metastatic Mullerian carcinoma. Tumor sequencing with the MSK-IMPACT (Memorial Sloan Kettering–Integrated Mutation Profiling of Actionable Cancer Targets) multigene tumor panel test was performed, which revealed somatic mutations in PALB2 and in ARID1, as well as a TP53 hotspot mutation.
- Published
- 2021
- Full Text
- View/download PDF
3. Minimally invasive repair of a left diaphragm hernia after debulking surgery for advanced ovarian cancer
- Author
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Sarah Ehmann, Bernard Park, and Dennis S. Chi
- Subjects
Diaphragmatic hernia ,Ovarian cancer ,Debulking surgical procedures ,Postoperative complications ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Eighty percent of women with ovarian cancer have advanced disease (FIGO stage III or IV) at the time of diagnoses and require extensive upper abdominal surgery to obtain complete gross resection (Minig et al., 2015; Eisenhauer et al., 2006). A diaphragmatic hernia is defined as abdominal contents bulging into the thoracic cavity (Spellar and Gupta, 2020). While rare following primary debulking surgery (PDS), these present with a variety of symptoms and are often misdiagnosed. Computed tomography (CT) is the diagnostic gold standard (Vertaldi et al., 2020). This video demonstrates repair of a left-sided complex diaphragm hernia via robotic video-assisted thoracic surgery in a 45-year-old with stage IVB ovarian cancer. She previously underwent extensive PDS, including modified posterior exenteration, bilateral salpingo-oophorectomy, omentectomy, bilateral pelvic lymph node dissection, appendectomy, bilateral diaphragm peritonectomy, splenectomy, resection of a right mediastinal lymph node, and insertion of a right chest tube. Complete gross resection was achieved. No left-sided diaphragm resection or repair was performed during the initial surgery. She received standard adjuvant chemotherapy with paclitaxel, carboplatin and bevacizumab. Six months postoperatively a surveillance CT scan revealed a small left hemidiaphragm hernia containing parts of the stomach. Although initially asymptomatic, she developed mild symptoms on follow-up, especially with lying supine. Imaging showed an increase in the size of the diaphragm defect. After completion of her maintenance bevacizumab therapy, corrective surgery was performed to prevent incarceration of the stomach. This video demonstrates the complex repair of this 4 × 6 cm defect located in the central tendon of the diaphragm. On two-week follow-up after corrective surgery, the patient’s symptoms had resolved.
- Published
- 2021
- Full Text
- View/download PDF
4. Diaphragm hernia after debulking surgery in patients with ovarian cancer
- Author
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Sarah Ehmann, Emeline M. Aviki, Yukio Sonoda, Thomas Boerner, Dib Sassine, David R. Jones, Bernard Park, Murray Cohen, Norman G. Rosenblum, and Dennis S. Chi
- Subjects
Diaphragmatic hernia ,Ovarian cancer ,Debulking surgical procedures ,Postoperative complications ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Over 80% of patients with epithelial ovarian cancer present with advanced disease, FIGO stage III or IV at the time of diagnosis. The majority require extensive upper abdominal surgery to obtain complete gross resection. This may include splenectomy, distal pancreatectomy, partial hepatectomy, cholecystectomy, and usually diaphragmatic peritonectomy or resection. Following surgery, diaphragmatic hernia—a very rare but serious complication—may occur.We describe four cases of left-sided diaphragmatic hernia resulting after debulking surgery, which included left diaphragm peritonectomy and splenectomy, in patients with advanced ovarian cancer. In association with the current shift towards more extensive debulking surgery for ovarian cancer, more patients may present with postoperative left-sided diaphragm hernia, making the prevention, diagnosis, and management of this complication important to practicing gynecologic oncologists. Intraoperatively the diaphragm should be checked thoroughly to rule out any defects, which should be closed. A diaphragmatic hernia may be easily misdiagnosed because the patient can present with various symptoms. While rare, these hernias require prompt identification, intervention and surgical correction to avoid serious complications.
- Published
- 2021
- Full Text
- View/download PDF
5. Case report: Sentinel lymph node mapping of endometrial carcinoma occurring in uterine didelphys
- Author
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Dib Sassine, Sara Moufarrij, Anjelica Hodgson, Sarah Ehmann, Nadeem R. Abu-Rustum, Sarah Chiang, and Elizabeth L. Jewell
- Subjects
Endometrial carcinoma ,Lymphadenectomy ,Uterine didelphys ,Sentinel lymph node mapping ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Published
- 2021
- Full Text
- View/download PDF
6. Acute pericarditis after transabdominal cardiophrenic lymph node dissection and pericardotomy during ovarian cancer debulking surgery: A case report
- Author
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Dib Sassine, Dimitrios Nasioudis, Kathryn Miller, Rebecca Chang, Derman Basaran, Evan S. Smith, Sarah Ehmann, and Dennis S. Chi
- Subjects
Ovarian cancer ,Complete cytoreduction ,Supradiaphragmatic lymph node dissection ,Pericarditis ,Gynecology and obstetrics ,RG1-991 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Published
- 2021
- Full Text
- View/download PDF
7. EP159/#428 Real-world experience and common adverse events when using combination lenvatinib and pembrolizumab for the treatment of recurrent uterine cancer
- Author
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William Zammarrelli, Kevin Espino, Effi Yeoshoua, Sarah Ehmann, Maria Rubinstein, Angela Green, and Vicky Makker
- Published
- 2022
- Full Text
- View/download PDF
8. EP214/#508 Outcomes and long-term follow-up by treatment type for patients with advanced-stage ovarian cancer managed at a tertiary cancer center
- Author
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Sarah Ehmann, Kelly Shay, Qin Zhou, Alexia Iasonos, Yukio Sonoda, Ginger Gardner, Kara Long Roche, William Zammarrelli, Roisin O’Cearbhaill, Oliver Zivanovic, and Dennis Chi
- Published
- 2022
- Full Text
- View/download PDF
9. Outcomes and long-term follow-up by treatment type for patients with advanced-stage ovarian cancer managed at a tertiary cancer center: A Memorial Sloan Kettering Cancer Center Team Ovary study
- Author
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Sarah Ehmann, Kelly Shay, Qin Zhou, Alexia Iasonos, Yukio Sonoda, Ginger J. Gardner, Kara Long Roche, William A. Zammarrelli, Effi Yeoushoua, Roisin E. O'Cearbhaill, Oliver Zivanovic, and Dennis S. Chi
- Subjects
Oncology ,Obstetrics and Gynecology - Abstract
To assess long-term outcomes of patients with advanced-stage ovarian cancer by treatment type.Patients with newly diagnosed stage III-IV ovarian cancer who underwent primary treatment at our tertiary cancer center from 01/01/2015-12/31/2015 were included. We reviewed electronic medical records for clinicopathological, treatment, and survival characteristics.Of 153 patients, 88 (58%) had stage III and 65 (42%) stage IV disease. Median follow-up was 65.8 months (range, 3.6-75.3). Eighty-nine patients (58%) underwent primary debulking surgery (PDS), 50 (33%) received neoadjuvant chemotherapy followed by interval debulking surgery (IDS), and 14 (9%) received chemotherapy alone, without surgery (NSx). Median PFS to first recurrence was 26.2 months (range, 20.1-36.2), 13.5 months (range, 12-15.1), and 4.2 months (range, 1.1-5.8) in the PDS, IDS, and NSx groups, respectively (P.001). At first recurrence/progression, 80 patients (72.7%) were treated with chemotherapy, 28 (25.5%) underwent secondary cytoreductive surgery (CRS) followed by chemotherapy, and 2 (1.8%) received no treatment. Seven patients (4.6%) underwent palliative surgery for malignant bowel obstruction. Overall, 62.7% received 1-3 lines of chemotherapy. The 5-year OS rates were 53.2% (95% CI: 44.7%-61%) for the entire cohort, 71.5% (95% CI: 60.2%-80%) for the PDS group, 35.2% (95% CI: 22.2-48.5%) for the IDS group, and 7.9% (95% CI: 0.5%-29.9%) for the NSx group.The longitudinal treatment modalities and outcomes of patients with advanced ovarian cancer described here can be useful for patient counseling, long-term planning, and future comparison studies.
- Published
- 2022
10. Risk Stratification of Stage I Grade 3 Endometrioid Endometrial Carcinoma in the Era of Molecular Classification
- Author
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William A. Zammarrelli, Sarah H. Kim, Arnaud Da Cruz Paula, Eric V. Rios-Doria, Sarah Ehmann, Effi Yeoshoua, Etta J. Hanlon, Qin Zhou, Alexia Iasonos, Kaled M. Alektiar, Carol Aghajanian, Vicky Makker, Mario M. Leitao, Nadeem R. Abu-Rustum, Lora H. Ellenson, Britta Weigelt, and Jennifer J. Mueller
- Subjects
Male ,Cancer Research ,Testicular Neoplasms ,Oncology ,Humans ,Female ,Prognosis ,Carcinoma, Endometrioid ,Lymphoma, Follicular ,Risk Assessment ,Endometrial Neoplasms - Abstract
PURPOSE The role of adjuvant therapy in stage I grade 3 endometrioid endometrial carcinoma (EEC) is debatable. We sought to define the agreement between Post Operative Radiation Therapy in Endometrial Carcinoma 1 (PORTEC-1) high-intermediate risk (HIR) and Gynecologic Oncology Group (GOG)-99 HIR criteria, assess their concordance with The Cancer Genome Atlas molecular subtypes, and evaluate oncologic outcomes in this population. METHODS We identified patients with stage I grade 3 EECs who underwent surgical staging at our institution from January 2014 to January 2020. Patients were stratified into PORTEC-1 HIR, GOG-99 HIR, and The Cancer Genome Atlas molecular subtypes. Adjuvant treatment, and progression-free survival (PFS), and overall survival (OS) were analyzed. RESULTS Seventy-five patients were included. The agreement between PORTEC-1 and GOG-99 HIR classification was 68% (95% CI, 56.2 to 78.3), with a kappa of 0.36 ( P = .001). There was no agreement between PORTEC-1 or GOG-99 HIR classification and a dichotomized molecular classification (copy number-high [CN-H] v other subtypes), with a kappa of 0.03 ( P = .39) and −0.03 ( P = .601), respectively. There was no difference in PFS between PORTEC-1 HIR and non-HIR (HR, 10.9; 95% CI, 0.28 to 4.21) or between GOG-99 HIR and non-HIR (HR, 1.22; 95% CI, 0.32 to 4.6) stage I grade 3 EECs. Patients with CN-H compared with non-CN-H EEC had worse PFS (HR, 5.67; 95% CI, 1.73 to 18.63) and OS (HR, 5.05; 95% CI, 1.13 to 22.5). CONCLUSION In surgically staged patients with stage I grade 3 EEC, PORTEC-1 and GOG-99 HIR criteria were not prognostic and did not identify CN-H patients. Patients with CN-H EEC had worse PFS and OS compared with those with other molecular subtypes. The integration of the molecular classification with recognized clinicopathologic factors may identify patients with higher-risk stage I grade 3 EEC who benefit from additional therapy.
- Published
- 2022
- Full Text
- View/download PDF
11. Gastric-type adenocarcinoma of the cervix: Clinical outcomes and genomic drivers
- Author
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Sarah Ehmann, Dib Sassine, Alli M. Straubhar, Aaron M. Praiss, Carol Aghajanian, Kaled M. Alektiar, Vance Broach, Karen A. Cadoo, Elizabeth L. Jewell, Amir Momeni Boroujeni, Chrisann Kyi, Mario M. Leitao, Jennifer J. Mueller, Rajmohan Murali, Shirin Issa Bhaloo, Roisin E. O'Cearbhaill, Kay J. Park, Yukio Sonoda, Britta Weigelt, Dmitriy Zamarin, Nadeem Abu-Rustum, and Claire F. Friedman
- Subjects
Oncology ,Obstetrics and Gynecology - Abstract
Gastric-type endocervical adenocarcinoma (GEA) is a rare form of cervical cancer not associated with human papilloma virus (HPV) infection. We summarize our experience with GEA at a large cancer center.Clinical and demographic information on all patients diagnosed with GEA between June 1, 2002 and July 1, 2019 was obtained retrospectively from clinical charts. Kaplan-Meier survival analysis was performed to describe progression-free survival (PFS) and overall survival (OS). Tumors from a subset of patients underwent next generation sequencing (NGS) analysis.A total of 70 women with GEA were identified, including 43 who received initial treatment at our institution: of these 4 (9%) underwent surgery alone, 15 (35%) underwent surgery followed by adjuvant therapy, 10 (23%) were treated with definitive concurrent chemoradiation (CCRT), 7 (16%) with chemotherapy alone, and 3 (7%) with neoadjuvant CCRT and hysterectomy with or without chemotherapy. One-third (n = 14) of patients experienced disease progression, of whom 86% (n = 12) had prior CCRT. The median PFS and OS for patients with stage I GEA were 107 months (95% CI 14.8-199.2 months) and 111 months (95% CI 17-205.1 months) respectively, compared to 17 months (95% CI 5.6-28.4 months) and 33 months (95% CI 28.2-37.8 months) for patients with stages II-IV, respectively. On NGS, 4 patients (14%) had ERBB2 alterations, including 2 patients who received trastuzumab.GEA is an aggressive form of cervical cancer with poor PFS and OS when diagnosed at stage II or later. Further investigation is needed to identify the optimal management approach for this rare subtype.
- Published
- 2022
12. Oncologic outcomes of secondary cytoreductive surgery in the era of poly (ADP-ribose) polymerase inhibitors maintenance (549)
- Author
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Sarah Ehmann, Clarissa Lam, Qin Zhou, Rachel Grisham, Kara Long Roche, Oliver Zivanovic, Yukio Sonoda, Dennis Chi, and Ginger Gardner
- Subjects
Oncology ,Obstetrics and Gynecology - Published
- 2022
- Full Text
- View/download PDF
13. Case report: Sentinel lymph node mapping of endometrial carcinoma occurring in uterine didelphys
- Author
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Sarah Ehmann, Sara Moufarrij, Nadeem R. Abu-Rustum, Anjelica Hodgson, Sarah Chiang, Dib Sassine, and Elizabeth L. Jewell
- Subjects
medicine.medical_specialty ,medicine.medical_treatment ,Case Report ,Endometrial carcinoma ,Sentinel lymph node mapping ,03 medical and health sciences ,0302 clinical medicine ,Carcinoma ,Medicine ,RC254-282 ,030219 obstetrics & reproductive medicine ,Lymph node mapping ,medicine.diagnostic_test ,business.industry ,Endometrial cancer ,Uterine didelphys ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Obstetrics and Gynecology ,Lymphadenectomy ,Gynecology and obstetrics ,Didelphys uterus ,medicine.disease ,Oncology ,030220 oncology & carcinogenesis ,RG1-991 ,Radiology ,business ,Endometrial biopsy - Abstract
Highlights • In a bleeding postmenopausal woman with didelphys uterus, endometrial biopsy should be taken from both uterine cavities. • Sentinel lymph node mapping has not been previously described in the setting of endometrial cancer and uterine didelphys. • Routine sentinel lymph node mapping was successfully performed in a patient with endometrial cancer and uterine didelphys.
- Published
- 2021
14. Diaphragm hernia after debulking surgery in patients with ovarian cancer
- Author
-
Dib Sassine, Dennis S. Chi, Norman G. Rosenblum, David R. Jones, Murray J. Cohen, Sarah Ehmann, Emeline M. Aviki, Bernard J. Park, Yukio Sonoda, and Thomas Boerner
- Subjects
medicine.medical_specialty ,Diaphragmatic hernia ,medicine.medical_treatment ,Splenectomy ,Diaphragmatic breathing ,03 medical and health sciences ,Postoperative complications ,0302 clinical medicine ,Peritonectomy ,Ovarian cancer ,Debulking surgical procedures ,medicine ,Hernia ,Case Series ,RC254-282 ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics and Gynecology ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Gynecology and obstetrics ,medicine.disease ,Debulking ,musculoskeletal system ,Surgery ,Oncology ,030220 oncology & carcinogenesis ,RG1-991 ,Cholecystectomy ,business - Abstract
Highlights • Left-sided diaphragm hernias are rare after extensive upper abdominal debulking surgery in advanced stage ovarian cancer. • A left-sided diaphragm hernia can easily be misdiagnosed because patients may present with a variety of different symptoms. • After peritonectomy of the diaphragm, the diaphragm should be carefully checked for defects; any defect must be repaired., Over 80% of patients with epithelial ovarian cancer present with advanced disease, FIGO stage III or IV at the time of diagnosis. The majority require extensive upper abdominal surgery to obtain complete gross resection. This may include splenectomy, distal pancreatectomy, partial hepatectomy, cholecystectomy, and usually diaphragmatic peritonectomy or resection. Following surgery, diaphragmatic hernia—a very rare but serious complication—may occur. We describe four cases of left-sided diaphragmatic hernia resulting after debulking surgery, which included left diaphragm peritonectomy and splenectomy, in patients with advanced ovarian cancer. In association with the current shift towards more extensive debulking surgery for ovarian cancer, more patients may present with postoperative left-sided diaphragm hernia, making the prevention, diagnosis, and management of this complication important to practicing gynecologic oncologists. Intraoperatively the diaphragm should be checked thoroughly to rule out any defects, which should be closed. A diaphragmatic hernia may be easily misdiagnosed because the patient can present with various symptoms. While rare, these hernias require prompt identification, intervention and surgical correction to avoid serious complications.
- Published
- 2021
15. Minimally invasive repair of a left diaphragm hernia after debulking surgery for advanced ovarian cancer
- Author
-
Dennis S. Chi, Sarah Ehmann, and Bernard J. Park
- Subjects
medicine.medical_specialty ,Diaphragmatic hernia ,03 medical and health sciences ,Postoperative complications ,0302 clinical medicine ,Ovarian cancer ,Debulking surgical procedures ,medicine ,Hernia ,RC254-282 ,030219 obstetrics & reproductive medicine ,Thoracic cavity ,business.industry ,Obstetrics and Gynecology ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Gynecology and obstetrics ,medicine.disease ,Debulking ,musculoskeletal system ,Diaphragm (structural system) ,Surgery ,medicine.anatomical_structure ,surgical procedures, operative ,Oncology ,Cardiothoracic surgery ,030220 oncology & carcinogenesis ,Mediastinal lymph node ,RG1-991 ,business ,Surgical Film - Abstract
Highlights • Left-sided diaphragm hernias are rare after extensive primary debulking surgery in advanced stage ovarian cancer. • After peritonectomy of the diaphragm, the diaphragm should be carefully checked for defects. Any defect must be repaired. • This video shows repair of a 4 × 6 cm left-sided complex diaphragm hernia via robotic video-assisted thoracic surgery., Eighty percent of women with ovarian cancer have advanced disease (FIGO stage III or IV) at the time of diagnoses and require extensive upper abdominal surgery to obtain complete gross resection (Minig et al., 2015, Eisenhauer et al., 2006). A diaphragmatic hernia is defined as abdominal contents bulging into the thoracic cavity (Spellar and Gupta, 2020). While rare following primary debulking surgery (PDS), these present with a variety of symptoms and are often misdiagnosed. Computed tomography (CT) is the diagnostic gold standard (Vertaldi et al., 2020). This video demonstrates repair of a left-sided complex diaphragm hernia via robotic video-assisted thoracic surgery in a 45-year-old with stage IVB ovarian cancer. She previously underwent extensive PDS, including modified posterior exenteration, bilateral salpingo-oophorectomy, omentectomy, bilateral pelvic lymph node dissection, appendectomy, bilateral diaphragm peritonectomy, splenectomy, resection of a right mediastinal lymph node, and insertion of a right chest tube. Complete gross resection was achieved. No left-sided diaphragm resection or repair was performed during the initial surgery. She received standard adjuvant chemotherapy with paclitaxel, carboplatin and bevacizumab. Six months postoperatively a surveillance CT scan revealed a small left hemidiaphragm hernia containing parts of the stomach. Although initially asymptomatic, she developed mild symptoms on follow-up, especially with lying supine. Imaging showed an increase in the size of the diaphragm defect. After completion of her maintenance bevacizumab therapy, corrective surgery was performed to prevent incarceration of the stomach. This video demonstrates the complex repair of this 4 × 6 cm defect located in the central tendon of the diaphragm. On two-week follow-up after corrective surgery, the patient’s symptoms had resolved.
- Published
- 2021
16. The role of secondary cytoreduction in recurrent, platinum-sensitive ovarian cancer: what do the trials tell us?
- Author
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Sarah Ehmann, Dennis S. Chi, and Oliver Zivanovic
- Subjects
Ovarian Neoplasms ,medicine.medical_specialty ,Obstetrics ,business.industry ,MEDLINE ,Obstetrics and Gynecology ,Cytoreduction Surgical Procedures ,General Medicine ,Carcinoma, Ovarian Epithelial ,Expert Opinion ,Oncology ,Obstetrics and gynaecology ,medicine ,Humans ,Female ,Neoplasms, Glandular and Epithelial ,Cisplatin ,business - Published
- 2020
17. Acute pericarditis after transabdominal cardiophrenic lymph node dissection and pericardotomy during ovarian cancer debulking surgery: A case report
- Author
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E. Smith, Dimitrios Nasioudis, Dennis S. Chi, Derman Basaran, Dib Sassine, Kathryn Miller, Rebecca Chang, and Sarah Ehmann
- Subjects
endocrine system ,medicine.medical_specialty ,endocrine system diseases ,Case Report ,lcsh:Gynecology and obstetrics ,lcsh:RC254-282 ,03 medical and health sciences ,Pericarditis ,0302 clinical medicine ,Acute pericarditis ,Ovarian cancer ,Medicine ,In patient ,Complete cytoreduction ,lcsh:RG1-991 ,030219 obstetrics & reproductive medicine ,business.industry ,Supradiaphragmatic lymph node dissection ,Obstetrics and Gynecology ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Debulking ,medicine.disease ,female genital diseases and pregnancy complications ,Surgery ,Dissection ,Oncology ,Cardiophrenic Lymph Node ,030220 oncology & carcinogenesis ,Pericardotomy ,business - Abstract
Highlights • Complete gross resection as part of debulking surgery is crucial in advanced ovarian cancer. • Supradiaphragmatic lymph node resection may prolong survival in patients with ovarian cancer. • We report acute pericarditis after supradiaphragmatic lymph node resection and pericardotomy.
- Published
- 2020
18. HISTOPATHOLOGICAL RESULTS AFTER RISK-REDUCING BILATERAL SALPINGO-OOPHORECTOMY IN BRCA1/2 MUTATION CARRIERS: SINGLE CENTER EXPERIENCE
- Author
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Nina Pauly, Sebastian Heikaus, Alexander Traut, Thaïs Baert, Stephanie Schneider, Philipp Harter, Beyhan Aaseven, Jan Philipp Ramspott, and Sarah Ehmann
- Published
- 2020
- Full Text
- View/download PDF
19. Prevalence of
- Author
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Beyhan, Ataseven, Denise, Tripon, Kerstin, Rhiem, Philipp, Harter, Stephanie, Schneider, Florian, Heitz, Thais, Baert, Alexander, Traut, Nina, Pauly, Sarah, Ehmann, Helmut, Plett, Rita K, Schmutzler, and Andreas, du Bois
- Subjects
ovarian cancer ,endocrine system diseases ,BRCA mutation ,Original Article/Originalarbeit ,Ovarialkarzinom ,GebFra Science ,hereditäres Mamma- und Ovarialkarzinom ,hereditary breast and ovarian cancer ,heritability checklist ,BRCA -Mutation ,Erblichkeits-Checkliste - Abstract
Background BRCA1/2 mutations are the leading cause of hereditary epithelial ovarian cancer (EOC). The German Consortium for Hereditary Breast and Ovarian Cancer has defined inclusion criteria, which are retrievable as a checklist and facilitate genetic counselling/testing for affected persons with a mutation probability of ≥ 10%. Our objective was to evaluate the prevalence of the BRCA1/2 mutation(s) based on the checklist score (CLS). Methods A retrospective data analysis was performed on EOC patients with a primary diagnosis treated between 1/2011 – 5/2019 at the Central Essen Clinics, where a BRCA1/2 genetic analysis result and a CLS was available. Out of 545 cases with a BRCA1/2 result (cohort A), 453 cases additionally had an extended gene panel result (cohort B). Results A BRCA1/2 mutation was identified in 23.3% (127/545) in cohort A, pathogenic mutations in non- BRCA1/2 genes were revealed in a further 6.2% in cohort B. In cohort A, 23.3% (127/545) of patients had a BRCA1 (n = 92) or BRCA2 (n = 35) mutation. Singular EOC (CLS 2) was present in 40.9%. The prevalence for a BRCA1/2 mutation in cohort A was 10.8%, 17.2%, 25.0%, 35.1%, 51.4% and 66.7% for patients with CLS 2, 3, 4, 5, 6 and ≥ 7 respectively. The mutation prevalence in cohort B was 15.9%, 16.4%, 28.2%, 40.4%, 44.8% and 62.5% for patients with CLS 2, 3, 4, 5, 6 and ≥ 7 respectively. Conclusions The BRCA1/2 mutation prevalence in EOC patients positively correlates with a rising checklist score. Already with singular EOC, the prevalence of a BRCA1/2 mutation exceeds the required 10% threshold. Our data support the recommendation of the S3 guidelines Ovarian Cancer of offering genetic testing to all patients with EOC. Optimisation of the checklist with clear identification of the testing indication in this population should therefore be aimed for.
- Published
- 2020
20. Isolated splenic high-grade serous carcinoma: A case report
- Author
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Sarah Ehmann, William P. Tew, Ralph Rogers, and Vance Broach
- Subjects
Pathology ,medicine.medical_specialty ,endocrine system diseases ,Serous carcinoma ,Somatic cell ,PALB2 ,Uterus ,Ovary ,Spleen ,Splenic Mullerian carcinoma ,PALB2 mutation ,03 medical and health sciences ,0302 clinical medicine ,Case Reports and Case Series ,Carcinoma ,medicine ,Pluripotent spleen cell ,RC254-282 ,030219 obstetrics & reproductive medicine ,business.industry ,High-grade serous carcinoma ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Obstetrics and Gynecology ,Cancer ,Gynecology and obstetrics ,medicine.disease ,medicine.anatomical_structure ,Oncology ,030220 oncology & carcinogenesis ,RG1-991 ,TP53 hotspot mutation ,business ,ARID1 somatic mutation - Abstract
Highlights • We present a unique case of high-grade serous carcinoma isolated to the spleen at the time of diagnosis. • This isolated splenic high-grade serous carcinoma was confirmed by radiologic, clinical, and pathologic assessment. • A multigene tumor panel test revealed somatic PALB2 and ARID1 mutations and a TP53 hotspot mutation., We present a unique case of high-grade serous carcinoma isolated to the spleen at the time of diagnosis, without any tumor present in the ovary, fallopian tubes, omentum or uterus, which was pathologically consistent with metastatic Mullerian carcinoma. Tumor sequencing with the MSK-IMPACT (Memorial Sloan Kettering–Integrated Mutation Profiling of Actionable Cancer Targets) multigene tumor panel test was performed, which revealed somatic mutations in PALB2 and in ARID1, as well as a TP53 hotspot mutation.
- Published
- 2021
- Full Text
- View/download PDF
21. Defining the Need for Surgery in Small-Bowel Obstruction
- Author
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Malte Weinrich, Ilaria Pergolini, Florian Kuehn, Ernst Klar, Sarah Ehmann, and Katja Kloker
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,medicine.medical_treatment ,Plain film ,Peritonitis ,Contrast Media ,030230 surgery ,Sensitivity and Specificity ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Intestine, Small ,medicine ,Humans ,Prospective Studies ,PROGRESSIVE SYMPTOMS ,Aged ,Diatrizoate Meglumine ,Aged, 80 and over ,business.industry ,Gastroenterology ,Bowel resection ,Middle Aged ,medicine.disease ,Surgery ,Conservative treatment ,Bowel obstruction ,Radiography ,Treatment Outcome ,030220 oncology & carcinogenesis ,Female ,business ,Algorithms ,Intestinal Obstruction - Abstract
Small-bowel obstruction is a frequent disorder in emergency medicine and represents a major burden for patients and health care systems worldwide. Within the past years, progress has been made regarding the management of small-bowel obstructions, including the use of contrast agent swallow as a tool in the decision-making process. This is a prospective controlled study investigating the central role of contrast agent swallow in the diagnostic and treatment algorithm for small-bowel obstruction at a university department of surgery. Endpoints were the correct identification of patients who needed operative treatment and the accuracy of a conservative treatment decision including the analysis of dropout from this routine algorithm. We performed a single-center analysis of 181 consecutive patients diagnosed with a small-bowel obstruction based on clinical, radiologic, and sonographic findings. Patients with clinical signs of strangulation or peritonitis underwent immediate surgery (group 1). Patients without signs of peritonitis and incomplete stop in the initial abdominal plain film were considered eligible for Gastrografin® challenge (group 2). Seventy-six of the 181 patients (42.0%) underwent immediate surgery. A Gastrografin® challenge was initialized in 105 of the 181 patients (58.0%). Twenty of these 105 patients (19.1%) with persisting or progressive symptoms and absence of contrast agent in the colon after 12 and 24 h subsequently underwent surgery. Here, a segmental bowel resection was necessary in 6 of these 20 patients (30.0%). In 16 out of 20 patients (80.0%) who failed the Gastrografin® challenge, a corresponding correlate in terms of a strangulation was detected intraoperatively. The Gastrografin® challenge had a specificity of 96% and a sensitivity of 100%; accuracy to predict the need for exploration was 96%. A straightforward algorithm based mainly on contrast agent swallow for patients with small-bowel obstructions enabled a timely and very accurate differentiation between patients qualifying for conservative and operative treatment.
- Published
- 2017
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