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2. Excisional treatment comparison for in situ endocervical adenocarcinoma (EXCISE): A phase 2 pilot randomized controlled trial to compare histopathological margin status, specimen size and fragmentation after loop electrosurgical excision procedure and cold knife cone biopsy

Author

Cohen, Paul A., Leung, Yee, Anderson, Lyndal, van der Griend, Rachael, Chivers, Paola, Bilic, Sanela, Bittinger, Sophie, Brand, Alison, Bulsara, Max K., Codde, Jim, Eva, Lois, Farrell, Louise, Harker, Dianne, Herbst, Unine, Jeffares, Stephanie, Loh, Diane, McNally, Orla, Mohan, Ganendra Raj, Nicholson, Tarryn, Powell, Aime, Salfinger, Stuart G., Simcock, Bryony, Stewart, Colin, Silvers, Julie, Stockler, Martin R., Sykes, Peter, Stoyles, Pennie, Tan, Adeline, Tan, Ai Ling, and Wrede, C. David H.

Published
2020
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3. Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data

Author

Aggarwal, Simi, Bronger, Holger, Brown, Elizabeth B., Buck, Martin, Bukhari, Syed A., Coghlan, Edwina, Cope, Nichola, de Almeida, Michelle Samora, De Kroon, Cornelius D., Dean, Andrew, Devlin, Michael-John, Ditzel, Helena M., Drecoll, Enken, Ebata, Takahiro, Fagotti, Anna, Faruqi, Asma, Feeney, Laura, Gupta, Kavita, Harley, Ian, Inzani, Frediano, Jeyarajah, Arjun R., Koay, M.H. Eleanor, Kroep, Judith R., Lee, Jung-Yun, Leung, Yee, Lockley, Michelle, Loft, Alice R., MaGee, Daniel, Manchanda, Ranjit, McKenna, Sarah, Midha, Divya, Millan, David, Millar, Joanne, Miller, Rowan, Mohan, Ganendra R., Mughal, Sohail, Mukhopadhyay, Asima, Nicolau, Sergio Mancini, Nevin, James, Oakley, Abigail S., Quigley, Mary, Rai, Bhavana, Rajwanshi, Arvind, Salfinger, Stuart G., Scambia, Giovanni, Scatchard, Kate, Schmalfeldt, Barbara, Simcock, Bryony, Singh, Priya, Strickland, Kyle C., Suri, Vainta, Syed, Sheeba, Sykes, Peter, Tamura, Kenji, Tan, Adeline, Tan, Jason, Thompson, Emily, Tinker, Anna V., Trevisan, Georgia, Uyeda, Maria Gabriela Baumgarten Kuster, Vaughan, Michelle M., Weichert, Wilko, Williams, Anthony, Williams, Sarah, Yoshida, Hiroshi, Zorzato, Pier Carlo, Cohen, Paul A., Powell, Aime, Böhm, Steffen, Gilks, C. Blake, Stewart, Colin J.R., Meniawy, Tarek M., Bulsara, Max, Avril, Stefanie, Brockbank, Eleanor C., Bosse, Tjalling, de Azevedo Focchi, Gustavo Rubino, Ganesan, Raji, Glasspool, Rosalind M., Howitt, Brooke E., Kim, Hyun-Soo, Le, Nhu D., Mandalia, Trupti, McCluggage, W. Glenn, McNeish, Iain, Srinivasan, Radhika, Tan, Yun Yi, van der Griend, Rachael, Yunokawa, Mayu, Zannoni, Gian F., and Singh, Naveena

Published
2019
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10. CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study

Author

Kang, Eun-Young, Weir, Ashley, Meagher, Nicola S, Farrington, Kyo, Nelson, Gregg S, Ghatage, Prafull, Lee, Cheng-Han, Riggan, Marjorie J, Bolithon, Adelyn, Popovic, Gordana, Leung, Betty, Tang, Katrina, Lambie, Neil, Millstein, Joshua, Alsop, Jennifer, Anglesio, Michael S, Ataseven, Beyhan, Barlow, Ellen, Beckmann, Matthias W, Berger, Jessica, Bisinotto, Christiani, Bösmüller, Hans, Boros, Jessica, Brand, Alison H, Brooks-Wilson, Angela, Brucker, Sara Y, Carney, Michael E, Casablanca, Yovanni, Cazorla-Jiménez, Alicia, Cohen, Paul A, Conrads, Thomas P, Cook, Linda S, Coulson, Penny, Courtney-Brooks, Madeleine, Cramer, Daniel W, Crowe, Philip, Cunningham, Julie M, Cybulski, Cezary, Darcy, Kathleen M, El-Bahrawy, Mona A, Elishaev, Esther, Erber, Ramona, Farrell, Rhonda, Fereday, Sian, Fischer, Anna, García, María J, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Gilks, C Blake, AOCS Group, Grube, Marcel, Harnett, Paul R, Harrington, Shariska Petersen, Harter, Philipp, Hartmann, Arndt, Hecht, Jonathan L, Heikaus, Sebastian, Hein, Alexander, Heitz, Florian, Hendley, Joy, Hernandez, Brenda Y, Polo, Susanna Hernando, Heublein, Sabine, Hirasawa, Akira, Høgdall, Estrid, Høgdall, Claus K, Horlings, Hugo M, Huntsman, David G, Huzarski, Tomasz, Jewell, Andrea, Jimenez-Linan, Mercedes, Jones, Michael E, Kaufmann, Scott H, Kennedy, Catherine J, Khabele, Dineo, Kommoss, Felix KF, Kruitwagen, Roy FPM, Lambrechts, Diether, Le, Nhu D, Lener, Marcin, Lester, Jenny, Leung, Yee, Linder, Anna, Loverix, Liselore, Lubiński, Jan, Madan, Rashna, Maxwell, G Larry, Modugno, Francesmary, Neuhausen, Susan L, Olawaiye, Alexander, Olbrecht, Siel, Orsulic, Sandra, Palacios, José, Pearce, Celeste Leigh, Pike, Malcolm C, Quinn, Carmel M, Mohan, Ganendra Raj, Rodríguez-Antona, Cristina, Ruebner, Matthias, Ryan, Andy, Salfinger, Stuart G, Sasamoto, Naoko, Schildkraut, Joellen M, Schoemaker, Minouk J, Shah, Mitul, Sharma, Raghwa, Shvetsov, Yurii B, Singh, Naveena, Sonke, Gabe S, Steele, Linda, Stewart, Colin, Sundfeldt, Karin, Swerdlow, Anthony J, Talhouk, Aline, Tan, Adeline, Taylor, Sarah E, Terry, Kathryn L, Tołoczko, Aleksandra, Traficante, Nadia, Van De Vijver, Koen K, Van Der Aa, Maaike A, Van Gorp, Toon, Van Nieuwenhuysen, Els, Van-Wagensveld, Lilian, Vergote, Ignace, Vierkant, Robert A, Wang, Chen, Wilkens, Lynne R, Winham, Stacey J, Wu, Anna H, Benitez, Javier, Berchuck, Andrew, Candido Dos Reis, Francisco J, DeFazio, Anna, Fasching, Peter A, Goode, Ellen L, Goodman, Marc T, Gronwald, Jacek, Karlan, Beth Y, Kommoss, Stefan, Menon, Usha, Sinn, Hans-Peter, Staebler, Annette, Brenton, James D, Bowtell, David D, Pharoah, Paul DP, Ramus, Susan J, Köbel, Martin, Meagher, Nicola S [0000-0001-9134-2118], Lee, Cheng-Han [0000-0003-2094-1222], Fereday, Sian [0000-0002-8559-8579], Kennedy, Catherine J [0000-0002-4465-5784], Sasamoto, Naoko [0000-0002-4526-2181], Schildkraut, Joellen M [0000-0002-0990-9339], Talhouk, Aline [0000-0001-7760-410X], Vergote, Ignace [0000-0002-7589-8981], Köbel, Martin [0000-0002-6615-2037], and Apollo - University of Cambridge Repository

Subjects
Ovarian Neoplasms, Oncogene Proteins, Carcinoma, Cystadenocarcinoma, Serous, ovarian cancer, high-grade serous carcinoma, Cyclin E, Humans, Female, prognosis, RNA, Messenger, CCNE1 amplification, cyclin E1 expression, Transcription Factors
Abstract

BACKGROUND: Cyclin E1 (CCNE1) is a potential predictive marker and therapeutic target in tubo-ovarian high-grade serous carcinoma (HGSC). Smaller studies have revealed unfavorable associations for CCNE1 amplification and CCNE1 overexpression with survival, but to date no large-scale, histotype-specific validation has been performed. The hypothesis was that high-level amplification of CCNE1 and CCNE1 overexpression, as well as a combination of the two, are linked to shorter overall survival in HGSC. METHODS: Within the Ovarian Tumor Tissue Analysis consortium, amplification status and protein level in 3029 HGSC cases and mRNA expression in 2419 samples were investigated. RESULTS: High-level amplification (>8 copies by chromogenic in situ hybridization) was found in 8.6% of HGSC and overexpression (>60% with at least 5% demonstrating strong intensity by immunohistochemistry) was found in 22.4%. CCNE1 high-level amplification and overexpression both were linked to shorter overall survival in multivariate survival analysis adjusted for age and stage, with hazard stratification by study (hazard ratio [HR], 1.26; 95% CI, 1.08-1.47, p = .034, and HR, 1.18; 95% CI, 1.05-1.32, p = .015, respectively). This was also true for cases with combined high-level amplification/overexpression (HR, 1.26; 95% CI, 1.09-1.47, p = .033). CCNE1 mRNA expression was not associated with overall survival (HR, 1.00 per 1-SD increase; 95% CI, 0.94-1.06; p = .58). CCNE1 high-level amplification is mutually exclusive with the presence of germline BRCA1/2 pathogenic variants and shows an inverse association to RB1 loss. CONCLUSION: This study provides large-scale validation that CCNE1 high-level amplification is associated with shorter survival, supporting its utility as a prognostic biomarker in HGSC.

Published
2023
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16. Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data

Author

Cohen, Paul A., Powell, Aime, Böhm, Steffen, Gilks, C. Blake, Stewart, Colin J.R., Meniawy, Tarek M., Bulsara, Max, Avril, Stefanie, Brockbank, Eleanor C., Bosse, Tjalling, de Azevedo Focchi, Gustavo Rubino, Ganesan, Raji, Glasspool, Rosalind M., Howitt, Brooke E., Kim, Hyun-Soo, Lee, Jung-Yun, Le, Nhu D., Lockley, Michelle, Manchanda, Ranjit, Mandalia, Trupti, McCluggage, W. Glenn, McNeish, Iain, Midha, Divya, Srinivasan, Radhika, Tan, Yun Yi, van der Griend, Rachael, Yunokawa, Mayu, Zannoni, Gian F., Singh, Naveena, Aggarwal, Simi, Bronger, Holger, Brown, Elizabeth B., Buck, Martin, Bukhari, Syed A., Coghlan, Edwina, Cope, Nichola, de Almeida, Michelle Samora, De Kroon, Cornelius D., Dean, Andrew, Devlin, Michael-John, Ditzel, Helena M., Drecoll, Enken, Ebata, Takahiro, Fagotti, Anna, Faruqi, Asma, Feeney, Laura, Gupta, Kavita, Harley, Ian, Inzani, Frediano, Jeyarajah, Arjun R., Koay, M.H. Eleanor, Kroep, Judith R., Leung, Yee, Loft, Alice R., MaGee, Daniel, McKenna, Sarah, Millan, David, Millar, Joanne, Miller, Rowan, Mohan, Ganendra R., Mughal, Sohail, Nicolau, Sergio Mancini, Nevin, James, Oakley, Abigail S., Quigley, Mary, Rai, Bhavana, Rajwanshi, Arvind, Salfinger, Stuart G., Scambia, Giovanni, Scatchard, Kate, Schmalfeldt, Barbara, Simcock, Bryony, Singh, Priya, Strickland, Kyle C., Suri, Vainta, Syed, Sheeba, Sykes, Peter, Tamura, Kenji, Tan, Adeline, Tan, Jason, Thompson, Emily, Tinker, Anna V., Trevisan, Georgia, Uyeda, Maria Gabriela Baumgarten Kuster, Vaughan, Michelle M., Weichert, Wilko, Williams, Anthony, Williams, Sarah, Yoshida, Hiroshi, and Zorzato, Pier Carlo

Abstract

Objective:\ud There is a need to develop and validate biomarkers for treatment response and survival in tubo-ovarian high-grade serous carcinoma (HGSC). The chemotherapy response score (CRS) stratifies patients into complete/near-complete (CRS3), partial (CRS2), and no/minimal (CRS1) response after neoadjuvant chemotherapy (NACT). Our aim was to review current evidence to determine whether the CRS is prognostic in women with tubo-ovarian HGSC treated with NACT.\ud \ud Methods:\ud We established an international collaboration to conduct a systematic review and meta-analysis, pooling individual patient data from 16 sites in 11 countries. Patients had stage IIIC/IV HGSC, 3–4 NACT cycles and >6-months follow-up. Random effects models were used to derive combined odds ratios in the pooled population to investigate associations between CRS and progression free and overall survival (PFS and OS).\ud \ud Results:\ud 877 patients were included from published and unpublished studies. Median PFS and OS were 15 months (IQR 5–65) and 28 months (IQR 7–92) respectively. CRS3 was seen in 249 patients (28%). The pooled hazard ratios (HR) for PFS and OS for CRS3 versus CRS1/CRS2 were 0·55 (95% CI, 0·45–0·66; P

Published
2019

18. Excisional Treatment  Comparison For  In  Situ  Endocervical Adenocarcinoma (EXCISE): A Phase 2 Pilot Randomised Controlled Trial to Compare Histopathological Margins Status, Specimen Size and Fragmentation after Loop Electrosurgical Excision Procedure and Cold Knife Cone Biopsy

Author

Cohen, Paul, primary, Leung, Yee, additional, Anderson, Lyndal, additional, van der Griend, Rachael, additional, Chivers, Paola, additional, Bilic, Sanela, additional, Bittinger, Sophie, additional, Brand, Alison, additional, Bulsara, Max, additional, Codde, Jim, additional, Eva, Lois, additional, Farrell, Louise, additional, Harker, Dianne, additional, Herbst, Unine, additional, Jeffares, Stephanie, additional, Loh, Diane, additional, McNally, Orla, additional, Mohan, Ganendra Raj, additional, Nicholson, Tarryn, additional, Powell, Aime, additional, Salfinger, Stuart G., additional, Simcock, Bryony, additional, Stewart, Colin J.R., additional, Silvers, Julie, additional, Stockler, Martin R., additional, Sykes, Peter, additional, Stoyles, Pennie, additional, Tan, Adeline, additional, Tan, Ai Ling, additional, and Wrede, C. David H., additional

Published
2020
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21. Prognostic Role of Histological Tumor Regression in Patients Receiving Neoadjuvant Chemotherapy for High-Grade Serous Tubo-ovarian Carcinoma

Author

Coghlan, Edwina, primary, Meniawy, Tarek M., additional, Munro, Aime, additional, Bulsara, Max, additional, Stewart, Colin JR, additional, Tan, Adeline, additional, Koay, MH Eleanor, additional, MaGee, Daniel, additional, Codde, Jim, additional, Tan, Jason, additional, Salfinger, Stuart G., additional, Mohan, Ganendra R., additional, Leung, Yee, additional, Nichols, Cassandra B., additional, and Cohen, Paul A., additional

Published
2017
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22. Risk of persistent or recurrent neoplasia in conservatively treated women with cervical adenocarcinoma in situ with negative histological margins

Author

Munro, Aime, primary, Codde, Jim, additional, Spilsbury, Katrina, additional, Stewart, Colin J.R., additional, Steel, Nerida, additional, Leung, Yee, additional, Tan, Jason, additional, Salfinger, Stuart G., additional, Mohan, Ganendra R., additional, Semmens, James B., additional, and Cohen, Paul A., additional

Published
2017
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24. Outcomes in women undergoing robotic‐assisted laparoscopic hysterectomy compared to conventional laparoscopic hysterectomy at a tertiary hospital in Western Australia.

Author

Rajadurai, Vinita A., Tan, Jason, Salfinger, Stuart G., and Cohen, Paul A.

Subjects
LENGTH of stay in hospitals, HYSTERECTOMY, LONGITUDINAL method, OPERATING rooms, POSTOPERATIVE care, SURGICAL complications, SURGICAL technology, WOMEN'S health, ENDOMETRIAL tumors, SURGICAL robots, TREATMENT effectiveness, RETROSPECTIVE studies, DATA analysis software, DESCRIPTIVE statistics, TERTIARY care
Abstract

Background: Robotic‐assisted laparoscopic hysterectomy (RALH) is associated with improved outcomes compared to open surgery in patients with endometrial cancer but data are conflicting when comparing RALH to conventional total laparoscopic hysterectomy (TLH). In October 2014, a RALH program was established in Perth, Western Australia. Aim: To compare outcomes in patients undergoing RALH with a matched cohort undergoing TLH. Materials and methods: A retrospective matched cohort study compared outcomes in 45 patients who underwent RALH with 45 controls who were patients treated with TLH. Results: Mean operating time was longer in the RALH group compared to controls (75.42 min vs 53.18 min, mean difference 22.24 min, P < 0.001, 95% Cl, 11.07–33.42). No differences were observed in mean pain scores (RALH 1.47 vs TLH 1.84 P = 0.31), mean parenteral and oral opioid use (RALH 14.3 mg and 42.4 mg vs TLH 17.5 mg and 52.57 mg, P = 0.42 and 0.42, respectively), and mean length of stay (RALH 1.51 vs TLH 1.67 days, P = 0.49). Two patients in the RALH group and one patient in the TLH group sustained iatrogenic bladder injuries (P = 0.62). Conclusion: The establishment of the RALH program at our institution appeared to be associated with equivalent morbidity, post‐operative pain, opioid use and length of stay compared to conventional laparoscopy. A surgical learning curve for RALH was observed. Well‐designed prospective studies are needed to further evaluate short‐ and long‐term patient function, morbidity, quality of life and oncologic outcomes. [ABSTRACT FROM AUTHOR]

Published
2018
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25. The Value of DICER1Mutation Analysis in “Subtle” Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix

Author

Yoon, Ju-Yoon, Apellaniz-Ruiz, Maria, Chong, Anne-Laure, Slim, Zena, Salfinger, Stuart G., Clarke, Blaise A., Stewart, Colin J.R., Foulkes, William D., and McCluggage, W. Glenn

Abstract

Embryonal rhabdomyosarcoma of the uterine cervix is a rare neoplasm which is almost invariably associated with pathogenic somatic or germline DICER1mutations; patients with germline mutations have DICER1 syndrome. We report 2 subtle cervical embryonal rhabdomyosarcoma, one occurring in a 21-yr-old woman with a known history of DICER1 syndrome and the other in a 19-yr-old woman with no history of DICER1 syndrome or DICER1-associated neoplasms. Both neoplasms focally involved otherwise benign endocervical polyps and were characterized histologically by subtle areas of increased stromal cellularity, nuclear atypia and mitotic activity; there was focal nuclear staining of these areas with the skeletal muscle markers myogenin and myoD1. In both cases, demonstration of a somatic DICER1RNase IIIb mutation in the tumor was instrumental in establishing the diagnosis. We believe these neoplasms represent the earliest discernible phase of cervical embryonal rhabdomyosarcoma. Pathologists should have a high index of suspicion when atypical stromal elements are present in endocervical polyps and immunohistochemistry together with DICER1sequencing will assist in diagnosis.

Published
2024
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29. Excisional treatment comparison for in situ endocervical adenocarcinoma (EXCISE): A phase 2 pilot randomized controlled trial to compare histopathological margin status, specimen size and fragmentation after loop electrosurgical excision procedure and cold knife cone biopsy

Author

<p>Australia New Zealand Gynaecological Oncology Group</p>, Cohen, Paul A., Leung, Yee, Anderson, Lyndal, van der Griend, Rachael, Chivers, Paola, Bilic, Sanela, Bittinger, Sophie, Brand, Alison, Bulsara, Max K., Codde, Jim, Eva, Lois, Farrell, Louise, Harker, Dianne, Herbst, Unine, Jeffares, Stephanie, Loh, Diane, McNally, Orla, Mohan, Ganendra Raj, Nicholson, Tarryn, Powell, Aime, Salfinger, Stuart G., Simcock, Bryony, Stewart, Colin, Silvers, Julie, Stockler, Martin R., Sykes, Peter, Stoyles, Pennie, Tan, Adeline, Tan, Ai Ling, Wrede, C. David H., <p>Australia New Zealand Gynaecological Oncology Group</p>, Cohen, Paul A., Leung, Yee, Anderson, Lyndal, van der Griend, Rachael, Chivers, Paola, Bilic, Sanela, Bittinger, Sophie, Brand, Alison, Bulsara, Max K., Codde, Jim, Eva, Lois, Farrell, Louise, Harker, Dianne, Herbst, Unine, Jeffares, Stephanie, Loh, Diane, McNally, Orla, Mohan, Ganendra Raj, Nicholson, Tarryn, Powell, Aime, Salfinger, Stuart G., Simcock, Bryony, Stewart, Colin, Silvers, Julie, Stockler, Martin R., Sykes, Peter, Stoyles, Pennie, Tan, Adeline, Tan, Ai Ling, and Wrede, C. David H.

Abstract

This is an author's accepted manuscript of: Cohen, P. A., Leung, Y., Anderson, L., van der Griend, R., Chivers, P., Bilic, S., ... Wrede, D. D. H. (2020). Excisional treatment comparison for in situ endocervical adenocarcinoma (EXCISE): A phase 2 pilot randomized controlled trial to compare histopathological margin status, specimen size and fragmentation after loop electrosurgical excision procedure and cold knife cone biopsy. Gynecologic Oncology, 159(3), 623-629. https://doi.org/10.1016/j.ygyno.2020.09.053

30. Activity behaviors and physiological characteristics of women with advanced-stage ovarian cancer: A preliminary cross-sectional investigation

Author

Schofield, Christelle, Newton, Robert, Cohen, Paul A., Galvao, Daniel A, McVeigh, Joanne, Hart, Nicolas H, Mohan, Ganendra, Tan, Jason, Salfinger, Stuart G., Straker, Leon M., Peddle-McIntyre, Carolyn J., Schofield, Christelle, Newton, Robert, Cohen, Paul A., Galvao, Daniel A, McVeigh, Joanne, Hart, Nicolas H, Mohan, Ganendra, Tan, Jason, Salfinger, Stuart G., Straker, Leon M., and Peddle-McIntyre, Carolyn J.

Abstract

Schofield, C., Newton, R. U., Cohen, P. A., Galvão, D. A., McVeigh, J. A., Hart, N. H., ... & Peddle-McIntyre, C. J. (2018). Activity behaviors and physiological characteristics of women with advanced-stage ovarian cancer: a preliminary cross-sectional investigation. International Journal of Gynecological Cancer, 28(3), 604-613. Available here

31. CCNE1 and survival of patients with tubo-ovarian high-grade serous carcinoma: An Ovarian Tumor Tissue Analysis consortium study.

Author

Kang EY, Weir A, Meagher NS, Farrington K, Nelson GS, Ghatage P, Lee CH, Riggan MJ, Bolithon A, Popovic G, Leung B, Tang K, Lambie N, Millstein J, Alsop J, Anglesio MS, Ataseven B, Barlow E, Beckmann MW, Berger J, Bisinotto C, Bösmüller H, Boros J, Brand AH, Brooks-Wilson A, Brucker SY, Carney ME, Casablanca Y, Cazorla-Jiménez A, Cohen PA, Conrads TP, Cook LS, Coulson P, Courtney-Brooks M, Cramer DW, Crowe P, Cunningham JM, Cybulski C, Darcy KM, El-Bahrawy MA, Elishaev E, Erber R, Farrell R, Fereday S, Fischer A, García MJ, Gayther SA, Gentry-Maharaj A, Gilks CB, Grube M, Harnett PR, Harrington SP, Harter P, Hartmann A, Hecht JL, Heikaus S, Hein A, Heitz F, Hendley J, Hernandez BY, Polo SH, Heublein S, Hirasawa A, Høgdall E, Høgdall CK, Horlings HM, Huntsman DG, Huzarski T, Jewell A, Jimenez-Linan M, Jones ME, Kaufmann SH, Kennedy CJ, Khabele D, Kommoss FKF, Kruitwagen RFPM, Lambrechts D, Le ND, Lener M, Lester J, Leung Y, Linder A, Loverix L, Lubiński J, Madan R, Maxwell GL, Modugno F, Neuhausen SL, Olawaiye A, Olbrecht S, Orsulic S, Palacios J, Pearce CL, Pike MC, Quinn CM, Mohan GR, Rodríguez-Antona C, Ruebner M, Ryan A, Salfinger SG, Sasamoto N, Schildkraut JM, Schoemaker MJ, Shah M, Sharma R, Shvetsov YB, Singh N, Sonke GS, Steele L, Stewart CJR, Sundfeldt K, Swerdlow AJ, Talhouk A, Tan A, Taylor SE, Terry KL, Tołoczko A, Traficante N, Van de Vijver KK, van der Aa MA, Van Gorp T, Van Nieuwenhuysen E, van-Wagensveld L, Vergote I, Vierkant RA, Wang C, Wilkens LR, Winham SJ, Wu AH, Benitez J, Berchuck A, Candido Dos Reis FJ, DeFazio A, Fasching PA, Goode EL, Goodman MT, Gronwald J, Karlan BY, Kommoss S, Menon U, Sinn HP, Staebler A, Brenton JD, Bowtell DD, Pharoah PDP, Ramus SJ, and Köbel M

Subjects
Female, Humans, Transcription Factors genetics, RNA, Messenger, Oncogene Proteins genetics, Oncogene Proteins therapeutic use, Cyclin E genetics, Ovarian Neoplasms pathology, Carcinoma, Cystadenocarcinoma, Serous genetics
Abstract

Background: Cyclin E1 (CCNE1) is a potential predictive marker and therapeutic target in tubo-ovarian high-grade serous carcinoma (HGSC). Smaller studies have revealed unfavorable associations for CCNE1 amplification and CCNE1 overexpression with survival, but to date no large-scale, histotype-specific validation has been performed. The hypothesis was that high-level amplification of CCNE1 and CCNE1 overexpression, as well as a combination of the two, are linked to shorter overall survival in HGSC., Methods: Within the Ovarian Tumor Tissue Analysis consortium, amplification status and protein level in 3029 HGSC cases and mRNA expression in 2419 samples were investigated., Results: High-level amplification (>8 copies by chromogenic in situ hybridization) was found in 8.6% of HGSC and overexpression (>60% with at least 5% demonstrating strong intensity by immunohistochemistry) was found in 22.4%. CCNE1 high-level amplification and overexpression both were linked to shorter overall survival in multivariate survival analysis adjusted for age and stage, with hazard stratification by study (hazard ratio [HR], 1.26; 95% CI, 1.08-1.47, p = .034, and HR, 1.18; 95% CI, 1.05-1.32, p = .015, respectively). This was also true for cases with combined high-level amplification/overexpression (HR, 1.26; 95% CI, 1.09-1.47, p = .033). CCNE1 mRNA expression was not associated with overall survival (HR, 1.00 per 1-SD increase; 95% CI, 0.94-1.06; p = .58). CCNE1 high-level amplification is mutually exclusive with the presence of germline BRCA1/2 pathogenic variants and shows an inverse association to RB1 loss., Conclusion: This study provides large-scale validation that CCNE1 high-level amplification is associated with shorter survival, supporting its utility as a prognostic biomarker in HGSC., (© 2022 The Authors. Cancer published by Wiley Periodicals LLC on behalf of American Cancer Society.)

Published
2023
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32. The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.

Author

Yoon JY, Apellaniz-Ruiz M, Chong AL, Slim Z, Salfinger SG, Clarke BA, Stewart CJR, Foulkes WD, and McCluggage WG

Subjects
Female, Germ-Line Mutation, Humans, Immunohistochemistry, Muscle, Skeletal pathology, Mutation, Rhabdomyosarcoma, Embryonal genetics, Rhabdomyosarcoma, Embryonal pathology, Uterine Cervical Neoplasms genetics, Uterine Cervical Neoplasms pathology, Young Adult, DEAD-box RNA Helicases genetics, Rhabdomyosarcoma, Embryonal diagnosis, Ribonuclease III genetics, Uterine Cervical Neoplasms diagnosis
Abstract

Embryonal rhabdomyosarcoma of the uterine cervix is a rare neoplasm which is almost invariably associated with pathogenic somatic or germline DICER1 mutations; patients with germline mutations have DICER1 syndrome. We report 2 subtle cervical embryonal rhabdomyosarcoma, one occurring in a 21-yr-old woman with a known history of DICER1 syndrome and the other in a 19-yr-old woman with no history of DICER1 syndrome or DICER1-associated neoplasms. Both neoplasms focally involved otherwise benign endocervical polyps and were characterized histologically by subtle areas of increased stromal cellularity, nuclear atypia and mitotic activity; there was focal nuclear staining of these areas with the skeletal muscle markers myogenin and myoD1. In both cases, demonstration of a somatic DICER1 RNase IIIb mutation in the tumor was instrumental in establishing the diagnosis. We believe these neoplasms represent the earliest discernible phase of cervical embryonal rhabdomyosarcoma. Pathologists should have a high index of suspicion when atypical stromal elements are present in endocervical polyps and immunohistochemistry together with DICER1 sequencing will assist in diagnosis., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 by the International Society of Gynecological Pathologists.)

Published
2021
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