Case Report: Circulating Tumor DNA Fraction Analysis Using Ultra-Low-Pass Whole-Genome Sequencing Correlates Response to Chemoradiation and Recurrence in Stage IV Small-Cell Carcinoma of the Cervix-A Longitudinal Study

被引：5

作者：

Abbas, Ata ^{[1
]}

Gruner, Morgan ^{[2
]}

Karohl, Jennifer ^{[2
]}

Rose, Peter G. ^{[2
]}

Joehlin-Price, Amy ^{[3
]}

Stover, Daniel ^{[4
,5
]}

Mahdi, Haider ^{[2
,6
,7
,8
]}

机构：

[1] Case Western Reserve Univ, Dept Med, Div Hematol & Oncol, Cleveland, OH 44135 USA

[2] Gynecol & Womens Hlth Inst, Div Gynecol Oncol Obstet, Cleveland, OH 44135 USA

[3] Cleveland Clin, Pathol & Lab Med Inst, Dept Anat Pathol, Cleveland, OH 44135 USA

[4] James Canc Hosp, Stefanie Spielman Comprehens Breast Ctr, Div Med Oncol, Wexner Med Ctr, Columbus, OH 43201 USA

[5] Ohio State Univ, Wexner Med Ctr, Solove Res Inst, Columbus, OH 43201 USA

[6] Cleveland Clin, Taussig Canc Inst, Translat Hematol Oncol Res Dept, Cleveland, OH 44135 USA

[7] Cleveland Clin, Lerner Res Inst, Genom Med Inst, Cleveland, OH 44135 USA

[8] Univ Pittsburgh, Med Ctr, Magee Womens Hosp & Magee, Womens Res Inst, Pittsburgh, PA 15212 USA

来源：

FRONTIERS IN ONCOLOGY | 2021年 / 11卷

关键词：

ctDNA; ULP-WGS; tumor fraction; response to chemo-radiation; small cell carcinoma; cervix; COPY-NUMBER ALTERATION; NEUROENDOCRINE CARCINOMA; UTERINE CERVIX; CANCER; SURVIVAL;

D O I：

10.3389/fonc.2021.652683

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Neuroendocrine carcinoma of the cervix is a rare and aggressive form of cervical cancer that presents with frequent metastasis at diagnosis and high recurrence rates. Primary treatment is multimodal, which often includes chemotherapy with or without radiation therapy. There are no data available to guide treatment for recurrence, and second-line therapies are extrapolated from small-cell lung carcinoma data. Close monitoring of these patients for recurrence is paramount. Evaluation of circulating tumor DNA (ctDNA) in the peripheral blood is an attractive approach due to its non-invasive nature. Ultra-low-pass whole-genome sequencing (ULP-WGS) can assess tumor burden and response to therapy and predict recurrence; however, data are lacking regarding the role of ULP-WGS in small-cell carcinoma of the cervix. This study demonstrates a patient whose response to chemotherapy and cancer recurrence was accurately monitored by ctDNA analysis using ULP-WGS and confirmed with radiologic imaging findings.

引用

页数：7

共 24 条

[1] Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors [J].

Adalsteinsson, Viktor A. ;

Ha, Gavin ;

Freeman, Samuel S. ;

Choudhury, Atish D. ;

Stover, Daniel G. ;

Parsons, Heather A. ;

Gydush, Gregory ;

Reed, Sarah C. ;

Rotem, Denisse ;

Rhoades, Justin ;

Loginov, Denis ;

Livitz, Dimitri ;

Rosebrock, Daniel ;

Leshchiner, Ignaty ;

Kim, Jaegil ;

Stewart, Chip ;

Rosenberg, Mara ;

Francis, Joshua M. ;

Zhang, Cheng-Zhong ;

Cohen, Ofir ;

Oh, Coyin ;

Ding, Huiming ;

Polak, Paz ;

Lloyd, Max ;

Mahmud, Sairah ;

Helvie, Karla ;

Merrill, Margaret S. ;

Santiago, Rebecca A. ;

O'Connor, Edward P. ;

Jeong, Seong H. ;

Leeson, Rachel ;

Barry, Rachel M. ;

Kramkowski, Joseph F. ;

Zhang, Zhenwei ;

Polacek, Laura ;

Lohr, Jens G. ;

Schleicher, Molly ;

Lipscomb, Emily ;

Saltzman, Andrea ;

Oliver, Nelly M. ;

Marini, Lori ;

Waks, Adrienne G. ;

Harshman, Lauren C. ;

Tolaney, Sara M. ;

Van Allen, Eliezer M. ;

Winer, Eric P. ;

Lin, Nancy U. ;

Nakabayashi, Mari ;

Taplin, Mary-Ellen ;

Johannessen, Cory M. .

NATURE COMMUNICATIONS, 2017, 8

[2]

ALBORESSAAVEDRA J, 1976, CANCER-AM CANCER SOC, V38, P2328, DOI 10.1002/1097-0142(197612)38:6<2328::AID-CNCR2820380620>3.0.CO

[3]

2-J

[4]

AMBROS RA, 1991, MODERN PATHOL, V4, P586

[5] Nivolumab alone and nivolumab plus ipilimumab in recurrent small-cell lung cancer (CheckMate 032): a multicentre, open-label, phase 1/2 trial [J].

Antonia, Scott J. ;

Lopez-Martin, Jose A. ;

Bendell, Johanna ;

Ott, Patrick A. ;

Taylor, Matthew ;

Eder, Joseph Paul ;

Jaeger, Dirk ;

Pietanza, M. Catherine ;

Le, Dung T. ;

de Braud, Filippo ;

Morse, Michael A. ;

Ascierto, Paolo A. ;

Horn, Leora ;

Amin, Asim ;

Pillai, Rathi N. ;

Evans, Jeffry ;

Chau, Ian ;

Bono, Petri ;

Atmaca, Akin ;

Sharma, Padmanee ;

Harbison, Christopher T. ;

Lin, Chen-Sheng ;

Christensen, Olaf ;

Calvo, Emiliano .

LANCET ONCOLOGY, 2016, 17 (07) :883-895

[6] The landscape of somatic copy-number alteration across human cancers [J].

Beroukhim, Rameen ;

Mermel, Craig H. ;

Porter, Dale ;

Wei, Guo ;

Raychaudhuri, Soumya ;

Donovan, Jerry ;

Barretina, Jordi ;

Boehm, Jesse S. ;

Dobson, Jennifer ;

Urashima, Mitsuyoshi ;

Mc Henry, Kevin T. ;

Pinchback, Reid M. ;

Ligon, Azra H. ;

Cho, Yoon-Jae ;

Haery, Leila ;

Greulich, Heidi ;

Reich, Michael ;

Winckler, Wendy ;

Lawrence, Michael S. ;

Weir, Barbara A. ;

Tanaka, Kumiko E. ;

Chiang, Derek Y. ;

Bass, Adam J. ;

Loo, Alice ;

Hoffman, Carter ;

Prensner, John ;

Liefeld, Ted ;

Gao, Qing ;

Yecies, Derek ;

Signoretti, Sabina ;

Maher, Elizabeth ;

Kaye, Frederic J. ;

Sasaki, Hidefumi ;

Tepper, Joel E. ;

Fletcher, Jonathan A. ;

Tabernero, Josep ;

Baselga, Jose ;

Tsao, Ming-Sound ;

Demichelis, Francesca ;

Rubin, Mark A. ;

Janne, Pasi A. ;

Daly, Mark J. ;

Nucera, Carmelo ;

Levine, Ross L. ;

Ebert, Benjamin L. ;

Gabriel, Stacey ;

Rustgi, Anil K. ;

Antonescu, Cristina R. ;

Ladanyi, Marc ;

Letai, Anthony .

NATURE, 2010, 463 (7283) :899-905

[7] Incidence mortality, and prognostic factors of small cell carcinoma of the cervix [J].

Chen, Jergin ;

Macdonald, O. Kenneth ;

Gaffney, David K. .

OBSTETRICS AND GYNECOLOGY, 2008, 111 (06) :1394-1402

[8] Tumor fraction in cell-free DNA as a biomarker in prostate cancer [J].

Choudhury, Atish D. ;

Werner, Lillian ;

Francini, Edoardo ;

Wei, Xiao X. ;

Ha, Gavin ;

Freeman, Samuel S. ;

Rhoades, Justin ;

Reed, Sarah C. ;

Gydush, Gregory ;

Rotem, Denisse ;

Lo, Christopher ;

Taplin, Mary-Ellen ;

Harshman, Lauren C. ;

Zhang, Zhenwei ;

O'Connor, Edward P. ;

Stover, Daniel G. ;

Parsons, Heather A. ;

Getz, Gad ;

Meyerson, Matthew ;

Love, J. Christopher ;

Hahn, William C. ;

Adalsteinsson, Viktor A. .

JCI INSIGHT, 2018, 3 (21)

[9] Prognostic value of circulating tumor DNA in patients with colon cancer: Systematic review [J].

Fan, Gaowei ;

Zhang, Kuo ;

Yang, Xin ;

Ding, Jiansheng ;

Wang, Zujian ;

Li, Jinming .

PLOS ONE, 2017, 12 (02)

[10] Phase II study of pembrolizumab efficacy and safety in women with recurrent small cell neuroendocrine carcinoma of the lower genital tract [J].

Frumovitz, Michael ;

Westin, Shannon N. ;

Salvo, Gloria ;

Zarifa, Abdulrazzak ;

Xu, Mingxuan ;

Yap, Timothy A. ;

Rodon, Ahnert J. ;

Karp, Daniel D. ;

Abonofal, Abdulrahman ;

Jazaeri, Amir A. ;

Naing, Aung .

GYNECOLOGIC ONCOLOGY, 2020, 158 (03) :570-575

← 1 2 3 →