DICER1 Mutation in Recurrent Ovarian Sertoli-Leydig Cell Tumor: A Case Report

被引：1

作者：

Liu, Shalon ^{[1
]}

Pokoradi, Alida J. ^{[2
,5
]}

Soboleski, Donald ^{[3
]}

Childs, Timothy ^{[1
]}

Agrawal, Anita ^{[2
,4
]}

机构：

[1] Queens Univ, Dept Pathol & Mol Med, Kingston, ON, Canada

[2] Queens Univ, Dept Obstet & Gynaecol, Kingston, ON, Canada

[3] Queens Univ, Dept Diagnost Radiol, Kingston, ON, Canada

[4] Queens Univ, Div Gynaecol Oncol, Kingston, ON, Canada

[5] Juravinski Canc Ctr, Div Gynecol Oncol, 699 Concess St, Hamilton, ON L8V 5C2, Canada

来源：

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY | 2023年 / 36卷 / 02期

关键词：

Recurrence; Sertoli-Leydig cell tumor; DICER1; mutation; Sex cord-stromal tumor; adolescent; case report;

D O I：

10.1016/j.jpag.2022.11.003

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Background: DICER1 mutation has been linked to development of Sertoli-Leydig cell tumor and cystic nephroma, among other neoplasms. Case: We present a unique case of recurrent ovarian Sertoli-Leydig cell tumor in a pediatric patient with a known DICER1 mutation and history of cystic nephroma. She underwent surgical staging and adjuvant chemotherapy, and her recurrences have been treated with chemotherapy, whole-abdomen radiation therapy, and further surgical debulking. Conclusion: This report adds to the small body of evidence about this rare but unexpectedly highly aggressive tumor, especially in the recurrent setting, and reminds the reader of the importance of cancer diagnosis in this population.

引用

页码：107 / 111

页数：5

共 8 条

[1] DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors [J].

de Kock, Leanne ;

Terzic, Tatjana ;

McCluggage, W. Glenn ;

Stewart, Colin J. R. ;

Shaw, Patricia ;

Foulkes, William D. ;

Clarke, Blaise A. .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2017, 41 (09) :1178-1187

[2] DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma [J].

Doros, Leslie A. ;

Rossi, Christopher T. ;

Yang, Jiandong ;

Field, Amanda ;

Williams, Gretchen M. ;

Messinger, Yoav ;

Cajaiba, Mariana M. ;

Perlman, Elizabeth J. ;

Schultz, Kris A. ;

Cathro, Helen P. ;

Legallo, Robin D. ;

La Fortune, Kristin A. ;

Chikwava, Kudakwashe R. ;

Faria, Paulo ;

Geller, James I. ;

Dome, Jeffrey S. ;

Mullen, Elizabeth A. ;

Gratias, Eric J. ;

Dehner, Louis P. ;

Hill, D. Ashley .

MODERN PATHOLOGY, 2014, 27 (09) :1267-1280

[3]

KOONINGS PP, 1989, OBSTET GYNECOL, V74, P921

[4] DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies [J].

Schultz, Kris Ann P. ;

Williams, Gretchen M. ;

Kamihara, Junne ;

Stewart, Douglas R. ;

Harris, Anne K. ;

Bauer, Andrew J. ;

Turner, Joyce ;

Shah, Rachana ;

Schneider, Katherine ;

Schneider, Kami Wolfe ;

Carr, Ann Garrity ;

Harney, Laura A. ;

Baldinger, Shari ;

Frazier, A. Lindsay ;

Orbach, Daniel ;

Schneider, Dominik T. ;

Malkin, David ;

Dehner, Louis P. ;

Messinger, Yoav H. ;

Hill, D. Ashley .

CLINICAL CANCER RESEARCH, 2018, 24 (10) :2251-2261

[5] Multilocular cystic renal tumor: Cystic nephroma [J].

Silver, Ian M. F. ;

Boag, Alexander H. ;

Soboleski, Donald A. .

RADIOGRAPHICS, 2008, 28 (04) :1221-1225

[6] DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome [J].

Slade, Ingrid ;

Bacchelli, Chiara ;

Davies, Helen ;

Murray, Anne ;

Abbaszadeh, Fatemeh ;

Hanks, Sandra ;

Barfoot, Rita ;

Burke, Amos ;

Chisholm, Julia ;

Hewitt, Martin ;

Jenkinson, Helen ;

King, Derek ;

Morland, Bruce ;

Pizer, Barry ;

Prescott, Katrina ;

Saggar, Anand ;

Side, Lucy ;

Traunecker, Heidi ;

Vaidya, Sucheta ;

Ward, Paul ;

Futreal, P. Andrew ;

Vujanic, Gordan ;

Nicholson, Andrew G. ;

Sebire, Neil ;

Turnbull, Clare ;

Priest, John R. ;

Pritchard-Jones, Kathryn ;

Houlston, Richard ;

Stiller, Charles ;

Stratton, Michael R. ;

Douglas, Jenny ;

Rahman, Nazneen .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (04) :273-278

[7] DICER1 hotspot mutations in non-epithelial gonadal tumours [J].

Witkowski, L. ;

Mattina, J. ;

Schoenberger, S. ;

Murray, M. J. ;

Huntsman, D. G. ;

Reis-Filho, J. S. ;

McCluggage, W. G. ;

Nicholson, J. C. ;

Coleman, N. ;

Calaminus, G. ;

Schneider, D. T. ;

Arseneau, J. ;

Stewart, C. J. R. ;

Foulkes, W. D. .

BRITISH JOURNAL OF CANCER, 2013, 109 (10) :2744-2750

[8] OVARIAN SERTOLI LEYDIG-CELL TUMORS - A CLINICOPATHOLOGICAL ANALYSIS OF 207 CASES [J].

YOUNG, RH ;

SCULLY, RE .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 1985, 9 (08) :543-569

← 1 →