DICER1 Mutation Detected in an Infant Guides Accurate Diagnosis of Auto-Amputated Embryonal Rhabdomyosarcoma

被引：2

作者：

Nashed, Lydia M. ^{[1
]}

Mayhew, Allison ^{[2
,3
]}

Gomez-Lobo, Veronica ^{[2
,3
]}

Lawlor, Christopher ^{[4
,5
,6
]}

机构：

[1] Inova Childrens Hosp, Dept Pediat, Falls Church, VA 22042 USA

[2] Childrens Natl Med Ctr, Pediat & Adolescent Gynecol, Washington, DC 20010 USA

[3] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Pediat & Adolescent Gynecol, NIH, Bethesda, MD USA

[4] Pediat Specialists Virginia, Dept Hematol Oncol, Falls Church, VA USA

[5] Inova Hlth Syst, Dept Pediat, Schar Canc Inst, Fairfax, VA USA

[6] George Washington Univ, Sch Med & Hlth Sci, Childrens Natl Hlth Syst, Ctr Canc & Blood Disorders, Washington, DC 20052 USA

来源：

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY | 2021年 / 34卷 / 06期

关键词：

DICER; 1; mutation; Embryonal Rhabdomyosarcoma; Vaginal tumor;

D O I：

10.1016/j.jpag.2021.08.006

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Background: The DICER1 mutation is a pathogenic, germline mutation that predisposes patients to uncommon malignancies at a young age. Case: A 6-month-old female infant presented with vaginal bleeding and a protruding vaginal mass of unclear pathogenesis. Chemotherapy was initially targeted toward a germ cell tumor; after pathologic testing and auto-amputation of the tumor, the patient was diagnosed with a rare DICER1-associated embryonal rhabdomyosarcoma. Subsequently, her treatment course was restructured and family genetic surveillance instituted. Summary and Conclusion: Consideration for DICER1 mutation in tumors with complex pathology and unique presentation is critical to aid in diagnosis and management, and direct future comprehensive surveillance.

引用

页码：865 / 868

页数：4