The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.
Journal
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
ISSN: 1538-7151
Titre abrégé: Int J Gynecol Pathol
Pays: United States
ID NLM: 8214845
Informations de publication
Date de publication:
01 Sep 2021
01 Sep 2021
Historique:
pubmed:
7
10
2020
medline:
21
12
2021
entrez:
6
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33021556
pii: 00004347-202109000-00003
doi: 10.1097/PGP.0000000000000718
doi:
Substances chimiques
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
435-440Informations de copyright
Copyright © 2020 by the International Society of Gynecological Pathologists.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Foulkes WD, Priest JR, Duchaine TF. DICER1: mutations, microRNAs and mechanisms. Nat Rev Cancer 2014;14:662–72.
McCluggage WG, Apellaniz-Ruiz M, Chong AL, et al. Embryonal rhabdomyosarcoma of the ovary and fallopian tube: rare neoplasms associated with germline and somatic DICER1 mutations. Am J Surg Pathol 2020;44:738–47.
de Kock L, Yoon J-Y, Apellaniz-Ruiz M, et al. Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Mod Pathol 2020;33:1207–19.
Koelsche C, Mynarek M, Schrimpf D, et al. Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol 2018;136:327–37.
Warren M, Hiemenz MC, Schmidt R, et al. Expanding the spectrum of dicer1-associated sarcomas. Mod Pathol 2020;33:164–74.
de Kock L, Geoffrion D, Rivera B, et al. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer 2018;57:223–30.
Bean GR, Anderson J, Sangoi AR, et al. DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation. Mod Pathol 2019;32:280–9.
Dehner LP, Jarzembowski JA, Hill DA. Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol 2012;25:602–14.
de Kock L, Boshari T, Martinelli F, et al. Adult-onset cervical embryonal rhabdomyosarcoma and DICER1 mutations. J Low Genit Tract Dis 2016;20:e8–10.
de Kock L, Rivera B, Revil T, et al. Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. Br J Cancer 2017;116:1621–6.
Doros L, Yang J, Dehner L, et al. DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer 2012;59:558–60.
Tomiak E, de Kock L, Grynspan D, et al. DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS). Pediatr Blood Cancer 2014;61:568–9.
Foulkes WD, Bahubeshi A, Hamel N, et al. Extending the phenotypes associated with DICER1 mutations. Hum Mutat 2011;32:1381–4.
Li RF, Gupta M, McCluggage WG, et al. Embryonal rhabdomyosarcoma (botryoid type) of the uterine corpus and cervix in adult women: report of a case series and review of the literature. Am J Surg Pathol 2013;37:344–55.
Cherniack AD, Shen H, Walter V, et al. Integrated molecular characterization of uterine carcinosarcoma. Cancer Cell 2017;31:411–23.
Integrated genomic characterization of endometrial carcinoma. Nature 2013;497:67–73.
Hodgson A, Amemiya Y, Seth A, et al. High-grade mullerian adenosarcoma: Genomic and clinicopathologic characterization of a distinct neoplasm with prevalent TP53 pathway alterations and aggressive behavior. Am J Surg Pathol 2017;41:1513–22.
Howitt BE, Sholl LM, Dal Cin P, et al. Targeted genomic analysis of Müllerian adenosarcoma. J Pathol 2015;235:37–49.
Piscuoglio S, Burke KA, Ng CKY, et al. Uterine adenosarcomas are mesenchymal neoplasms. J Pathol 2016;238:381–8.