Cervical embryonal rhabdomyosarcoma and ovarian Sertoli–Leydig cell tumour: a more than coincidental association of two rare neoplasms?

McClean, G.; Kurian, Susy; Walter, Noel; Kekre, A; McCluggage, W. Glenn

doi:10.1136/jcp.2006.039206

Cited by 36 publications

(20 citation statements)

References 18 publications

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“…Mutations are also occasionally found in other sex cord-stromal tumors. DICER1 mutations have also been demonstrated in thyroid goiters and cervical embryonal rhabdomyosarcoma, cystic nephroma, pleuropulmonary blastoma, and other embryonic tumors; these are rare neoplasms which occasionally coexist with Sertoli-Leydig cell tumor (39)(40)(41)(42). UTROSCTs have not been investigated previously for DICER1 mutations.…”

Section: Discussionmentioning

confidence: 94%

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Croce

Kock

Boshari

et al. 2016

International Journal of Gynecological Pathology

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Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare neoplasm which morphologically and immunohistochemically exhibits overlap with an ovarian sex cord tumor. Although many of these neoplasms are positive with markers of ovarian sex cord-stromal tumors, staining is often limited and the pathogenesis of UTROSCT is unknown. To further explore the sex cord lineage of UTROSCT, we studied 19 of these neoplasms and examined the expression of 2 recently described markers of ovarian sex cord-stromal tumors, FOXL2, and steroidogenic factor-1. We also undertook FOXL2 and DICER1 mutation analysis in these cases; a somatic missense mutation in codon C134W (402C→G) of FOXL2 gene has been demonstrated in the vast majority (>95%) of ovarian adult granulosa cell tumors and somatic DICER1 mutations are found in approximately 60% of ovarian Sertoli-Leydig cell tumors. Ten of 19 cases (53%) exhibited nuclear immunoreactivity with FOXL2 and 11 of 19 (58%) exhibited nuclear staining with steroidogenic factor-1. Neither FOXL2 nor DICER1 mutations were identified in any case where there was sufficient tumor tissue for analysis (18 and 9 cases, respectively). Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of UTROSCT.

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Section: Discussionmentioning

confidence: 94%

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Croce

Kock

Boshari

et al. 2016

International Journal of Gynecological Pathology

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“…In contrast to vaginal ERMS occurring in infants, cERMS typically occurs in adolescence [Daya and Scully, 1988]. Although causative factors are entirely unknown, cERMS have co-occurred with SLCT [Daya and Scully, 1988;Golbang et al, 1997;McClean et al, 2007] and PPB [Rome et al, 2008], strongly suggesting that DICER1 mutations could underlie their etiology.…”

Section: Introductionmentioning

confidence: 91%

Extending the phenotypes associated withDICER1mutations

Foulkes¹,

Bahubeshi²,

Hamel³

et al. 2011

Hum. Mutat.

176

125

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DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional families that manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) and primitive neuroectodermal tumor (cPNET, one case), Wilms tumor (WT, three cases), pulmonary sequestration (PS, one case), and juvenile intestinal polyp (one case). One carrier developed (age 25 years) a pleomorphic sarcoma of the thigh; another carrier had transposition of great arteries (TGA). These observations show that cERMS, cPNET, WT, PS, and juvenile polyps fall within the spectrum of DICER1-related diseases. DICER1 appears to be the first gene implicated in the etiology of cERMS, cPNET, and PS. Young adulthood sarcomas and perhaps congenital malformations such as TGA may also be associated.

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“…Features of embryonal rhabdomyosarcoma that may overlap with lowgrade Mullerian adenosarcoma include the findings of small blue cells that concentrate under the surface epithelium and around glands mimicking periglandular cuffing, fetal cartilage and rhabdomyoblasts, although cartilage is more common in the cervix than in the corpus or other locations. 53,54 Distinguishing features include high-grade cytologic atypia as well as mitotic activity and apoptosis in the small cells, alternating areas of hyper-and hypocellularity and paucity of Müllerian glands which are entrapped and not part of the neoplasm and do not show the typical phyllodes-like architecture. The hypocellular areas are often myxoid or edematous and may have aggregates of cells with more abundant eosinophilic cytoplasm including cross striations.…”

Section: Modern Pathology (2016) 29 S78-s91mentioning

confidence: 99%

“…Of note, there is a rare association between cervical embryonal rhabdomyosarcoma, ovarian Sertoli-Leydig cell tumour, cystic nephroma, thyroid goitres, pleuropulmonary blastoma and other embryonic neoplasms, and this is secondary to underlying somatic or germline DICER1 mutation. [50][51][52][53][54][55][56][57][58][59] Key practice points: uterine adenosarcoma 1. The diagnosis of adenofibroma should be made sparingly, if at all, as tumours classified as adenofibroma can behave in a similar manner to adenosarcoma.…”

Section: Modern Pathology (2016) 29 S78-s91mentioning

confidence: 99%

A practical approach to the diagnosis of mixed epithelial and mesenchymal tumours of the uterus

McCluggage

2016

Modern Pathology

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The current 2014 World Health Organization (WHO) Classification of mixed epithelial and mesenchymal tumours of the uterus includes categories of carcinosarcoma, adenosarcoma, adenofibroma, adenomyoma and atypical polypoid adenomyoma, the last two lesions being composed of an admixture of benign epithelial and mesenchymal elements with a prominent smooth muscle component. In this review, each of these categories of uterine neoplasm is covered with an emphasis on practical tips for the surgical pathologist and new developments. In particular, helpful clues in the distinction between carcinosarcoma and dedifferentiated endometrial carcinoma will be discussed. In addition, salient features to help distinguish between adenofibroma, adenosarcoma, embryonal rhabdomyosarcoma and other mesenchymal neoplasms in the differential diagnosis will be outlined. Finally, a discussion of adenomyoma and its main differential diagnostic considerations will be covered.

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Cervical embryonal rhabdomyosarcoma and ovarian Sertoli–Leydig cell tumour: a more than coincidental association of two rare neoplasms?

Cited by 36 publications

References 18 publications

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations

Extending the phenotypes associated withDICER1mutations

A practical approach to the diagnosis of mixed epithelial and mesenchymal tumours of the uterus

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