|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest at least 3 molecular subtypes of SLCT with distinct clinicopathologic features: DICER1 mutant (younger, more androgenic symptoms, moderately/poorly differentiated, retiform or heterologous elements), FOXL2 mutant (postmenopausal, abnormal bleeding, moderately/poorly differentiated, no retiform or heterologous elements), and DICER1/FOXL2 wild type (intermediate age, no retiform or heterologous elements, including all well-differentiated tumors).
|
30986800 |
2019 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We described the first case of heterotopic primary mesenteric SLCT without DICER1 hotspot mutation.
|
30935425 |
2019 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In summary, FATWO is characterized molecularly by the absence of KRAS/NRAS mutations (characteristic of mesonephric carcinoma), absence of DICER1 mutations (characteristic of Sertoli-Leydig cell tumor) and frequent KMT2D mutations of unknown biologic significance.
|
30134342 |
2019 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DICER1 hot-spot mutation is the key-driving event in a subset of gynandroblastomas containing components of SLCT and jGCT.
|
29660837 |
2018 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Detection of the DICER1 hotspot mutation alongside immunohistochemical analysis may provide a better diagnostic measure for ovarian Sertoli-Leydig cell tumors.
|
30072170 |
2018 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our goals are to review the workup of androgen-secreting tumors and discuss the clinical importance of the DICER1 mutation in the context of SLCT.
|
29366348 |
2018 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The patient age at diagnosis was lower in those with DICER1-mutated SLCTs (average, 24.7; range, 17-43) than in those with DICER1 wild-type tumors (average, 64.8; range, 47-77).
|
27664536 |
2017 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although the number of cases is limited, well-differentiated SLCTs appear to be DICER1-independent.
|
28654427 |
2017 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
Biomarker
|
disease |
BEFREE |
Other DICER1-associated conditions were seen in 19% of patients with SLCT or GAB.
|
29037807 |
2017 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition to the recurrent DICER1 mutations reported in non-hereditary cases of Sertoli cell and Sertoli-Leydig cell tumors, recurrent somatic mutations in both the juvenile (j) and adult (a) forms of GCT have been reported.
|
27813081 |
2017 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our case also emphasizes the need for testing for DICER1 mutations in pediatric patients with ovarian SLCTs.
|
28502826 |
2017 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DICER1 germline mutation carriers have an increased predisposition to cancer, such as pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT), and a high prevalence of multinodular goiter (MNG).
|
26555935 |
2016 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have elucidated the relationship between Sertoli-Leydig cell tumors and DICER1 mutations.
|
27858560 |
2016 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
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.
|
26598979 |
2016 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Regarding gonadal manifestations, sex-cord stromal neoplasia of the ovary, especially Sertoli-Leydig cell tumour (SLCT), is the most frequent tumour associated with DICER1 germline mutation.
|
26454454 |
2016 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we further revealed that the global expression of 5p-derived miRNAs was dramatically reduced in ovarian Sertoli-Leydig cell tumors carrying DICER1 hotspot mutations compared with those without DICER1 hotspot mutation.
|
26408257 |
2015 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No association was found between DICER1 mutation status and the presence of heterologous or retiform differentiation in Sertoli-Leydig cell tumors.
|
26428316 |
2015 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, patients with germline mutations in DICER1 are predisposed to developing a range of rare neoplasms including ovarian sex cord-stromal tumors most of which have been classified as Sertoli-Leydig cell tumor.
|
25844550 |
2015 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using Sanger sequencing, we screened all DICER1 exons and intron boundaries in 20 suspected mutation carriers: nine with ovarian sex cord-stromal tumors (including Sertoli-Leydig cell tumors (SLCTs)), five with pleuropulmonary blastoma, one with cystic nephroma, one with nasal chondromesenchymal hamartoma and four with more than one manifestation suggestive of a germ-line DICER1 mutation.
|
24065110 |
2014 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this brief report, a maternal history of SLCT led to identification of a deleterious DICER1 mutation in the patient and her asymptomatic infant.
|
24821309 |
2014 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
|
21205968 |
2011 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.
|
21205968 |
2011 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
|
21266384 |
2011 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
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).
|
21882293 |
2011 |
|
Sertoli-Leydig Cell Tumor
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
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).
|
21882293 |
2011 |