|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We calculated the age at first neoplasm diagnosis (systematically ascertained cancers plus DICER1-associated neoplasms pleuropulmonary blastoma, cystic nephroma, and nasal chondromesenchymal hamartoma) in 102 female and male nonproband DICER1 carriers.
|
30715996 |
2019 |
|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy.
|
30989777 |
2019 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Key pathologic and genetic discriminators among this group of tumors include the DICER1 germline mutation found in PPB and the t(12,15)(p13;q25) translocation and ETV6-NTRK3 fusion gene seen in infantile fibrosarcoma.
|
30422774 |
2019 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in DICER1 are associated with an autosomal dominant hereditary cancer predisposition syndrome that confers an increased risk for the development of several rare childhood and adult-onset tumors, the most frequent of which include pleuropulmonary blastoma, ovarian sex cord-stromal tumors, cystic nephroma, and thyroid gland neoplasia.
|
29698806 |
2019 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities.
|
29881993 |
2018 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DICER1 gene have been considered a major etiologic factor of PPB and cause a variety of tumor types in children and young adults.
|
30585947 |
2018 |
|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The present case implies that ASK is a renal counterpart of PPB and that ASK with DICER1 abnormalities should be suspected in a broader age group than PPB.
|
27697588 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These ovarian sex cord-stromal tumors as well as other tumors including pleuropulmonary blastoma (PPB) may be associated with DICER1 mutations.
|
29037807 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma.
|
27441995 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A nonsense germ-line mutation in DICER1 causing a truncated protein at the IIIb domain level was identified segregating within a family including two affected relatives who developed in one case cystic nephroma and pleuropulmonary blastoma, and rhabdomyosarcoma and multinodular goiter in the other.
|
28222777 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DICER1 germline mutations are known to predispose individuals to the development of malignant tumors, mainly pleuropulmonary blastoma and ovarian Sertoli-Leydig cell tumor.
|
28012864 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
With increasing awareness of PPB, it is important for clinicians to consider this malignant entity in the evaluation and treatment of patients presenting with a cystic lung abnormality, especially in cases with a history strongly suggestive of a DICER1 mutation.
|
28991133 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB.
|
28624956 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
|
28323992 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis.
|
28688118 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The germline DICER1 mutation frequencies in PPB, CN, and SLCT were 66.9%, 73.2%, and 57.1%, respectively.
|
27906793 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma.
|
27896549 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.
|
28323992 |
2017 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although differentiated thyroid carcinoma (DTC) has been reported in some DICER1 mutation carriers with PPB treated with chemotherapy, the association of DTC with DICER1 mutations is not well established.
|
26555935 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
|
27459524 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
• DICER1 germline mutations are associated with an inherited cancer syndrome, most commonly pleuropulmonary blastoma, ovarian sex cord tumors, thyroid cysts/goitre, and cystic nephroma.
|
26526666 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome.
|
27442759 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Seventy per cent of CN have a DICER1 germline mutation.The majority of them (80%) have PPB.
|
26454454 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.
|
26698637 |
2016 |
|
Pleuropulmonary blastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report two cases of differentiated thyroid carcinoma associated with ovarian Sertoli-Leydig cell tumor and with a heterozygous DICER1 gene mutation, occurring in two unrelated young girls without pleuropulmonary blastoma.
|
26983701 |
2016 |