FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4320019455> ?p ?o ?g. }

• W4320019455 endingPage "141" @default.
• W4320019455 startingPage "134" @default.
• W4320019455 abstract "Pleuropulmonary blastoma (PPB) is a very rare tumor of childhood that arises from the mesenchyme of the lung and is associated with mutations in the DICER1 gene. The present article describes a familial case of DICER1 syndrome in a patient aged 3 years and 11 months who underwent investigations and treatment for type II/III PPB of the lower lobe of the left lung at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications. The diagnosis was made based on the results of the pathology investigation of the tissue obtained by open biopsy. Furthermore, the diagnosis was confirmed by the review of histological specimens in the International PPB Registry (Minneapolis, USA). According to the data from the chest CT with intravenous contrast enhancement, the tumor was described as a mass consisting of cystic cavities of various calibers accumulating a contrast agent along the periphery, and a solid component. Specific combination treatment was based on the recommendations of the International PPB Registry and included chemotherapy according to the IVADo/IVA regimen and surgical treatment as a local control. Currently, specific treatment has been completed, the patient is alive with no signs of the disease, the follow-up period was 20 months. As regards the patient's family history, he has a sibling (older brother) who was diagnosed with a cystic nephroma at the age of 1 year and 4 months. Molecular genetic testing of the tumor tissues obtained from the patient (PPB) and his sibling (cystic nephroma) revealed pathogenic somatic variants in the DICER1 gene. Along with the somatic genetic variants, another pathogenic variant was found in both children, the germline status of which was confirmed. The germline variant in the DICER1 gene was inherited from the mother. Thus, the investigations confirmed a familial case of DICER1 syndrome. The case described in this article indicates that families in which DICER1 syndrome was found require special management aimed at early detection of tumors and non-tumor conditions associated with this syndrome in the carriers of pathogenic alleles." @default.
• W4320019455 created "2023-02-11" @default.
• W4320019455 creator A5011755830 @default.
• W4320019455 creator A5058851398 @default.
• W4320019455 creator A5064041832 @default.
• W4320019455 creator A5069203730 @default.
• W4320019455 creator A5072178788 @default.
• W4320019455 creator A5076903999 @default.
• W4320019455 creator A5079210262 @default.
• W4320019455 creator A5090105429 @default.
• W4320019455 creator A5091101478 @default.
• W4320019455 date "2022-12-26" @default.
• W4320019455 modified "2023-10-06" @default.
• W4320019455 title "A familial case of <i>DICER1</i> syndrome in a patient with pleuropulmonary blastoma" @default.
• W4320019455 cites W1487815750 @default.
• W4320019455 cites W1948079023 @default.
• W4320019455 cites W1977065253 @default.
• W4320019455 cites W1989395650 @default.
• W4320019455 cites W2017344448 @default.
• W4320019455 cites W2031836248 @default.
• W4320019455 cites W2070156464 @default.
• W4320019455 cites W2112907352 @default.
• W4320019455 cites W2134465438 @default.
• W4320019455 cites W2165089436 @default.
• W4320019455 cites W2739706641 @default.
• W4320019455 cites W2792841925 @default.
• W4320019455 cites W2798046783 @default.
• W4320019455 cites W2804991991 @default.
• W4320019455 cites W2888279232 @default.
• W4320019455 cites W2913335143 @default.
• W4320019455 cites W3123080507 @default.
• W4320019455 cites W3145354796 @default.
• W4320019455 cites W3197511418 @default.
• W4320019455 cites W4248368809 @default.
• W4320019455 doi "https://doi.org/10.24287/1726-1708-2022-21-4-134-141" @default.
• W4320019455 hasPublicationYear "2022" @default.
• W4320019455 type Work @default.
• W4320019455 citedByCount "0" @default.
• W4320019455 crossrefType "journal-article" @default.
• W4320019455 hasAuthorship W4320019455A5011755830 @default.
• W4320019455 hasAuthorship W4320019455A5058851398 @default.
• W4320019455 hasAuthorship W4320019455A5064041832 @default.
• W4320019455 hasAuthorship W4320019455A5069203730 @default.
• W4320019455 hasAuthorship W4320019455A5072178788 @default.
• W4320019455 hasAuthorship W4320019455A5076903999 @default.
• W4320019455 hasAuthorship W4320019455A5079210262 @default.
• W4320019455 hasAuthorship W4320019455A5090105429 @default.
• W4320019455 hasAuthorship W4320019455A5091101478 @default.
• W4320019455 hasBestOaLocation W43200194551 @default.
• W4320019455 hasConcept C126322002 @default.
• W4320019455 hasConcept C141071460 @default.
• W4320019455 hasConcept C187212893 @default.
• W4320019455 hasConcept C61434518 @default.
• W4320019455 hasConcept C71924100 @default.
• W4320019455 hasConceptScore W4320019455C126322002 @default.
• W4320019455 hasConceptScore W4320019455C141071460 @default.
• W4320019455 hasConceptScore W4320019455C187212893 @default.
• W4320019455 hasConceptScore W4320019455C61434518 @default.
• W4320019455 hasConceptScore W4320019455C71924100 @default.
• W4320019455 hasIssue "4" @default.
• W4320019455 hasLocation W43200194551 @default.
• W4320019455 hasOpenAccess W4320019455 @default.
• W4320019455 hasPrimaryLocation W43200194551 @default.
• W4320019455 hasRelatedWork W113810927 @default.
• W4320019455 hasRelatedWork W1586374228 @default.
• W4320019455 hasRelatedWork W2003938723 @default.
• W4320019455 hasRelatedWork W2047967234 @default.
• W4320019455 hasRelatedWork W2118496982 @default.
• W4320019455 hasRelatedWork W2364998975 @default.
• W4320019455 hasRelatedWork W2369162477 @default.
• W4320019455 hasRelatedWork W2439875401 @default.
• W4320019455 hasRelatedWork W4238867864 @default.
• W4320019455 hasRelatedWork W2525756941 @default.
• W4320019455 hasVolume "21" @default.
• W4320019455 isParatext "false" @default.
• W4320019455 isRetracted "false" @default.
• W4320019455 workType "article" @default.