Cervical pleuropulmonary blastoma-like tumor associated with DICER1 and TP53 mutations Journal Article

   


Authors: Stolnicu, S.; Bartalis, R. J.; Mihut, E.; Szabo, B.; Da Cruz Paula, A.; Ye, Q.; Parkash, V.; Weigelt, B.; Soslow, R. A.
Article Title: Cervical pleuropulmonary blastoma-like tumor associated with DICER1 and TP53 mutations
Abstract: We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma-like tumor, associated with TP53 and DICER1 mutations. The tumor displayed usual histologic features including mixtures of embryonal rhabdomyosarcoma, sarcomatous cartilage, compact blastema, primitive spindle cells and anaplasia, akin to type III pleuropulmonary blastoma, and trabecular and retiform patterns. In addition to expanding the phenotypic spectrum of DICER1-associated conditions, we draw attention to genotype-phenotype correlations in DICER1-associated tumors, particularly as they relate to the discovery of a heritable tumor predisposition syndrome. © 2023 Lippincott Williams and Wilkins. All rights reserved.
Keywords: immunohistochemistry; child; human tissue; school child; gene mutation; human cell; genetics; mutation; histopathology; cancer patient; genetic analysis; metabolism; genetic association; pathology; protein p53; sarcoma; dead box protein; dead-box rna helicases; genetic susceptibility; tumor suppressor protein p53; attention; tp53 protein, human; uterine cervical neoplasms; uterine cervix tumor; cervix; anaplastic carcinoma; embryonal rhabdomyosarcoma; rhabdomyosarcoma, embryonal; dicer; ribonuclease iii; genotype phenotype correlation; cartilage; dicer1 protein, human; pulmonary blastoma; lung blastoma; humans; human; female; article; pleuropulmonary blastoma; endogenous compound; blastema; dicer1 -mutation; pleuropulmonary blastoma-like tumor; dicer1 syndrome
Journal Title: International Journal of Gynecological Pathology
Volume: 42
Issue: 4
ISSN: 0277-1691
Publisher: Lippincott Williams & Wilkins  
Date Published: 2023-07-01
Start Page: 347
End Page: 352
Language: English
DOI: 10.1097/pgp.0000000000000927
PUBMED: 36302256
PROVIDER: scopus
PMCID: PMC10357386
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85163558865&doi=10.1097%2fPGP.0000000000000927&partnerID=40&md5=6a7addc3ec634b200d3e12c904b7671b
Notes: The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PDF -- Source: Scopus
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MSK Authors
  1. Robert Soslow
    793 Soslow
  2. Britta Weigelt
    632 Weigelt
  3. Arnaud Fabian Da Cruz Paula
    145 Da Cruz Paula
  4. Qiqi Ye
    5 Ye
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