Recurrent YAP1-TFE3 Gene Fusions in Clear Cell Stromal Tumor of the Lung
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu kazuistiky, časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
P30 CA008748
NCI NIH HHS - United States
P50 CA140146
NCI NIH HHS - United States
P50 CA217694
NCI NIH HHS - United States
PubMed
33899786
PubMed Central
PMC8516668
DOI
10.1097/pas.0000000000001719
PII: 00000478-202111000-00011
Knihovny.cz E-zdroje
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- dospělí MeSH
- fenotyp MeSH
- fúze genů * MeSH
- genetická predispozice k nemoci MeSH
- hemangioblastom genetika sekundární chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory plic genetika patologie chirurgie MeSH
- pneumektomie MeSH
- senioři MeSH
- signální proteiny YAP MeSH
- solitární plicní uzel genetika patologie chirurgie MeSH
- transkripční faktory BHLH-Zip genetika MeSH
- transkripční faktory genetika MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Názvy látek
- adaptorové proteiny signální transdukční MeSH
- nádorové biomarkery MeSH
- signální proteiny YAP MeSH
- TFE3 protein, human MeSH Prohlížeč
- transkripční faktory BHLH-Zip MeSH
- transkripční faktory MeSH
- YAP1 protein, human MeSH Prohlížeč
Clear cell (hemangioblastoma-like) stromal tumor of the lung (CCST-L) is a recently described distinctive rare pulmonary neoplasm of unknown histogenesis and molecular pathogenesis. Only 7 cases have been reported in 2 recent studies, although additional cases might have been reported under the heading of extraneural pulmonary hemangioblastoma. We herein describe 4 CCST-L cases, 3 of them harboring a YAP1-TFE3 fusion. The fusion-positive tumors occurred in 3 women, aged 29, 56, and 69 years. All presented with solitary lung nodules measuring 2.3 to 9.5 cm. Histologically, all tumors showed similar features being composed of relatively uniform medium-sized epithelioid to ovoid cells with clear cytoplasm and small round monomorphic nuclei. Scattered larger cells with enlarged hyperchromatic nuclei and marked pleomorphism were noted in 2 cases. The tumors were associated with a hypervascularized stroma with variable but essentially subtle resemblance to capillary hemangioblastoma and perivascular epithelioid cell tumor (PEComa). Immunohistochemistry was negative for all lineage-specific markers. Targeted RNA sequencing showed a YAP1-TFE3 fusion in 3 of 4 cases. All 3 tumors showed homogeneous nuclear TFE3 immunoreactivity. Two patients were disease free at 36 and 12 months. The third patient had biopsy-proven synchronous renal and hepatic metastases, but extended follow-up is not available (recent case). The fourth case lacking the fusion affected a 66-year-old woman and showed subtle histologic differences from the fusion-positive cases, but had comparable TFE3 immunoreactivity. CCST-L represents a distinctive entity unrelated to hemangioblastoma and likely driven by recurrent YAP1-TFE3 fusions in most cases. The relationship of our cases to the recently reported "hemangioblastoma-like" CCST-L remains to be determined. Analysis of larger series is paramount to delineate the morphologic spectrum and biological behavior of this poorly characterized entity.
Bioptical Laboratory Ltd Plzen Czech Republic
Department of Pathology Charles University Faculty of Medicine in Plzen
Department of Pathology Memorial Sloan Kettering Cancer Center New York NY
Department of Thoracic Surgery Thoraxklinik Heidelberg University Hospital
Institute of Pathology Friedrich Alexander University Erlangen Nürnberg University Hospital Erlangen
Institute of Pathology University of Heidelberg Heidelberg Germany
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