Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add more filters










Database
Language
Publication year range
1.
Int J Clin Exp Pathol ; 16(10): 303-308, 2023.
Article in English | MEDLINE | ID: mdl-37970333

ABSTRACT

Eosinophilic Solid and Cystic Renal Cell Carcinoma (ESC RCC) is a rare entity described in the latest WHO Classification of Urinary and Male Genital Tumours (2022 edition). It is a neoplasm that occurs most often in a sporadic setting, with no association with tuberous sclerosis complex (TSC). It typically presents as a well demarcated, non-encapsulated lesion, with solid and cystic architecture, composed of cells with voluminous eosinophilic cytoplasm and cytoplasmic stippling. Tumor cells are at least focally immunohistochemically (IHC) reactive for CK20. CD10 and Cathepsin K are positive in most cases. Consistent somatic mutually exclusive mutations in the TSC1 and TSC2 genes are detected in ESC RCC. We describe two ESC RCC cases diagnosed at our institution. Both cases occurred in female patients, ages of 33 and 64, respectively. Both patients had no evidence of TSC and both lesions were found incidentally, by imaging studies, at an early stage. Macroscopic and microscopic findings in both neoplasms were classic. One case was analyzed by molecular testing and TSC2 gene mutation was detected. Both cases had focal positivity of CD10 and Cathepsin K by IHC. Both tumors were stage pT1a at diagnosis and the patients remained free of disease after resection. It has been proposed that TSC1/2 can be a molecular marker for ESC RCC and be used to expand the morphologic spectrum of ESC RCC. As a novel rare subtype of renal cell carcinoma, with very limited data on molecular evaluation, it is useful to document these newly diagnosed ESC RCC cases.

2.
Int J Mol Sci ; 24(16)2023 Aug 15.
Article in English | MEDLINE | ID: mdl-37628996

ABSTRACT

Oncogenic Yes-associated protein (YAP) 1 fusions have been recently identified in several cases of meningioma mostly involving pediatric patients. The meningiomas harboring YAP1-MAML2, which is the most frequent fusion subtype, exhibit activated YAP1 signaling and share similarities with NF2 (neurofibromatosis type 2 gene) mutant meningiomas. We reported a rare case of atypical intraparenchymal meningioma with YAP1-MAML2 fusion in a 20-year-old male. The patient presented with an episode of seizure without a medical history. MRI revealed a lesion in the right temporal lobe without extra-axial involvement. The radiological and morphological findings, however, were indistinctive from other intracranial diseases, e.g., vascular malformation and glioma. Immunohistochemical results confirmed the presence of abundant meningothelial cells in the tumor and indicated brain invasion, supporting the diagnosis of atypical intraparenchymal meningioma. Targeted RNA fusion analysis further identified a YAP1-MAML2 rearrangement in the tumor. Non-dural-based intraparenchymal meningiomas are uncommon, and the careful selection of specific tumor markers is crucial for an accurate diagnosis. Additionally, the detection of the fusion gene provides valuable insights into the oncogenic mechanism of meningioma.


Subject(s)
Meningeal Neoplasms , Meningioma , Humans , Male , Young Adult , Child , Adult , Meningioma/diagnostic imaging , Meningioma/genetics , Genes, Neurofibromatosis 2 , Adaptor Proteins, Signal Transducing/genetics , Signal Transduction , Transcription Factors/genetics , Meningeal Neoplasms/diagnostic imaging , Meningeal Neoplasms/genetics , Trans-Activators/genetics
3.
JACC Case Rep ; 3(13): 1541-1544, 2021 Oct 06.
Article in English | MEDLINE | ID: mdl-34693356

ABSTRACT

A 48-year-old woman underwent preoperative cardiac testing prior to gastric bypass. She was incidentally found to have a right atrial mass on transthoracic echocardiography. Subsequent cardiac magnetic resonance confirmed this finding. She underwent excision of the mass. Tissue pathology revealed ectopic hepatic tissue. (Level of Difficulty: Advanced.).

SELECTION OF CITATIONS
SEARCH DETAIL
...