Background: Melanotic Xp11 translocation renal cancer (TRC) is a newly described exceedingly rare tumor, and its characterization remains controversial. This study aimed to describe a case of distinctive melanotic Xp11 TRC and to elucidate its clinicopathological and molecular genetic features.
Case Presentation: A 44-year-old Chinese female presented with a left renal mass. Abdominal ultrasonography and computed tomography (CT) scans revealed a 4.5 cm × 4.0 cm mass in the left kidney. Grossly, the well-demarcated mass was black with moderately firm consistency. Microscopic examination indicated that the tumor was characterized by the presence of nests and cords of polygonal cells with clear and granular eosinophilic cytoplasm, central round to oval nuclei and occasional nucleoli. Intracytoplasmic melanin was observed in approximately 45% of tumor cells. Uniquely, the tumor presented with intranuclear eosinophilic pseudoinclusions and thick-walled stromal blood vessels. IHC showed that tumor cells were diffusely positive for TFE3 and exhibited patchy and weak HMB45 staining. FISH confirmed the presence of TFE3 rearrangement.
Conclusion: This case is the twentieth published case of melanotic Xp11 TRC. Moreover, the present patient had a favorable prognosis given that she was disease free at her 113-month postoperative follow-up. Our case adds to the small body of literature on these exceptionally rare tumors and widens their clinicopathological spectrum.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090727 | PMC |
http://dx.doi.org/10.1186/s13000-018-0731-y | DOI Listing |
Pediatr Blood Cancer
January 2023
Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
J Pathol
August 2020
Department of Pathology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, PR China.
The classification of the distinct group of mesenchymal neoplasms, first described as 'Xp11 translocation perivascular epithelioid cell tumor (PEComa)' and for which the term 'melanotic Xp11 neoplasm' or 'Xp11 neoplasm with melanocytic differentiation' has recently been proposed, remains challenging and controversial. We collected 27 melanotic Xp11 neoplasms, the largest series to date, for a comprehensive evaluation. Fourteen of the cases, together with eight alveolar soft part sarcomas (ASPS), nine conventional PEComas and a control group of seven normal tissues were submitted to RNA sequencing.
View Article and Find Full Text PDFInt J Clin Exp Pathol
March 2020
Department of Pathology, Jinhua Central Hospital, Zhejiang University School of Medicine Jinhua, Zhejiang Province, China.
This article reports the pathologic features and malignant biological behavior of a perivascular epithelioid cell neoplasm (PEComa) with the clinical manifestation being endometrial polyps. The case was cured with curettage in a local hospital one year ago. The postoperative diagnosis was "endometrial polyps".
View Article and Find Full Text PDFAsian J Urol
October 2019
Department of Pathology and Urology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
The microphthalmia (MiT) subfamily of transcription factors includes TFE3, TFEB, TFEC, and MITF. In the 2016 World Health Organization classification, MiT family translocation renal cell carcinoma (tRCC) including Xp11 tRCC and t(6;11) RCC, was newly defined as an RCC subtype. Xp11 and t(6;11) RCC are characterized by the rearrangement of the MiT transcription factors TFE3 and TFEB, respectively.
View Article and Find Full Text PDFHistol Histopathol
February 2020
Department of Pathology, University of Tennessee Health Science Center, Memphis, TN, USA.
Microphthalmia (MiT) family translocation renal cell carcinomas (RCCs) are a heterogeneous category of renal tumors which all express MiT transcription factors, typically from chromosomal translocation and rarely from gene amplification. This tumor family has two major subtypes [i.e.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!