A Tale of 2 Morphologies: Diagnostic Pitfalls in TFEB-Associated Renal Cell Carcinomas, Including a Novel NEAT1-TFEB Fusion

2020 ◽  
pp. 106689692095627
Author(s):  
Aarti E. Sharma ◽  
Megan Parilla ◽  
Pankhuri Wanjari ◽  
Jeremy P. Segal ◽  
Tatjana Antic
Keyword(s):  
Renal Cell ◽  
Correct Diagnosis ◽  
Epithelioid Cell ◽  
World Health ◽  
Renal Tumors ◽  
Renal Neoplasm ◽  
Renal Cell Carcinomas ◽  
Perivascular Epithelioid Cell ◽  
Variable Morphology ◽  
Health Organization

Aims Translocation-associated renal cell carcinomas (RCCs) have been extensively subcharacterized in recent years, such that each is largely recognized by the 2016 World Health Organization as categorical neoplastic entities in the genitourinary tract. Those belonging to the t(6;11) family of tumors classically have a fusion between TFEB and MALAT1/α, and display a particular histomorphology. Specifically, they show a biphasic population of both small and large epithelioid cells, the smaller component of which surrounds basement membrane-type material. Despite this apt description, the tumors have variable morphology and mimic other RCCs including those with TFE3 translocations. Therefore, a high degree of suspicion is required to make the correct diagnosis. Methods The 2 cases described in this article were of strikingly different appearance, and initially considered consistent with other non-translocation–associated renal tumors. These included clear cell RCC (CCRCC), perivascular epithelioid cell tumor (PEComa), and other eosinophilic RCCs (mainly papillary RCC type 2). Results Using RNA sequencing techniques, they were found to harbor distinct pathogenic rearrangements involving the TFEB gene, namely, fusions with CLTC and NEAT1 (the latter partnering heretofore never reported). Conclusions These alterations manifested in 2 notably dissimilar lesions, underscoring the importance of including this family of carcinomas in the differential of any renal neoplasm that does not display immunophenotypic characteristics consistent with its morphology.

scholarly journals Perirenal PEComa: Computed Tomography Findings and Differential Diagnosis

2015 ◽  
Vol 5 ◽  
pp. 69 ◽  
Author(s):  
Christos V Gkizas ◽  
Athina C Tsili ◽  
Christos Katsios ◽  
Maria I Argyropoulou
Keyword(s):  
Computed Tomography ◽  
Differential Diagnosis ◽  
Imaging Techniques ◽  
Epithelioid Cell ◽  
World Health ◽  
Biological Behavior ◽  
Mesenchymal Tumors ◽  
Cross Sectional ◽  
Perivascular Epithelioid Cell ◽  
Health Organization

The World Health Organization defines perivascular epithelioid cell tumors (PEComas) as mesenchymal tumors and tumor-like conditions composed of epithelioid cells with a perivascular distribution. These tumors may show benign or malignant histology and/or biological behavior. However, the pathological features of malignancy may not correlate with biologic aggressiveness, and the criteria for malignancy are not clearly defined. Abdominopelvic PEComas are very rare and have been reported in various locations, including kidney, liver, pancreas, gastrointestinal tract, genitourinary tract, peritoneum, and retroperitoneum. Cross-sectional imaging techniques, including computed tomography (CT) may play an important role in the accurate detection and characterization of these tumors. We present the third case of an extremely rare PEComa with perirenal location, discuss CT findings and differential diagnosis.

scholarly journals Perivascular Epithelioid Cell Tumour with Intraorbital Location: Report of a Case and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Idania Lubo ◽  
Ileana Fermín ◽  
Olindo Massarelli ◽  
Roberta Gobbi ◽  
Paolo Cossu Rocca
Keyword(s):  
Clinical Outcome ◽  
Clinical Course ◽  
Mitotic Rate ◽  
Epithelioid Cell ◽  
World Health ◽  
Review Of The Literature ◽  
Perivascular Epithelioid Cell ◽  
Mesenchymal Neoplasms ◽  
The World ◽  
Health Organization

The Perivascular Epithelioid Cell tumours (PEComas) are rare mesenchymal neoplasms recognized as entity by the World Health Organization. The tumour cells have an uncertain origin and are characterized by distinctive histological and immunohistochemical features. We report a case of PEComa occurring as intraorbital lesion in a 47-year-old man. We found only two other cases described in the literature and we considered all three cases together in order of histology, immunohistochemistry, and clinical outcome. We found a strict histological overlapping and quite similar immunohistological results. All three cases showed a favourable clinical course probably related to small size of tumours (<5 cm), low mitotic rate (<2 mitoses in 50 HPF), and absence of necrosis.

The Diagnostic Accuracy of Percutaneous Renal Needle Core Biopsy and Its Potential Impact on the Clinical Management of Renal Cortical Neoplasms

2014 ◽  
Vol 138 (12) ◽  
pp. 1673-1679 ◽  
Author(s):  
Lan L. Gellert ◽  
Rohit Mehra ◽  
Ying-Bei Chen ◽  
Anuradha Gopalan ◽  
Samson W. Fine ◽  
...  
Keyword(s):  
Clinical Management ◽  
Renal Cell ◽  
Core Biopsy ◽  
Clear Cell ◽  
Renal Tumors ◽  
Low Grade ◽  
Renal Cell Carcinomas ◽  
Biopsy Diagnosis ◽  
Potential Impact ◽  
Renal Cortical Neoplasms

Context While biopsies are now increasingly being performed for the diagnosis of renal cortical neoplasms, the influence of the rendered pathological diagnoses on the clinical management is only rarely documented. Objectives To report our experience with consecutively performed renal biopsies and the potential impact of the diagnosis on subsequent clinical management. Design Material from needle biopsies performed consecutively at our institution between 2006 and 2011 was reviewed. The influence of the reported pathology results on the clinical management was determined from patient follow-up medical record review. Results In total, 218 percutaneous biopsies for renal masses were performed during this period. Among them, 181 (83%) yielded neoplastic tissue, including 81 clear cell renal cell carcinomas, 29 low-grade oncocytic neoplasms, 7 papillary renal cell carcinomas, 5 clear cell papillary renal cell carcinomas, 5 angiomyolipomas, and 14 urothelial carcinomas. Fourteen additional cases (6%) contained lesional material from clinically known nonneoplastic processes, for a total diagnostic yield of 89%. Twenty-three (11%) were nonrepresentative of lesional tissue. In 10 of these, repeat biopsies or resections established the diagnosis of renal tumors. Biopsy diagnosis was confirmed in 29 of 30 cases (97%) on subsequent nephrectomy. Following the biopsy diagnosis, there were significant differences in the clinical management; overall, 79% of clear cell renal cell carcinomas received therapeutic interventions, and 17% were put on active surveillance. In contrast, 77% of the benign or low-grade lesions were put on active surveillance. Conclusions Accurate and specific diagnosis can be rendered on renal core biopsy in most renal tumors, and the biopsy diagnosis can have a definitive role in their clinical management.

Value of intravoxel incoherent motion for differential diagnosis of renal tumors

2018 ◽  
Vol 60 (3) ◽  
pp. 382-387 ◽  
Author(s):  
Qingqiang Zhu ◽  
Wenrong Zhu ◽  
Jing Ye ◽  
Jingtao Wu ◽  
Wenxin Chen ◽  
...  
Keyword(s):  
Renal Cell ◽  
Clear Cell ◽  
Threshold Value ◽  
Intravoxel Incoherent Motion ◽  
Renal Tumors ◽  
Threshold Values ◽  
Renal Cell Carcinomas ◽  
Perfusion Fraction ◽  
D Values ◽  
Tumor Types

Background Few studies have reported on the use of intravoxel incoherent motion (IVIM) for renal tumors. Purpose To investigate the value of IVIM for distinguishing renal tumors. Material and Methods Thirty-one patients with clear cell renal cell carcinomas (CCRCCs), 13 patients with renal angiomyolipomas with minimal fat (RAMFs), eight patients with chromophobe renal cell carcinomas (ChRCCs), and ten patients with papillary renal cell carcinomas (PRCCs) were examined. The tissue diffusivity (D), pseudodiffusivity (D*), and perfusion fraction (f) were calculated. Results The D and f values were highest for CCRCCs, lowest for PRCCs, and intermediate for ChRCCs and RAMFs ( P < 0.05). The D values of CCRCCs differed significantly from those of ChRCCs and PRCCs ( P < 0.05). The D* values were highest for RAMFs, lowest for ChRCCs, and intermediate for CCRCCs and PRCCs ( P < 0.05). Statistically significant differences were observed between the D* values of CCRCCs and RAMFs ( P < 0.05). The D* values of the CCRCCs differed significantly from the D* values of the ChRCCs ( P < 0.05). Using the D and f values of 1.10 and 0.41, respectively, as the threshold values for differentiating CCRCCs from RAMFs, ChRCCs, and PRCCs, the best results had sensitivities of 81.0% and 66.8% and specificities of 85.7% and 81.0%, respectively. Using the D* value of 0.038 as the threshold value for differentiating RAMFs from CCRCCs, ChRCCs, and PRCCs, the best result obtained had a sensitivity of 90.5% and specificity of 76.2%. Conclusion IVIM may provide information for differentiating renal tumor types.

Renal Angiomyolipoma

2001 ◽  
Vol 125 (6) ◽  
pp. 751-758 ◽  
Author(s):  
Chad H. Stone ◽  
Min W. Lee ◽  
Mahul B. Amin ◽  
Hadi Yaziji ◽  
Allen M. Gown ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Renal Cell ◽  
Epithelioid Cell ◽  
Renal Angiomyolipoma ◽  
Epithelioid Cells ◽  
Renal Cell Carcinomas ◽  
Spindle Cells ◽  
Ultrastructural Characteristics ◽  
Hmb 45 ◽  
Common Cell

Abstract Background.—Renal angiomyolipoma is a benign tumor histologically characterized by proliferation of spindle cells, epithelioid cells, and adipocytic cells in concert with many thick-walled blood vessels. To add further diagnostic confusion, an epithelioid cell–predominant variant of renal angiomyolipoma has recently been described. HMB-45 immunoreactivity correlates with ultrastructural striated organelles that closely resemble premelanosomes, although no evidence of melanogenesis has been documented in this tumor. Objective.—To further characterize the immunophenotypic and ultrastructural profile of renal angiomyolipoma based on phenotypic cell type (epithelioid, spindle, and adipocytic cell). Design.—Formalin-fixed, paraffin-embedded tissues from 27 renal angiomyolipomas and 8 renal cell carcinomas were immunostained with monoclonal antibodies to the melanoma-associated antigens HMB-45, HMB-50, NKI/C3 (CD63), and tyrosinase; the smooth muscle–related antigens calponin and muscle-specific actin (HHF-35); S100; and cytokeratin (CK). All renal angiomyolipomas were also immunostained with a polyclonal antibody to renin. Ultrastructural examination was performed on 9 selected cases. Results.—All renal angiomyolipomas stained positive for HMB-45, HMB-50, NKI/C3, muscle-specific actin (HHF-35), and calponin. Overall, HMB-45, HMB-50, and NKI/C3 preferentially stained the epithelioid cells. Tyrosinase staining was present in 50% of the renal angiomyolipomas with adequate tissue for staining (12 of 24 cases); positive staining and intensity paralleled HMB-45, HMB-50, and NKI/C3. Muscle-specific actin (HHF-35) and calponin preferentially stained the spindle cells. The adipocytic cells stained positive for both melanoma-associated antigens and smooth muscle antigens. Epithelioid cells, spindle cells, and adipocytic cells were CK, S100, and renin negative. Ultrastructural findings paralleled immunohistochemical staining patterns. Premelanosome-like organelles and electron dense granules were more readily detected in the epithelioid cells within the tumor, whereas ultrastructural characteristics of smooth muscle cells were more easily found in the spindle cells. All renal cell carcinomas stained positive for CK, NKI/C3 staining was variable, and all were negative for HMB-45, HMB-50, smooth muscle actin (HHF-35), and calponin. Conclusion.—In renal angiomyolipoma, the epithelioid and spindle cells have preferential staining patterns for melanoma-associated antigens versus smooth muscle antigens, respectively. Positivity in renal angiomyolipoma for HMB-50, NKI/C3, and tyrosinase, in addition to HMB-45, provides evidence for the presence of different melanoma-associated gene products. Immunophenotypic overlap of the 3 histologically distinct renal angiomyolipoma cell populations suggests a common cell line, supporting a unitarian concept for renal angiomyolipoma. Ultrastructural characteristics of the 3 renal angiomyolipoma cell phenotypes parallel the immunophenotype, giving further support to a common cell line. Our study lends further credence to the perivascular epithelioid cell concept as proposed by Bonetti and colleagues.

Vimentin Reactivity in Renal Oncocytoma: Immunohistochemical Study of 234 Cases

2007 ◽  
Vol 131 (12) ◽  
pp. 1782-1788 ◽  
Author(s):  
Ondrej Hes ◽  
Michal Michal ◽  
Naoto Kuroda ◽  
Guido Martignoni ◽  
Matteo Brunelli ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Renal Cell ◽  
Imaging System ◽  
Large Series ◽  
Renal Tumors ◽  
Renal Oncocytoma ◽  
Renal Cell Carcinomas ◽  
Central Scar ◽  
Renal Oncocytomas ◽  
The Difference

Abstract Context.—The expression of vimentin in benign renal oncocytomas has been controversal. However, this is of clinical significance because immunostains may be used in differential diagnosis of renal tumors on limited biopsy specimens. Using different staining and analysis methods, we studied vimentin immunoreactivity in a large series of renal oncocytomas with a special emphasis on the immunoreactivity patterns. Objective.—Immunohistochemical expression of vimentin has been used in the differential diagnosis of renal epithelial neoplasms. Although typically expressed in most renal cell carcinomas, the immunoreactivity of this intermediate filament in renal oncocytomas has been controversial. Design.—We studied vimentin immunoreactivity in a large series of 234 renal oncocytomas using 2 staining methods as well as manual and automated imaging analyses. Results.—We found that the focal vimentin immunoreactivity can be seen in most (72.6%) renal oncocytomas with vimentin-positive tumor cells usually found in the edge of a central scar or in small clusters scattered throughout the tumor. Computer-aided imaging analysis using ChromaVision Automatic Cellular Imaging System II confirmed the difference in vimentin immunoreactivity between oncocytoma and other renal neoplasms. Conclusions.—Our study of vimentin immunohistochemistry in a series of renal oncocytomas, which to our knowledge is the largest ever published, showed focal vimentin positivity detected in most oncocytomas. Because the vimentin staining patterns in renal oncocytomas are different from those seen in clear cell or papillary renal cell carcinomas, we consider vimentin staining to be helpful in the differential diagnosis of oncocytoma from other renal tumor mimics. Furthermore, strong vimentin positivity in a renal cell neoplasm does not exclude the diagnosis of renal oncocytoma, particularly in a limited biopsy specimen.

Epithelioid Angiomyolipoma: A Morphologically Distinct Variant That Mimics a Variety of Intra-abdominal Neoplasms

2011 ◽  
Vol 135 (5) ◽  
pp. 665-670
Author(s):  
Ozgur Mete ◽  
Theodorus H. van der Kwast
Keyword(s):  
Correct Diagnosis ◽  
Smooth Muscle Tumor ◽  
Epithelioid Cell ◽  
Cell Phenotype ◽  
Renal Oncocytoma ◽  
Nerve Sheath Tumor ◽  
Epithelioid Angiomyolipoma ◽  
Perivascular Epithelioid Cell ◽  
Show Evidence ◽  
Clear Cytoplasm

Abstract This review examines the histopathologic, immunohistochemical, ultrastructural, and molecular biologic features of epithelioid angiomyolipoma (EAML), with an emphasis on the differential diagnosis of intra-abdominal EAML. Epithelioid angiomyolipoma is an uncommon mesenchymal tumor with malignant potential, frequently associated with tuberous sclerosis complex. Histologically, EAML is characterized by sheets or nests of large polygonal epithelioid cells with abundant eosinophilic or occasionally clear cytoplasm, often with prominent nucleoli, and EAML may include multinucleated and markedly pleomorphic forms. As these tumors share a distinctive perivascular epithelioid cell phenotype, they belong to the PEComa tumor family. Nearly all EAMLs show immunoreactivity for both melanocytic and myoid markers. Ultrastructurally, EAMLs show evidence of melanogenesis by the presence of premelanosomes. Epithelioid angiomyolipoma can pose significant diagnostic challenges as it mimics morphologically a variety of neoplasms including renal cell carcinoma, renal oncocytoma, adrenal cortical neoplasm, epithelioid smooth muscle tumor, epithelioid peripheral nerve sheath tumor, epithelioid gastrointestinal stromal tumor, epithelioid melanoma, hepatoblastoma, and hepatocellular carcinoma. The variation in immunophenotype in these tumors requires a prudent use of immunohistochemistry, which may occasionally need complementation by electron microscopy to establish the correct diagnosis.

scholarly journals Succinate Dehydrogenase–Deficient Renal Cell Carcinoma

2018 ◽  
Vol 143 (5) ◽  
pp. 643-647 ◽  
Author(s):  
Tsung-Heng Tsai ◽  
Wen-Ying Lee
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Succinate Dehydrogenase ◽  
Renal Cell ◽  
World Health ◽  
Low Grade ◽  
Long Term Follow Up ◽  
Health Organization

Succinate dehydrogenase (SDH)–deficient renal cell carcinoma is a recently recognized distinct subtype of renal cell carcinoma in the 2016 World Health Organization classification. It is associated with SDH gene germline mutations, which also cause paraganglioma/pheochromocytoma, gastrointestinal stromal tumor, and pituitary adenoma. The tumor most commonly presents in young adulthood. The tumors are arranged in solid nests or in tubules and frequently show cystic change. The tumors are composed of cuboidal to oval cells with round nuclei, dispersed chromatin, and inconspicuous nucleoli. The cytoplasm is eosinophilic or flocculent but not truly oncocytic. The most distinctive histologic feature is the presence of cytoplasmic vacuoles or inclusions. Loss of SDH subunit B immunostaining is needed for a definite diagnosis. The prognosis is good for low-grade tumors but worse for tumors with high-grade nuclei, sarcomatoid change, or coagulative necrosis. Long-term follow-up is indicated.

scholarly journals World Health Organization Classification of Odontogenic Tumors and Imaging Approach of Jaw Lesions

2020 ◽  
Vol 24 (05) ◽  
pp. 535-548
Author(s):  
Vasiliki Siozopoulou ◽  
Filip M. Vanhoenacker
Keyword(s):  
World Health Organization ◽  
Correct Diagnosis ◽  
Subsequent Treatment ◽  
World Health ◽  
Odontogenic Tumors ◽  
Main Role ◽  
World Health Organization Classification ◽  
Soft Tissue Changes ◽  
Health Organization

AbstractTumors of the jaws represent a heterogeneous group of lesions that are classified histologically in the World Health Organization Classification of Odontogenic Tumors (2017). This article provides an update of the current nomenclature. The main role of imaging is to describe the precise location and extent of these lesions. Although characterization of imaging is often difficult due to overlapping characteristics, imaging is helpful to define which lesions should be referred for histologic examination and subsequent treatment planning. Location and density are the cardinal criteria for potential characterization on imaging. Radiologically, lesions may be radiolucent, radiopaque, or of mixed density. Additional criteria include lesion demarcation, morphology, cortical breakthrough, periosteal reaction, and adjacent soft tissue changes. Final lesion characterization is only definitive after interdisciplinary discussion and radiopathologic correlation. Correct diagnosis is obtained by a combination of the patient's age, lesion location, and clinical and radiologic presentation. It is important that all physicians use a uniform nomenclature.

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