Cytogenetic and Molecular Studies of Clear-Cell Sarcoma of Tendons and Aponeuroses

Author(s):  
G. Stenman ◽  
P. Sahlin ◽  
L. Angervall ◽  
P. Meltzer ◽  
L.-G. Kindblom
2019 ◽  
Vol 143 (8) ◽  
pp. 1022-1026 ◽  
Author(s):  
Sze Jet Aw ◽  
Kenneth Tou En Chang

Clear cell sarcoma of the kidney is the second most common primary renal malignancy in childhood. It is histologically diverse, making accurate diagnosis challenging in some cases. Recent molecular studies have uncovered BCOR exon 15 internal tandem duplications in most cases, and YWHAE-NUTM2 fusion in a few cases, with the remaining cases having other genetic mutations, including BCOR-CCNB3 fusion and EGFR mutations. Although clear cell sarcoma of the kidney has no specific immunophenotype, several markers including cyclin D1, nerve growth factor receptor, and BCOR (BCL6 corepressor) have emerged as potential diagnostic aides. This review provides a concise account of recent advances in our understanding of clear cell sarcoma of the kidney to serve as a practical update for the practicing pathologist.


2014 ◽  
Vol 138 (10) ◽  
pp. 1328-1336 ◽  
Author(s):  
Maria A. Pletneva ◽  
Aleodor Andea ◽  
Nallasivam Palanisamy ◽  
Bryan L. Betz ◽  
Shannon Carskadon ◽  
...  

Clear cell melanoma is a rare clear cell malignancy. Accurate diagnosis of clear cell melanoma requires integration of immunohistochemical and morphologic findings, with molecular studies to rule out clear cell sarcoma. The differential diagnosis includes melanoma, carcinoma, perivascular epithelioid cell tumor, and epidermotropic clear cell sarcoma. We use a case of a lesion on the helix of an 86-year-old man as an example. Histologic examination revealed an ulcerated clear cell malignant tumor. Tumor cell cytoplasm contained periodic acid-Schiff–positive, diastase-sensitive glycogen. Tumor cells showed positive labeling for S100, HMB-45, and Melan-A, and negative labeling for cytokeratins, p63, and smooth muscle actin. Molecular studies demonstrated BRAF V600E mutation, copy gains at the 6p25 (RREB1) and 11q13 (CCND1) loci, and absence of EWSR1-ATF1 fusion. These findings supported a diagnosis of clear cell melanoma. The rare pure clear cell morphology occurs due to accumulation of intracytoplasmic glycogen. We review the differential diagnosis of clear cell melanoma and describe the utility of immunohistochemical and molecular studies in confirming this diagnosis.


Pathology ◽  
1993 ◽  
Vol 25 (2) ◽  
pp. 106-109 ◽  
Author(s):  
Lai-Meng Lool ◽  
Phaik-Leng Cheah

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Takuhisa Okada ◽  
Yasumitsu Hirano ◽  
Shintaro Ishikawa ◽  
Hiroka Kondo ◽  
Toshimasa Ishii ◽  
...  

Abstract Background Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLTGT) is extremely rare. It is a mesenchymal neoplasm that usually forms in the small intestine of adolescents and young adults, is prone to local recurrence and metastasis, and has a high mortality rate. We report a patient with CCSLTGT with lymph node- and liver metastases, who continues to survive 6 years after initial surgical resection. Case presentation A 38-year-old woman presented with lightheadedness. Laboratory analysis revealed anemia (hemoglobin, 6.7 g/dL), and enhanced computed tomography (CT) demonstrated a mass in the small intestine, about 6 cm in diameter, with swelling of 2 regional lymph nodes. Double-balloon small intestine endoscopic examination revealed a tumor accompanied by an ulcer; the biopsy findings suggested a primary cancer of the small intestine. She was admitted, and we then performed a laparotomy for partial resection of the small intestine with lymph node dissection. Pathologic examination revealed CCSLTGT with regional lymph node metastases. About 3 years later, follow-up CT revealed a single liver metastasis. Consequently, she underwent a laparoscopic partial liver resection. Histopathologic examination confirmed that the liver metastasis was consistent with CCSLTGT. It has now been 3 years without a recurrence. Conclusion Repeated radical surgical resection with close follow-up may be the only way to achieve long-term survival in patients with CCLSTGT.


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