scholarly journals Adult Patient with Synchronous Gastrointestinal Stromal Tumor and Xp11 Translocation-Associated Renal Cell Carcinoma: A Unique Case Presentation with Discussion and Review of Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Vanda Farahmand Torous ◽  
Albert Su ◽  
David Y. Lu ◽  
Sarah M. Dry

Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal tumor of the gastrointestinal tract. This entity comprises a wide spectrum of tumors that vary from benign to overtly malignant, with the majority of these tumors harboring oncogenic mutations of the KIT receptor tyrosine kinase that can aid in diagnosis as well as in targeted therapy. Although the majority of GISTs are sporadic, there are forms that are associated with a variety of syndromes including Carney-Stratakis syndrome and neurofibromatosis type 1, as well as a subset of familial GIST syndromes that are caused by germline mutations in KIT or PDGFRA. Here, we describe an unusual case of a patient who was found to have a large abdominal GIST with an incidentally found Xp11 translocation-associated renal carcinoma. The karyotype of the renal carcinoma revealed an unbalanced rearrangement involving an (X;22) translocation at Xp11.2 and 22p11.2, which has not been reported in the literature. Although GISTs have shown an association with other primary malignant neoplasms, including simultaneous presence with unilateral clear cell renal cell carcinoma and bilateral papillary renal cell carcinomas, we describe the first reported case of synchronous GIST and Xp11 translocation-associated renal cell carcinoma.

2017 ◽  
Vol 26 (2) ◽  
pp. 194-196 ◽  
Author(s):  
Hee Jung Kwon ◽  
Phil Hyun Song ◽  
Mi Jin Gu

Langerhans cell histiocytosis is a rare disease that is characterized by a localized or systemic proliferation of Langerhans dendritic cells and a wide spectrum of clinical presentations. We experienced an unusual case of occult Langerhans cell histiocytosis associated with clear cell renal cell carcinoma. A 62-year-old man underwent a partial nephrectomy for left renal mass. Histologic examination showed nests of clear cells with surrounding thin-walled vessel that were suggestive of clear cell renal cell carcinoma. A well-defined nodule composed of atypical mononuclear cells and plentiful eosinophils presented within clear cell renal cell carcinoma. The mononuclear cells were Langerhans cell histiocytes with S-100 and CD1a immunoreactivity. On follow-up comprehensive physical, laboratory, and radiologic examination, there were no other lesions of Langerhans cell histiocytosis.


2019 ◽  
Vol 15 (3) ◽  
pp. 126-131
Author(s):  
Yu. I. Osmanov ◽  
E. A. Kogan ◽  
L. O. Severgina ◽  
L. M. Rapoport ◽  
N. S. Aleksandrov ◽  
...  

In the structure of oncological morbidity, renal cell carcinoma takes the 10th place among malignant neoplasms. The increase in incidence is observed from the age of 35–40 years and reaches a maximum at the age of 65–70 years. In terms of frequency of occurrence, clear cell renal cell carcinoma is ranked first among all kidney tumors. Meanwhile, due to the high heterogeneity of renal cell carcinomas with clear cytoplasm group, significant differential diagnostic difficulties arise in the morphological verification of these tumors. The article presents all nosological forms of kidney tumors with clear cytoplasm and provides a database of already known immunohistochemical markers for each nosological unit.


2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Carter MCauley ◽  
Vasthy Anang ◽  
Breanna Cole ◽  
Glenn Simmons

According to the National Institutes of Health, clear cell renal cell carcinoma (ccRCC) is the most common type of Renal Cell Carcinoma (RCC), making up approximately 75% of total renal carcinoma cases. Clear cell Renal Cell Carcinoma is characterized by a significant accumulation of lipids in the cytoplasm, which allows light from microscopes to pass through giving them a “clear” phenotype. Many of these lipids are in the form of fatty acids, both free and incorporated into lipid droplets. RCC is typically associated with a poor prognosis due to the lack of specific symptoms. Some symptoms include blood in urine, fever, lump on the side, weight loss, fatigue, to name a few; all of which can be associated with non-specific, non-cancerous, health conditions that contribute to difficult diagnosis. Treatment of RCC has typically been centered around radical nephrectomy as the standard of care, but due to the potentially small size of lesions and the possibility of causing surgically induced chronic kidney disease, treatments have shifted to more cautious, less invasive approaches. These approaches include active surveillance, nephron-sparing surgery, and other minimally invasive techniques like cryotherapy and renal ablation. Although these techniques have had the desired effect of reducing the number of surgeries, there is still considerable potential for renal impairment and the chance that tumors can grow out of control without surgery. With the difficulty that surrounds the treatment of ccRCC and its considerably high mortality rate amongst urological cancers, it is important to look for novel approaches to improve patient outcomes. This review looks at available literature and our data that suggests the lipogenic enzyme stearoyl-CoA desaturase may be more beneficial to patient survival than once thought. As our understanding of the importance of lipids in cell metabolism and longevity matures, it is important to present new perspectives that present a new understanding of ccRCC and the role of lipids in survival mechanisms engaged by transformed cells during cancer progression. In this review, we provide evidence that pharmacological inhibition of lipid desaturation in renal cancer patients is not without risk, and that the presence of unsaturated fatty acids may be a beneficial factor in patient outcomes. Although more direct experimental evidence is needed to make definitive conclusions, it is clear that the work reviewed herein should challenge our current understanding of cancer biology and may inform novel approaches to the diagnosis and treatment of ccRCC.


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