Targeted Next-generation Sequencing Revealed Distinct Clinicopathologic and Molecular Features of VCL-ALK RCC: A Unique Case from An Older Patient without Clinical Evidence of Sickle Cell Trait

Publication date: Available online 17 September 2019Source: Pathology - Research and PracticeAuthor(s): Xiao-tong Wang, Ru Fang, Sheng-bing Ye, Ru-song Zhang, Rui Li, Xuan Wang, Rong-hao Ji, Zhen-feng Lu, Heng-hui Ma, Xiao-jun Zhou, Qiu-yuan Xia, Qiu RaoAbstractAnaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC) is a novel entity of rare tumors with only 10 cases reported in the literature. Three RCC cases bearing VCL-ALK gene fusion were all young African American patients and associated with sickle cell trait notably. In contrast to the 3 reported cases, this neoplasm occurred in a middle-age woman (57 years old) without any evidence of sickle cell trait and demonstrated an infiltrating growth pattern with tubular, tubulopapillary, and tubulocystic structures, overlapping with collecting duct carcinoma and renal medullary carcinoma. Abundant intraluminal mucin was also noted significantly in the histologic sections. Immunostaining showed strong membranous labeling for ALK protein. We applied a large panel-targeted next-generation sequencing to explore the molecular alterations in the current case, revealing a driver oncogene VCL-ALK gene fusion co-occurring with pathogenic mutations in EP300 and TRRAP genes. Thereafter, fluorescence in situ hybridization assay was used to detect the ALK gene rearrangement. Reverse transcription polymerase chain reaction confirmed the presence of a VCL-ALK gene fusion, a fusion of VCL exon 16 to ALK exon 20. Our report dra...
Source: Pathology Research and Practice - Category: Pathology Source Type: research

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Publication date: Available online 12 October 2019Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Laura Tatiana Pelegrina, Myriam LaconiAbstractOvarian carcinoma is one of the most common cause of death by gynecologic cancer. Several epidemiological and in vitro studies have shown controversial data about progesterone effects in ovarian cancer. Progesterone can be converted in its active metabolite, allopregnanolone, its effects in ovarian cancer are still unknown. Previously, we demonstrated that allopregnanolone modifies ovarian morphophysiology, being able to alter critical process of tumor d...
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research
Source: OncoTargets and Therapy - Category: Cancer & Oncology Tags: OncoTargets and Therapy Source Type: research
Abstract Anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC) is a novel entity of rare tumors with only 10 cases reported in the literature. Three RCC cases bearing VCL-ALK gene fusion were all young African American patients and associated with sickle cell trait notably. In contrast to the 3 reported cases, this neoplasm occurred in a middle-age woman (57 years old) without any evidence of sickle cell trait and demonstrated an infiltrating growth pattern with tubular, tubulopapillary, and tubulocystic structures, overlapping with collecting duct carcinoma and renal medullary carcinoma. Abundant...
Source: Pathology, Research and Practice - Category: Pathology Authors: Tags: Pathol Res Pract Source Type: research
We present an updated report of renal medullary carcinoma (RMC), a rare and aggressive condition.Recent FindingsThere is a majority of male patients, of African descent, in the second or third decade of life. In differential diagnosis, other tumors, such as malignant rhabdoid tumor (MRT), vinculin-anaplastic lymphoma kinase (VCL-ALK) translocation renal cell carcinoma, and collecting duct carcinoma, may present difficulties. Abnormalities of tumor suppressor gene SMARCB1 have been found in RMC. Reported symptoms were hematuria, pain, weight loss, respiratory distress, palpable mass, cough, and fever. Most patients present ...
Source: Current Urology Reports - Category: Urology & Nephrology Source Type: research
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Source: Blood - Category: Hematology Authors: Tags: 112. Thalassemia and Globin Gene Regulation: Poster II Source Type: research
Renal medullary carcinoma (RMC) is a rare renal neoplasm accounting for less than 1% of all renal cell carcinomas. RMC, which frequently occurs in young African Americans with sickle cell trait, is an aggressive and lethal cancer with a median overall survival of about 13 months. Recent studies identified the biallelic loss of SMARCB1, a subunit of the SWI/SNF chromatin remodeling complex, as a characteristic feature of RMC tumors. Other reports suggest that the presence of vinculin-anaplastic lymphoma kinase (VCL-ALK) fusion without SMARCB1 loss may represent an RMC variant.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Kidney Cancer: Basic Research & Pathophysiology I Source Type: research
We report a case of ALK‐positive renal cell carcinoma coincident with Hodgkin lymphoma. The patient was a 19 year‐old‐girl without sickle cell trait. The right renal tumor was discovered concomitantly with Hodgkin lymphoma (HL). After chemotherapy for HL, right nephrectomy was performed. Microscopically, the tumor showed a solid and focally pseudo‐papillary growth pattern studded with tubular structures. Most tumor cells were small bland eosinophilic cells, but rhabdoid cells, vacuolated cells, pleomorphic multinucleated giant cells were also admixed. The variety of growth patterns and cell features led us to specu...
Source: Pathology International - Category: Pathology Authors: Tags: Case Report Source Type: research
Collecting duct carcinoma (CDC) and related tumors [ie, renal medullary carcinoma (RMC)] are rare types of highly aggressive renal cell carcinomas (RCC) with poor prognosis. Because of the rarity and diagnostic uncertainty of them, their molecular pathology and significance have not yet been fully elucidated. CDC, RMC, fumarate hydratase–deficient RCC (including hereditary leiomyomatosis and RCC-associated RCC HLRCC-RCC), and recently reported anaplastic lymphoma kinase (ALK)-rearrangement RCC have significant morphologic overlaps, but they are separately distinct entities having different molecular pathway and clini...
Source: Advances in Anatomic Pathology - Category: Pathology Tags: Review Articles Source Type: research
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