Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature
Abstract 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 featur...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-08-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13000-018-0731-y |
| _version_ | 1818391081846308864 |
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| author | Hongbiao Jing Hong Wei Hongtu Yuan Yahong Li Ning Li Dianbin Mu |
| author_facet | Hongbiao Jing Hong Wei Hongtu Yuan Yahong Li Ning Li Dianbin Mu |
| author_sort | Hongbiao Jing |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-14T05:07:51Z |
| format | Article |
| id | doaj.art-d92044af3010405d90ae27cabf293a3f |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-12-14T05:07:51Z |
| publishDate | 2018-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-d92044af3010405d90ae27cabf293a3f2022-12-21T23:16:04ZengBMCDiagnostic Pathology1746-15962018-08-011311610.1186/s13000-018-0731-yMelanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literatureHongbiao Jing0Hong Wei1Hongtu Yuan2Yahong Li3Ning Li4Dianbin Mu5Department of Pathology, Shandong Cancer Hospital Affiliated to Shandong UniversityThe Sixth People Hospital of Jinan CityDepartment of Pathology, Shandong Cancer Hospital Affiliated to Shandong UniversityGuangzhou LBP Medical Technology Co., LtdThe Sixth People Hospital of Jinan CityDepartment of Pathology, Shandong Cancer Hospital Affiliated to Shandong UniversityAbstract 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.http://link.springer.com/article/10.1186/s13000-018-0731-yKidneyMelaninNeoplasmTFE3TranslocationXp11 |
| spellingShingle | Hongbiao Jing Hong Wei Hongtu Yuan Yahong Li Ning Li Dianbin Mu Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature Diagnostic Pathology Kidney Melanin Neoplasm TFE3 Translocation Xp11 |
| title | Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature |
| title_full | Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature |
| title_fullStr | Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature |
| title_full_unstemmed | Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature |
| title_short | Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature |
| title_sort | melanotic xp11 translocation renal cancer a report of a distinctive case and a review of the literature |
| topic | Kidney Melanin Neoplasm TFE3 Translocation Xp11 |
| url | http://link.springer.com/article/10.1186/s13000-018-0731-y |
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