Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Diagnostic Pathology
Published in: Diagnostic Pathology 1/2018

Open Access 01-12-2018 | Case Report

Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature

Authors: Hongbiao Jing, Hong Wei, Hongtu Yuan, Yahong Li, Ning Li, Dianbin Mu

Published in: Diagnostic Pathology | Issue 1/2018

Login to get access

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.
Literature
1.
Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am J Surg Pathol. 2009;33:609–19.CrossRefPubMed
2.
Chang IW, Huang HY, Sung MT. Melanotic Xp11 translocation renal cancer: a case with PSF-TFE3 gene fusion and up-regulation of melanogenetic transcripts. Am J Surg Pathol. 2009;33:1894–901.CrossRefPubMed
3.
Varinot J, Camparo P, Beurtheret S, Barreda E, Compérat E. An adult case of melanotic Xp11 translocation renal cancers: distinct entity or sub-entity? Int J Surg Pathol. 2011;19:285–9.CrossRefPubMed
4.
LeGallo RD, Stelow EB, Sukov WR, Duska LR, Alisanski SB, Folpe AL. Melanotic xp11.2 neoplasm of the ovary: report of a unique case. Am J Surg Pathol. 2012;36:1410–4.CrossRefPubMed
5.
Rao Q, Williamson SR, Zhang S, Eble JN, Grignon DJ, Wang M, et al. TFE3 break-apart FISH has a higher sensitivity for Xp11.2 translocation-associated renal cell carcinoma compared with TFE3 or cathepsin K immunohistochemical staining alone: expanding the morphologic spectrum. Am J Surg Pathol. 2013;37:804–15.CrossRefPubMed
6.
Ritterhouse LL, Cykowski MD, Hassell LA, Slobodov G, Bane BL. Melanotic Xp11 translocation renal cancer: report of a case with a unique intratumoral sarcoid-like reaction. Diagn Pathol. 2014;9:81.CrossRefPubMedPubMedCentral
7.
Rao Q, Shen Q, Xia QY, Wang ZY, Liu B, Shi SS, et al. PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity. Am J Surg Pathol. 2015;39:1181–96.CrossRefPubMed
8.
Argani P, Zhong M, Reuter VE, Fallon JT, Epstein JI, Netto GJ, et al. TFE3-fusion variant analysis defines specific Clinicopathologic associations among Xp11Translocation cancers. Am J Surg Pathol. 2016;40:723–37.CrossRefPubMedPubMedCentral
9.
Khourdaji IS, Jafri SM, Faraj K, Raofi V, Bernacki K. Melanotic Xp11 translocation renal cancer managed with radical nephrectomy and IVC tumor thrombectomy. Urol Case Rep. 2016;10:42–4.CrossRefPubMedPubMedCentral
10.
Cardili L, Wrublevsky Pereira G, Viana CR. A rare case of TFE-related pigmented renal tumor with overlapping features between melanotic Xp11 translocation renal cancer and Xp11 renal cell carcinoma with melanotic features. Pathol Int. 2017;67:208–13.CrossRefPubMed
11.
Antic T, Taxy JB, Alikhan M, Segal J. Melanotic translocation renal cell carcinoma with a novel ARID1B-TFE3 gene fusion. Am J Surg Pathol. 2017;41:1576–80.CrossRefPubMed
12.
Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol. 2003;27:750–61.CrossRefPubMed
13.
Green WM, Yonescu R, Morsberger L, Morris K, Netto GJ, Epstein JI, et al. Utilization of a TFE3 break-apart FISH assay in a renal tumor consultation service. Am J Surg Pathol. 2013;37:1150–63.CrossRefPubMed
14.
15.
Argani P. MiT family translocation renal cell carcinoma. Semin Diagn Pathol. 2015 Mar;32(2):103–13.CrossRefPubMed
16.
Bayazit Y, Aridogan IA, Zeren S, Gönlüşen G, Tansug Z. Primary malignant melanoma of the kidney. Scand J Urol Nephrol. 2002;36(1):77–9.CrossRefPubMed
17.
Oliva E, Quinn TR, Amin MB, Eble JN, Epstein JI, Srigley JR, et al. Primary malignant melanoma of the urethra. A clinicopathologic analysis of 15 cases. Am J Surg Pathol. 2000;24(6):785–96.CrossRefPubMed
18.
Martignoni G, Cheville J, Fletcher CDM, Pea M, Reuter V, Ro JY, et al. Mesenchymal tumours occurring mainly in adults. In: Moch H, Humphrey P, Ulbright TM, Reuter V, editors. WHO classification of Tumours of the urinary system and male genetic organs. Lyon: IARC; 2016. p. 59–69.
Metadata
Title
Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature
Authors
Hongbiao Jing
Hong Wei
Hongtu Yuan
Yahong Li
Ning Li
Dianbin Mu
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2018
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-018-0731-y

Other articles of this Issue 1/2018

Diagnostic Pathology 1/2018 Go to the issue

Research

Levels of uPA and PAI-1 in breast cancer and its correlation to Ki67-index and results of a 21-multigene-array

Case Report

Splenic hamartoma with bizarre stromal cells: a case report and literature review

Research

Physical basis of the ‘magnification rule’ for standardized Immunohistochemical scoring of HER2 in breast and gastric cancer

Research

Analytic validity of DecisionDx-Melanoma, a gene expression profile test for determining metastatic risk in melanoma patients

Review

PD-L1 diagnostic tests: a systematic literature review of scoring algorithms and test-validation metrics

Research

Release of circulating tumor cells and cell-free nucleic acids is an infrequent event in synovial sarcoma: liquid biopsy analysis of 15 patients diagnosed with synovial sarcoma