Table 1

Features of seven melanotic Xp11 translocation renal cancers reported in the literature
Year/Author Patient information Clinical presentation Radiologic findings Pertinent IHC results Genetic features Therapy/Outcome
2009, Argani et al. 11-year-old black/Haitian male Presumptive diagnosis of WT in native country 2 years prior L renal tumor (21.5 cm), BL lung nodules, enlarged mesenteric nodes Pos: HMB45, TFE3, Melan-A, Neg: Desm, Actin, RCC, EMA, S100, Pan-CK, MiTF, PAX-8 TFE3, BA FISH signal (unbalanced) Nephrectomy; catheter placed for CT; outcome NS
2009, Argani et al. 12-year-old female, race/ethnicity NS Sudden onset of L flank pain, hematuria Large L renal tumor, mid/upper poles, enlarged RP, mesenteric nodes Pos: HMB45, TFE3, tyrosinase, Melan-A, Neg: Desm, Actin, RCC, EMA, S100, CK, MiTF, CD99, Vim, PAX-8 TFE3, BA FISH signal (balanced) Biopsies; CT; Dead of disease at 9 months
2009, Chang et al. 18-year-old Taiwanese female Dizziness and epigastric pain 10 cm R renal tumor Pos: HMB45, TFE3, Neg: Desm, SMA, Vim, EMA, S100, Pan-CK, CD117, MiTF PSF-TFE3 gene fusion; TYRP1, TYR, MiTF upregulation Nephro-ureterectomy, LND; pT2; disease free at 3 months
2011, Varinot et al. 30-year-old North African female Weakness, dyspnea, L arm paresthesia 12.5 cm renal tumor with IVC and PA thrombus Pos: HMB45, TFE3, Melan-A, Neg: Desm, SMA, Pan-CK, S100, PAX-8 TFE3, BA FISH signal Nephrectomy; therapy NS; widely metastatic disease
2012, LeGallo et al. 15-year-old African-American female 1-day h/o severe abdominal pain 14 cm R ovary tumor, with IVC compression and bowel displacement Pos: HMB45, tyrosinase, Neg: Desm, SMA, S100, EMA, Pan-CK, CD117 TFE3, BA FISH signal; EWSR1 trisomy Ovarian mass excision; no CT/RT; disease free at 9 months
2013, Rao et al. 14-year-old female, race/ethnicity NS NS NS Pos: TFE3, CathK, Neg: NS TFE3, BA FISH signal Procedure NS; pT1N0Mx; further outcome NS
Present Case 34-year-old African-American female 6-month h/o dull L flank pain 4.6 cm midpole of L kidney tumor Pos: HMB45, TFE3, CD117, PR, CathK, Neg: Desm, SMA, ER, Pan-CK, CK7, EMA, Vim, PAX-8 TFE3, BA FISH signal Partial nephrectomy; pT1b; no CT/RT; disease free at 22 months

Abbreviations: BA break apart, BL bilateral, CathK cahepsin K, CK cytokeratin, CT chemotherapy, Desm Desmin, EMA epithelial membrane antigen, ER estrogen receptor, EWSR1 Ewing sarcoma breakpoint region 1, FISH fluorescence in-situ hybridization, h/o history of, IVC inferior vena cava, L left, LND lymph node dissection, MiTF microphthalmia-associated transcription factor, NS not specified, PA pulmonary artery, PR progesterone receptor, R right, RP retroperitoneal, RT radiotherapy, SMA smooth muscle actin, TYR tyrosinase, TYRP1 tyrosinase-related protein 1, Vim vimentin, WT Wilms tumor.

Ritterhouse et al.

Ritterhouse et al. Diagnostic Pathology 2014 9:81   doi:10.1186/1746-1596-9-81

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