|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