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 |