Table 1 Clinicopathologic features of the cases described in the literature (a)
From: Desmoplastic small round cell tumor of the kidney: a case report
| Â | Age / Sex | Clinical presentation | R / L side | Gross Findings | Microscopic Findings | Immunohistochemistry | Molecular pathology | Therapy | Follow-up | Publication |
|---|---|---|---|---|---|---|---|---|---|---|
Case 1 | 41 / F | Incidental | Left | Renal mass at hilar region, 6x5x5 cm, invaded into perirenal soft tissue | Nests of small round blue cells within desmoplastic stroma; occasional rosette-like formations; necrosis and numerous mitotic figures | CK (AE1/AE3) (+), Desmin (+), Vimentin (+), NSE (+), EMA (−), CK7 and 20 (−), CD99 (−), S100 (−), Chromogranin (−), Synaptophysin (−) | RT-PCR showing EWSR1-WT1 fusion | Surgery | Alive (NED) at 18th mo. | Su, et al., [4] |
Case 2 | 7 / F | Gross hematuria following a fall | Left | Confined within renal capsule, 3.7 × 3.7 × 3.2 cm | Small round undifferentiated cells, necrosis and epithelioid component | Desmin (+), WT-1 (+), CD99 (+), SMA (+), EMA (+), Myogenin (−) | RT-PCR showing EWSR1-WT1 fusion | Surgery + CT | Alive (NED) at 12th mo. | Eaton, et al., [5] |
Case 3b | 6 / F | Renal mass (no details about clinical presentations) | Left | 3.7 cm mass confined to kidney | Nests, sheets or cords of small undifferentiated cells; numerous mitotic figures, no desmoplasia | CK (+), Desmin (+), Vimentin (+), WT1 (+), FLI-1 (+), CD56 (+); EMA (−), CD99 (−), Myogenin (−), S100 (−), Chromogranin (−), Synaptophysin (−) | Dual color FISH showing EWSR1-WT1 translocation and RT-PCR showing EWSR1-WT1 fusion | Neoadjuvant CT + Surgery | Alive (NED) 24th mo. | |
Case 4 | 6 / F | Left | 13.4 cm mass showing renal sinus invasion | CK (+), EMA (+), Desmin (+), Vimentin (+), CD99 (+), WT1 (+), FLI-1 (+), CD56 (+), Myogenin (−), S100 (−), Chromogranin (−), Synaptophysin (−) | Surgery + CT | Pulmonary metastasis at 32nd mo. CT, stem cell transplantation. NED a year later | Wang, et al., [7] | |||
Case 5 | 6 / F | Left | 9 cm mass with perirenal soft tissue and renal sinus invasion | CK (+), EMA (+), Desmin (+), Vimentin (+), CD99 (+), WT1 (+), FLI-1 (+), CD56 (+), Myogenin (−), S100 (−), Chromogranin (−), Synaptophysin (−) | Alive (NED) at 22nd mo | |||||
Case 6 | 8 / M | Left | 9.2 cm mass with renal sinus invasion | EMA (+), Desmin (+), Vimentin (+), CD99 (+), WT1 (+), FLI-1 (+), CD56 (+), CK (−), Myogenin (−), S100 (−), Chromogranin (−), Synaptophysin (−) | Intraabdomimal recurrence and liver metastasis at 20th mo. CT. AWD | |||||
Case 7 | 14 / F | Gross hematuria, fever and self-disvovered abdominal mass | Left | 17.5x12x11 cm mass invading renal sinus and perinephric fat, and focally extending to Gerota’s fascia; metastatic lymph node in hilar region | Small ovoid-spindle blue cells in solid sheets and large nests; rare rosette-like structures; numerous mitotic figures; tumor thrombi in perinephric blood vessels | EMA (+), Desmin (+), Vimentin (+), WT1 (+), CD56 (+), Chromogranin (focal +), Synaptophysin (rare +), CK (AE1/AE3) (−), CD99 (−), S100 (−) | RT-PCR showing EWSR1-WT1 fusion | Surgery + CT + local RT | Liver and lung metastases at 8th mo. | Collardeau-Frachon, et al., [8] |
Case 8 | 10 / M | Gross hematuria, abdominal pain, palpable mass | Right | 14 × 11 cm mass | Small blue round cells with desmoplasia; occasional rosette-like formations. | CK (+), Desmin (+), CD99 (−), WT1 (+), FLI-1 (+); S100 (−), Chromogranin (−), Synaptophysin (−) | RT-PCR showing EWSR1-WT1 fusion | Surgery + CT + local RT | Liver, lung, bone, lymph node metastases. AWD at 12th mo | da Silva, et al., [9] |
Case 9 | 20 / M | Renal mass and pulmonary nodules (no details about clinical presentations) | Right | 8 cm mass with areas of hemorrhage and necrosis, invading renal vein grossly | Elongated to round cells with scant cytoplasm in sheets and occasionally a vague nodular pattern, frequent mitotic activity, lacked prominent desmoplasia | CK (+), Desmin (+), Vimentin (+), CD56 (+); WT1 (cytoplasmic +), CD99 (−), MyoD1 (−), NSE (−), RCC Ag (−), EMA (−), Myogenin (−), S100 (−) | FISH showing EWSR11 rearrangement and RT-PCR showing EWSR1-WT1 fusion | Surgery | Pulmonary metastases at presentation, local recurrence after surgery. Exitus at 2nd year | Rao, et al., [10] |
Case 10 | 7 / M | Gross hematuria, microscopic hematuria and intermittent back pain 3 years priorly | Left | Polypoid mass confined to the renal collecting system, extending into proximal and mid ureter, no involvement of renal parenchyma | Spindled and polygonal tumor cells, rare rosettes, low mitotic rate | CD99 (+), Vimentin (+), Desmin (focal+), Actin (focal+), WT1 (focal+), PAX2 (+); PAX8 (−) | FISH showing EWSR1 rearrangement, karyotyping showing t(11;22) (p13;q12). | Surgery + CT + RT | Alive (NED) (duration unknown) | Eklund et al., [11] |
Case 11 | 6 / M | Facial swelling and pain, headache, decreased oral intake | Right | 5.7 × 5.5 × 4.7 cm mass with large areas of central necrosis, invading hilar soft tissues | Sheets of poorly differentiated round cells, no desmoplastic stroma | Bcl-2 (+), CD99 (+), desmin (+), vimentin (+), CD56 (+), and FLI-1 (+), WT1 (−), Synaptophysin (−), SMA (−), Myogenin (−), Myo-D1 (−), CD31 (−), CD34 (−), Napsin (−) | RT-PCR showing EWSR1-WT1 fusion | No information | Metastatic disease (multiple, bone and lungs) at presentation. No further follow-up information | Walton, et al., [12] |
Case 12 | 8 / F | Abdominal pain | Left | 11x9x7 cm mass with renal pelvis, perirenal fat tissue and adrenal gland invasion | Nests, cords, sheets of small round cells within desmoplastic stroma; frequent rosette-like structures, psedopapillary appearance and frequent rhabdoid cells. | CK (+), EMA (+), Desmin (+), Vimentin (+), CD56 (+), WT1 (+), CD99 (−), Bcl-2 (−), MUC4 (−), Myogenin (−), Myo-D1 (−), SMA (−), S100 (−), Chromogranin (−), Synaptophysin (−) | FISH showing EWSR1 gene re-arrangement | Neoadjuvant CT + surgery + adjuvant CT | Multiple metastases (liver, lungs and lymph nodes). Exitus at 30th mo. | Current case |