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Table 1 Clinicopathologic features of the cases described in the literature (a)

From: Desmoplastic small round cell tumor of the kidney: a case report

  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.
Egloff, et al., [6] and Wang, et al., [7]
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
  1. NED No evidence of disease, AWD Alive with disease, CT Chemotherapy, RT Radiotherapy
  2. aTable does not include a case reported by Janssens E, et al. (2009) [13] as the article could not be reached by any means
  3. bCase 3 was first reported by Egloff, et al. (2005) [6] and also included among 4 patients in the case series published a year later by Wang, et al. (2007) [7]