Diagnostic Histopathology
Volume 15, Issue 11 , Pages 524-530 , November 2009

Paediatric soft tissue tumours: from histology to molecular diagnosis

References 

  1. Bridge JA. Advantages and limitations of cytogenetic, molecular cytogenetic, and molecular diagnostic testing in mesenchymal neoplasms. J Orthop Sci. 2008;13:273–282
  2. Bennicelli JL, Barr FG. Chromosomal translocations and sarcomas. Curr Opin Oncol. 2002;14:412–419
  3. Bahrami A, Truong LD, Ro JY, et al. Undifferentiated tumor: true identity by immunohistochemistry. Arch Pathol Lab Med. 2008;132:326–348
  4. Ordonez JL, Martins AS, Osuna D, et al. Targeting sarcomas: therapeutic targets and their rational. Semin Diagn Pathol. 2008;25:304–316
  5. Ladanyi M. Targeted therapy of cancer: new roles for pathologists. Mod Pathol. 2008;21(Suppl 2):S1
  6. Fisher C. The comparative roles of electron microscopy and immunohistochemistry in the diagnosis of soft tissue tumours. Histopathology. 2006;48:32–41
  7. Barr FG, Qualman SJ, Macris MH, et al. Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions. Cancer Res. 2002;62:4704–4710
  8. Davicioni E, Anderson MJ, Finckenstein FG, et al. Molecular classification of rhabdomyosarcoma – genotypic and phenotypic determinants of diagnosis: a report from the Children's Oncology Group. Am J Pathol. 2009;174:550–564
  9. Sorensen PH, Lynch JC, Qualman SJ, et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. J Clin Oncol. 2002;20:2672–2679
  10. Croes R, biec-Rychter M, Cokelaere K, et al. Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma. Virchows Archiv. 2005;446:64–67
  11. Wachtel M, Runge T, Leuschner I, et al. Subtype and prognostic classification of rhabdomyosarcoma by immunohistochemistry. J Clin Oncol. 2006;24:816–822
  12. De Alava E, Gerald WL. Molecular biology of the Ewing's sarcoma/primitive neuroectodermal tumor family. J Clin Oncol. 2000;18:204–213
  13. Shing DC, McMullan DJ, Roberts P, et al. FUS/ERG gene fusions in Ewing's tumors. Cancer Res. 2003;63:4568–4576
  14. De Alava E, Kawai A, Healey JH, et al. EWS-FLI1 fusion transcript structure is an independent determinant of prognosis in Ewing's sarcoma. J Clin Oncol. 1998;16:1248–1255
  15. Folpe AL, Hill CE, Parham DM, et al. Immunohistochemical detection of FLI-1 protein expression: a study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing's sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol. 2000;24:1657–1662
  16. Ellison DA, Parham DM, Bridge J, et al. Immunohistochemistry of primary malignant neuroepithelial tumors of the kidney: a potential source of confusion? A study of 30 cases from the National Wilms Tumor Study Pathology Center. Hum Pathol. 2007;38:205–211
  17. Bridge RS, Rajaram V, Dehner LP, et al. Molecular diagnosis of Ewing sarcoma/primitive neuroectodermal tumor in routinely processed tissue: a comparison of two FISH strategies and RT-PCR in malignant round cell tumors. Mod Pathol. 2006;19:1–8
  18. Biswas G, Laskar S, Banavali SD, et al. Desmoplastic small round cell tumor: extra abdominal and abdominal presentations and the results of treatment. Indian J Cancer. 2005;42:78–84
  19. Chang F. Desmoplastic small round cell tumors: cytologic, histologic, and immunohistochemical features. Arch Pathol Lab Med. 2006;130:728–732
  20. Gardner LJ, Ayala AG, Monforte HL, et al. Ewing sarcoma/peripheral primitive neuroectodermal tumor: adult abdominal tumors with an Ewing sarcoma gene rearrangement demonstrated by fluorescence in situ hybridization in paraffin sections. Appl Immunohistochem Mol Morphol. 2004;12:160–165
  21. Zhang J, Dalton J, Fuller C. Epithelial marker-negative desmoplastic small round cell tumor with atypical morphology: definitive classification by fluorescence in situ hybridization. Arch Pathol Lab Med. 2007;131:646–649
  22. Murphy AJ, Bishop K, Pereira C, et al. A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. Hum Pathol. 2008;39:1763–1770
  23. Hill DA, Pfeifer JD, Marley EF, et al. WT1 staining reliably differentiates desmoplastic small round cell tumor from Ewing sarcoma/primitive neuroectodermal tumor. An immunohistochemical and molecular diagnostic study. Am J Clin Pathol. 2000;114:345–353
  24. Tacconi L, Thom M, Thomas DGT. Primary monophasic synovial sarcoma of the brachial plexus - report of a case and review of the literature. Clin Neurol Neurosurg. 1996;98:249–252
  25. Machen SK, Fisher C, Gautam RS, et al. Utility of cytokeratin subsets for distinguishing poorly differentiated synovial sarcoma from peripheral primitive neuroectodermal tumour. Histopathology. 1998;33:501–507
  26. Olsen SH, Thomas DG, Lucas DR, et al. Cluster analysis of immunohistochemical profiles in synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma. Mod Pathol. 2006;19:659–668
  27. Sebire NJ, Gibson S, Rampling D, et al. Immunohistochemical findings in embryonal small round cell tumors with molecular diagnostic confirmation. Appl Immunohistochem Mol Morphol. 2005;13:1–5
  28. Ladanyi M, Antonescu CR, Leung DH, et al. Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res. 2002;62:135–140
  29. de AE, De Alava E. Transcripts, transcripts, everywhere [see comment]. Adv Anatomic Pathol. 2001;8:264–272
  30. Hisaoka M, Ishida T, Kuo TT, et al. Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. Am J Surg Pathol. 2008;32:452–460
  31. Hornick JL, Fletcher CD. PEComa: what do we know so far?. Histopathology. 2006;48:75–82
  32. Coindre JM, Hostein I, Terrier P, et al. Diagnosis of clear cell sarcoma by real-time reverse transcriptase-polymerase chain reaction analysis of paraffin embedded tissues: clinicopathologic and molecular analysis of 44 patients from the French sarcoma group. Cancer. 2006;107:1055–1064
  33. Huang W, Zhang X, Li D, et al. Osteoclast-rich tumor of the gastrointestinal tract with features resembling those of clear cell sarcoma of soft parts. Virchows Archiv. 2006;448:200–203
  34. Friedrichs N, Testi MA, Moiraghi L, et al. Clear cell sarcoma-like tumor with osteoclast-like giant cells in the small bowel: further evidence for a new tumor entity [see comment]. Int J Surg Pathol. 2005;13:313–318
  35. Somers GR, Viero S, Nathan PC, et al. Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report [see comment]. Am J Surg Pathol. 2005;29:1673–1679
  36. Antonescu CR, Nafa K, Segal NH, et al. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma - association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res. 2006;12:5356–5362
  37. do Nascimento Souza KC, Faria PR, Costa IM, et al. Oral alveolar soft-part sarcoma: review of literature and case report with immunohistochemistry study for prognostic markers. Oral Surg Oral Med Oral Pathol Oral Radiol Endodont. 2005;99:64–70
  38. Casanova M, Ferrari A, Bisogno G, et al. Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group. Ann Oncol. 2000;11:1445–1449
  39. Folpe AL, Deyrup AT. Alveolar soft-part sarcoma: a review and update. J Clin Pathol. 2006;59:1127–1132
  40. Ladanyi M, Lui MY, Antonescu CR, et al. The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. Oncogene. 2001;20:48–57
  41. Argani P, Lal P, Hutchinson B, et al. Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. Am J Surg Pathol. 2003;27:750–761
  42. Bourgeois JM, Knezevich SR, Mathers JA, et al. Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors. Am J Surg Pathol. 2000;24:937–946
  43. Jafarian F, McCuaig C, Kokta V, et al. Dermatofibrosarcoma protuberans in childhood and adolescence: report of eight patients. Pediatr Dermatol. 2008;25:317–325
  44. Terrier-Lacombe MJ, Guillou L, Maire G, et al. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data – a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol. 2003;27:27–39
  45. Abrams TA, Schuetze SM, Abrams TA, et al. Targeted therapy for dermatofibrosarcoma protuberans. Curr Oncol Rep. 2006;8:291–296
  46. Meng GZ, Zhang HY, Bu H, et al. Low-grade fibromyxoid sarcoma versus fibromatosis: a comparative study of clinicopathological and immunohistochemical features. Diagn Cytopathol. 2009;37:96–102
  47. Alaggio R, Coffin CM, Weiss SW, et al. Liposarcomas in young patients. Am J Surg Pathol. 2009;33:645–658
  48. Hisaoka M, Tsuji S, Morimitsu Y, et al. Detection of TLS/FUS–CHOP fusion transcripts in myxoid and round cell liposarcomas by nested reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues. Diagn Mol Pathol. 1998;7:96–101
  49. Kuroda M, Ishida T, Takanashi M, et al. Oncogenic transformation and inhibition of adipocytic conversion of preadipocytes by TLS/FUS-CHOP type II chimeric protein. Am J Pathol. 1997;151:735–744
  50. Janson K, Nedzi LA, David O, et al. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer. 2006;47:279–284
  51. Hoot AC, Russo P, Judkins AR, et al. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol. 2004;28:1485–1491
  52. Bourdeaut F, Freneaux P, Thuille B, et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol. 2007;211:323–330
  53. Modena P, Lualdi E, Facchinetti F, et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res. 2005;65:4012–4019
  54. Hornick JL, Dal CP, Fletcher CD, et al. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542–550
  55. Fisher C. Epithelioid sarcoma of Enzinger. Adv Anat Pathol. 2006;13:114–121
  56. Hasegawa T, Matsuno Y, Shimoda T, et al. Proximal-type epithelioid sarcoma: a clinicopathologic study of 20 cases. Mod Pathol. 2001;14:655–663
  57. Izumi T, Oda Y, Hasegawa T, et al. Prognostic significance of dysadherin expression in epithelioid sarcoma and its diagnostic utility in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Mod Pathol. 2006;19:820–831

PII: S1756-2317(09)00160-1

doi: 10.1016/j.mpdhp.2009.08.001

Diagnostic Histopathology
Volume 15, Issue 11 , Pages 524-530 , November 2009