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Childhood Soft Tissue Sarcoma Treatment (PDQ®)

  • Updated: 09/08/2014

Table 2. Frequent Chromosomal Aberrations Seen in Nonrhabdomyosarcomatous STSa

Histology Chromosomal Aberrations  Genes Involved 
Alveolar soft part sarcomat(x;17)(p11.2;q25)ASPL/TFE3 [29-31]
Angiomatoid fibrous histiocytomat(12;16)(q13;p11), t(2;22)(q33;q12), t(12;22)(q13;q12)FUS/ATF1, EWSR1/CREB1,[32] EWS/ATF1
Clear cell sarcomat(12;22)(q13;q12), t(2;22)(q33;q12)ATF1/EWS, EWSR1/CREB1
Congenital (infantile) fibrosarcoma/mesoblastic nephromat(12;15)(p13,q25)ETV-NTRK3
Dermatofibrosarcoma protuberanst(17;22)(q22;q13)COL1A1/PDGFB
Desmoid fibromatosisTrisomy 8 or 20, loss of 5q21CTNNB1 or APC mutations
Desmoplastic small round cell tumorst(11;22)(p13;q12)EWS/WT1 [33]
Epithelioid hemangioendotheliomat(1;3)(p36;q25) [34]WWTR1/CAMTA1
Epithelioid sarcomaInactivation SMARCB1SMARCB1
Extraskeletal myxoid chondrosarcomat(9;22)(q22;q12), t(9:17)(q22;q11), t(9;15)(q22;q21), t(3;9)(q11;q22)EWSR1/NR4A3, TAF2N/NR4A3, TCF12/NR4A3, TGF/NR4A3
Hemangiopericytomat(12;19)(q13;q13.3) and t(13;22)(q22;q13.3)
Inflammatory myofibroblastic tumort(1;2)(q23;q23), t(2;19)(q23;q13), t(2;17)(q23;q23), t(2;2)(p23;q13), t(2;11)(p23;p15) [35]TPM3/ALK, TPM4/ALK, CLTC/ALK, RANBP2/ALK, CARS/ALK
Low-grade fibromyxoid sarcomat(7;16)(q33;p11), t(11;16)(p11;p11)FUS/CREB3L2, FUS/CREB3L1
Malignant peripheral nerve sheath tumor17q11.2, loss or rearrangement 10p, 11q, 17q, 22qNF1
Myxoid/round cell liposarcomat(12;16)(q13;p11), t(12;22)(q13;q12)FUS/DD1T3, EWSR/DD1T3
Rhabdoid tumorInactivation SMARCB1SMARCB1
Synovial sarcomat(x;18)(p11.2;q11.2)SYT/SSX
Tenosynovial giant cell tumort(1;2)(p13;q35)CSF1

STS = soft tissue sarcoma.
aAdapted from Sandberg,[25] Slater et al.,[26] Mertens et al.,[27] and Romeo.[28]

References

  1. Sandberg AA: Translocations in malignant tumors. Am J Pathol 159 (6): 1979-80, 2001.  [PUBMED Abstract]

  2. Slater O, Shipley J: Clinical relevance of molecular genetics to paediatric sarcomas. J Clin Pathol 60 (11): 1187-94, 2007.  [PUBMED Abstract]

  3. Mertens F, Antonescu CR, Hohenberger P, et al.: Translocation-related sarcomas. Semin Oncol 36 (4): 312-23, 2009.  [PUBMED Abstract]

  4. Romeo S, Dei Tos AP: Clinical application of molecular pathology in sarcomas. Curr Opin Oncol 23 (4): 379-84, 2011.  [PUBMED Abstract]

  5. 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 20 (1): 48-57, 2001.  [PUBMED Abstract]

  6. Williams A, Bartle G, Sumathi VP, et al.: Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features. Virchows Arch 458 (3): 291-300, 2011.  [PUBMED Abstract]

  7. Antonescu CR, Dal Cin P, Nafa K, et al.: EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer 46 (12): 1051-60, 2007.  [PUBMED Abstract]

  8. Barnoud R, Sabourin JC, Pasquier D, et al.: Immunohistochemical expression of WT1 by desmoplastic small round cell tumor: a comparative study with other small round cell tumors. Am J Surg Pathol 24 (6): 830-6, 2000.  [PUBMED Abstract]

  9. Errani C, Zhang L, Sung YS, et al.: A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer 50 (8): 644-53, 2011.  [PUBMED Abstract]

  10. Jain S, Xu R, Prieto VG, et al.: Molecular classification of soft tissue sarcomas and its clinical applications. Int J Clin Exp Pathol 3 (4): 416-28, 2010.  [PUBMED Abstract]