The Physician's Guide to Laboratory Test Selection and Interpretation
Sarcomas are a group of uncommon malignant tumors that arise in bone and soft tissue and have a wide range of histologic types and prognoses.
Epidemiology
Classification
Risk Factors
Pathophysiology
Clinical Presentation
Click here for table of Molecular and Cytogenetic Profiles for Sarcomas Molecular and Cytogenetic Profiles for Sarcomas | ||
|---|---|---|
Sarcoma Type | Cytogenetics | Molecular |
Alveolar soft part tumor | del(17)(X;17)(p11;q25) | ASPSCR1-TFE3 |
Angiosarcoma | Complex, non-recurring | |
Benign tumors | ||
Chondroid hamartoma of the lung | 12q14-15 alterations | HMG1-C |
6p21 alterations | HMG1(Y) | |
Aneurysmal bone cyst | t(16;17) | CDH11-USP6 |
| t(1;17) | THRAP3-USP6 | |
| t(3:17) | CNBP-USP6 | |
| t(9;17) | OMD-USP6 | |
| t(17;7) | COL1A1-USP6 | |
Chondrosarcoma | ||
Extraskeletal myxoid | t(9;17)(q22;q11) | TAF15-NR4A3 |
t(9;22)(q22;q12) | ESWR1-NR4A3 | |
t(9;15)(q22;q21) | TCF12-NR4A3 | |
t(3 9)(q11;q22) | TFG-NR4A3 | |
Skeletal | Complex | |
Clear cell sarcoma | t(12;22)(q13;q12) | EWSR1-ATF1 |
t(2;22)(q33;q12) | EWSR1-CREB1 | |
Desmoplastic small round cell tumor | t(11;22)(p13;q12) | EWSR1-WT1 |
Dermatofibrosarcoma protuberans | t(17;22)(q22;13) | COL1A1-PDGFB |
Endometrial stromal tumor | t(7;17)(p15;q21) | JAZF1-SUZ12 |
t(6;7)(p21;p15) | JAZF1-PHF1 | |
t(6;10)(p21;p11) | EPC1-PHF1 | |
Epithelioid hemangioendothelioma | t(1;3)(p36;7p25) | |
Ewing sarcoma | ||
Askin tumor | t(2;22)(q33;12) | EWSR-E1AF |
t(21;22)(q22;q12) | EWSR1-ERG | |
t(7;22)(p22;q12) | EWSR1-ETV1 | |
t(17;22)(q21;q12) | EWSR1-ETV4 | |
t(2;22)(q36;q12) | EWSR1-FEV | |
t(11;22)(q24;q12) | EWSR1-FLI1 | |
inv(22)(q12;q12) | EWSR1-PATZ1 | |
t(6;22)(p21;q12) | EWSR-POU5F1 | |
t(2;22)(q31;q12) | EWSR1-SP3 | |
t(16;21)(p11;q22) | FUS-ERG | |
Fibrosarcoma, infantile | t(12;15)(p13;q24~25) | ETV6-NTRK3 |
Trisomies 8,11,17 and 20 | ||
Fibromyxoid (low grade) | t(7;16)(q32;p11) | FUS-CREB3L2 |
t(11;16)(q11;p11) | FUS-CREB3L1 | |
Fibromatosis (aggressive) | Trisomies 8 and 20 | |
Deletion 5q | ||
GIST | Monosomies 14 and 22 | KIT |
Deletion 1p | KIT | |
Histocytoma | ||
Angiomatoid-fibrous | t(12;16) | FUS-ATF1 |
t(12;22) | EWSR1-ATF1 | |
t(2;22) | EWSR1-CREB1 | |
Inflammatory myofibroblastic tumor | t(1;2)(q21;p23) | TPM3-ALK |
t(2;19)(p23;p13) | TPM4-ALK | |
t(2;17)(p23;q23) | CLTC-ALK | |
t(2;2)(p23;q13) | RANBP2-ALK | |
Leiomyoma | ||
Uterine | t(12;14)(q15;q24) or 7q deletion | |
Extrauterine | del 1p | |
Leiomyosarcoma | Complex (frequent deletion 1p) | |
Lipoblastoma | del 8q12 | PLAG1 |
Lipoma (typical) | 12q15 rearrangement | HMGA2 |
6p21 | HMGA1 | |
Liposarcoma | ||
Well-differentiated | 12q14, ring or marker chromosome | MDM2 or CHOP |
Pleomorphic | Complex | |
Myxoid/round cell | t(12;16)(q13;p11) | FUS-CHOP |
t(12;22)(q13;q12) | EWS-CHOP | |
Mesoblastic | ||
Nephroma Congenital | t(12;15) | ETV6-NTRK3 |
Mesothelioma | del 1p | |
del 9p | ||
del 22q | ||
del 3p and 6q | ||
Myxofibrosarcoma (MFH-myxoid) | Ring form of chromosome 12 | |
Neuroblastoma | 2p23 | MYCN |
del 1p36 | ||
Neurofibrosarcoma | del17q11 | |
Osteosarcoma | ||
Low grade | Ring chromosomes | |
High grade | Complex | |
Pericytoma | t(7;12) | ACTB-GLI1 |
Pleomorphic, NOS (MFH) | Complex | |
Rhabdoid tumor (extrarenal) | del 22q | SMARCB1 |
Rhabdomyosarcoma | ||
Alveolar | t(2;13)(q35;q14) | PAX3-FKHR |
t(1;13)(p36;q14) | PAX7-FKHR | |
t(2;2)(q35;p23) | PAX3-NCOA1 | |
t(x;2) | PAX3-FOXO4 | |
Embryonal | Trisomies 2q8 and 20 | |
del11p15 | ||
Pleomorphic | Complex | |
Synovial | t(X;18)(p23;q11) | SS18-SSX1 |
t(X;20)(p11;q13.3) | SS18L1-SSX1 | |
t(X;18)(p11.21;q11) | SS18-SSX2 | |
t(X;18)(p11;q11) | SS18-SSX4 | |
Schwannoma | ||
Benign | Deletion chromosome 22 | |
Low grade | None | |
High grade | Complex | |
Tenosynovial giant cell tumor | t(1;2)(p11;q35-36) | CSF1-COL6A3 |
Prognosis
| Test Name and Number | Recommended Use | Limitations | Follow Up |
|---|---|---|---|
| Chromosome FISH, Interphase 2002298 Method: Fluorescence in situ Hybridization |
Differential diagnosis of small-cell neoplasms in fluid-based samples Order SYT for determining presence of SYT (SS18) 18q11.2 translocation Order EWSR1 for determining presence of 22q12 translocation Indicate names of probes needed for testing ARUP Molecular Cytogenetics (FISH) Probe menu |
EWSR1 FISH does not identify the 22q12 translocation partner; therefore, this test by itself cannot distinguish between sarcomas involving EWSR1 (eg, Ewing tumor family, desmoplastic small round cell tumor, clear cell sarcoma, and myxoid chondrosarcoma) |
|
| Chromosome Analysis, Solid Tumor 2002296 Method: Giemsa-Band Analysis |
Detect recurrent chromosome abnormalities in tumor biopsy consistent with the diagnosis of a sarcoma |
Tumor cells may not grow well in culture and may not be present in the cells analyzed; test should be performed in conjunction with interphase FISH (2002298) when either a EWSR1 or SYT translocation is in the differential | |
| CHOP Gene Rearrangement by FISH 0049378 Method: Fluorescence in situ Hybridization |
Diagnosis of myxoid/round cell liposarcoma in paraffin-embedded tissue |
Assay indicates if translocation has occurred but not the specific translocation partner |
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| FKHR Gene Rearrangement by FISH 2001497 Method: Fluorescence in situ Hybridization |
Detect FKHR gene rearrangements for the diagnosis of alveolar rhabdomyosarcoma |
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| Ewing Sarcoma by RT-PCR 0051220 Method: Reverse Transcription Polymerase Chain Reaction/Fluorescence Monitoring |
Detect the most common types of EWS-FLI1 translocations that occur in the Ewing sarcoma family of tumors Distinguish between the EWS-FLI1 type 1 and type 2 fusions |
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| EWSR1 Break Apart Rearrangement by FISH 0049335 Method: Fluorescence in situ Hybridization |
Differential diagnosis of small-cell neoplasms in paraffin-embedded tissue Diagnose members of the Ewing family of neoplasms |
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| SYT-SSX t(X;18) Translocations by RT-PCR 0040114 Method: Reverse Transcription Polymerase Chain Reaction/Fluorescence Monitoring |
Diagnose synovial sarcoma |
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| SYT Rearrangement by FISH 0049380 Method: Fluorescence in situ Hybridization |
Diagnose synovial sarcoma |
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| Immunohistochemistry Stain Offering arup005 Method: Immunohistochemistry |
For fixed tissue samples, consultative services as well as immunohistochemical staining for CD21, CD34 (QBEND10), CD56 (NCAM), CD99 (013), muscle specific actin, myo D-1, myogenin, myoglobin, myosin, p-glycoprotein, smooth muscle actin, Ulex Europaeus, Vimentin and Desmin are available |