STBT5:Undifferentiated pleomorphic sarcoma: Difference between revisions

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<nowiki>*</nowiki>Sarcomas are very rare (1%) in adults but more prevalent (15-20%) in pediatrics. The classification of UPS comprises only 3-8% of sarcomas and is primarily a cancer of advanced age. Even though UPS-B presents at a younger age, it is extremely rare, especially so in pediatrics. <ref>Saoud C, Gundem G, Vanderbilt CM, Wexler LH, Reed DR, Tap W, Singer S, Villafania LB, Papaemmanouil E, Benhamida J, Bale TA, Antonescu CR. Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts. Mod Pathol. 2025 Aug;38(8):100769. doi: 10.1016/j.modpat.2025.100769. Epub 2025 Apr 11. PMID: 40222653; PMCID: PMC12353165.</ref>

* An iliac bone/soft tissue mass from a 13yr old male was submitted with a differential diagnosis of OS, MFS, LS, FS, UPHGS. FISH and microarray analyses demonstrated FISH negative for split signal using SS18, EWSR1 and BCOR probes, but CN gain of x4-10, x3-6 and x2-5 respectively. CMA/SNP demonstrated a highly heterogeneous/complex karyotype including multiple structural and CN gain/loss (including deletion 17p13 TP53), chromothripsis 11 chromosomes/regions (including entire chromosomes 3,17,18,22), LOH 11 chromosomes/regions (including entire chromosome 13) and amplification 6 chromosomes/regions (including 11q22 YAP1 and apoptosis inhibitors BIRC3, BIRC2). <ref>Sutcliffe, Maxine J.; et al. (2022). "Harnessing the power of microarray in the analysis of rarer pediatric sarcomas". 268-269: suppl.1(8). doi.org.10.1016/jcancergen.2022.30.011</ref>37

* An iliac bone/soft tissue mass from a 13yr old male was submitted with a differential diagnosis of OS, MFS, LS, FS, UPHGS. FISH and microarray analyses demonstrated FISH negative for split signal using SS18, EWSR1 and BCOR probes, but CN gain of x4-10, x3-6 and x2-5 respectively. CMA/SNP demonstrated a highly heterogeneous/complex karyotype including multiple structural and CN gain/loss (including deletion 17p13 TP53), chromothripsis 11 chromosomes/regions (including entire chromosomes 3,17,18,22), LOH 11 chromosomes/regions (including entire chromosome 13) and amplification 6 chromosomes/regions (including 11q22 YAP1 and apoptosis inhibitors BIRC3, BIRC2). <ref>Sutcliffe, Maxine J.; et al. (2022). "Harnessing the power of microarray in the analysis of rarer pediatric sarcomas". Cancer Genetics. 268-269: suppl.1(8). doi.org.10.1016/jcancergen.2022.30.011</ref>37

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 <nowiki>*</nowiki>Sarcomas are very rare (1%) in adults but more prevalent (15-20%) in pediatrics.  The classification of UPS comprises only 3-8% of sarcomas and is primarily a cancer of advanced age.  Even though UPS-B presents at a younger age, it is extremely rare, especially so in pediatrics. <ref>Saoud C, Gundem G, Vanderbilt CM, Wexler LH, Reed DR, Tap W, Singer S, Villafania LB, Papaemmanouil E, Benhamida J, Bale TA, Antonescu CR. Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts. Mod Pathol. 2025 Aug;38(8):100769. doi: 10.1016/j.modpat.2025.100769. Epub 2025 Apr 11. PMID: 40222653; PMCID: PMC12353165.</ref>
-* An iliac bone/soft tissue mass from a 13yr old male was submitted with a differential diagnosis of OS, MFS, LS, FS, UPHGS.  FISH and microarray analyses demonstrated FISH negative for split signal using SS18, EWSR1 and BCOR probes, but CN gain of x4-10, x3-6 and x2-5 respectively. CMA/SNP demonstrated a highly heterogeneous/complex karyotype including multiple structural and CN gain/loss (including deletion 17p13 TP53), chromothripsis 11 chromosomes/regions (including entire chromosomes 3,17,18,22), LOH 11 chromosomes/regions (including entire chromosome 13) and amplification 6 chromosomes/regions (including 11q22 YAP1 and apoptosis inhibitors BIRC3, BIRC2). <ref>Sutcliffe, Maxine J.; et al. (2022). "Harnessing the power of microarray in the analysis of rarer pediatric sarcomas". 268-269: suppl.1(8). doi.org.10.1016/jcancergen.2022.30.011</ref>37
+* An iliac bone/soft tissue mass from a 13yr old male was submitted with a differential diagnosis of OS, MFS, LS, FS, UPHGS.  FISH and microarray analyses demonstrated FISH negative for split signal using SS18, EWSR1 and BCOR probes, but CN gain of x4-10, x3-6 and x2-5 respectively. CMA/SNP demonstrated a highly heterogeneous/complex karyotype including multiple structural and CN gain/loss (including deletion 17p13 TP53), chromothripsis 11 chromosomes/regions (including entire chromosomes 3,17,18,22), LOH 11 chromosomes/regions (including entire chromosome 13) and amplification 6 chromosomes/regions (including 11q22 YAP1 and apoptosis inhibitors BIRC3, BIRC2). <ref>Sutcliffe, Maxine J.; et al. (2022). "Harnessing the power of microarray in the analysis of rarer pediatric sarcomas". Cancer Genetics. 268-269: suppl.1(8). doi.org.10.1016/jcancergen.2022.30.011</ref>37
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