HAEM5:Histiocytic sarcoma: Difference between revisions
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{{DISPLAYTITLE:Histiocytic sarcoma}} | {{DISPLAYTITLE:Histiocytic sarcoma}} | ||
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]] | ||
{{Under Construction}} | {{Under Construction}} | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Histiocytic Sarcoma]]. | ||
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|Subtype(s) | |Subtype(s) | ||
|Histiocytic sarcoma | |Histiocytic sarcoma | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Very few reports have described the genetic landscape of histiocytic sarcoma, with current literature being restricted to case reports and case series, thus limiting the ability to derive a comprehensive portrait of genetic alterations in HS. | Very few reports have described the genetic landscape of histiocytic sarcoma, with current literature being restricted to case reports and case series, thus limiting the ability to derive a comprehensive portrait of genetic alterations in HS. | ||
No universal or recurrent chromosomal rearrangement are identified in histiocytic sarcoma. In cases where HS arises in association with follicular lymphoma, both neoplasms may exhibit the translocation t(14;18)(q32;q21) with identical breakpoints. In fact, such cases may reflect a phenomenon of transdifferentiation from a lymphoid to a histiocytic phenotype. This was suggested by Feldman et al. in a compelling study reporting on 8 cases of clonally related follicular lymphoma and HS (with presence of t(14;18) in both tumors and identical ''IGH'' and ''BCL2'' gene rearrangements). The authors posited that transdifferentiation may be mediated by changes in transcription factors (as evidenced by repression of PAX5, a B-cell lineage commitment factor, with upregulation of the myeloid transcription factors C/EBPα and β). <ref name=":1" /> Interestingly, the translocation t(14;18) has also rarely been documented in sporadic HS. <ref>{{Cite journal|last=Hayase|first=Eiko|last2=Kurosawa|first2=Mitsutoshi|last3=Yonezumi|first3=Masakatsu|last4=Suzuki|first4=Sachiko|last5=Suzuki|first5=Hiroaki|date=2010-11|title=Aggressive sporadic histiocytic sarcoma with immunoglobulin heavy chain gene rearrangement and t(14;18)|url=https://pubmed.ncbi.nlm.nih.gov/20976632|journal=International Journal of Hematology|volume=92|issue=4|pages=659–663|doi=10.1007/s12185-010-0704-8|issn=1865-3774|pmid=20976632}}</ref><ref name=":12">{{Cite journal|last=Chen|first=Wei|last2=Lau|first2=Sean K.|last3=Fong|first3=Dean|last4=Wang|first4=Jun|last5=Wang|first5=Endi|last6=Arber|first6=Daniel A.|last7=Weiss|first7=Lawrence M.|last8=Huang|first8=Qin|date=2009-06|title=High frequency of clonal immunoglobulin receptor gene rearrangements in sporadic histiocytic/dendritic cell sarcomas|url=https://pubmed.ncbi.nlm.nih.gov/19145200|journal=The American Journal of Surgical Pathology|volume=33|issue=6|pages=863–873|doi=10.1097/PAS.0b013e31819287b8|issn=1532-0979|pmid=19145200}}</ref> Similarly, a ''CCND1-IgH'' fusion has been described by Hure et al in patients diagnosed with HS and mantle cell lymphoma.<ref name=":5" /> In addition, other gene fusions have been reported sporadically in individual cases. For example, Egan et al have identified a novel fusion between exon 12 of ''TTYH3'' and exon 8 of ''BRAF'' on chromosome 7 using RNA-Seq. This ''TTYH3-BRAF'' fusion, subsequently confirmed with RT-PCR, was associated with increased levels of BRAF transcripts.<ref name=":6">{{Cite journal|last=Egan|first=Caoimhe|last2=Nicolae|first2=Alina|last3=Lack|first3=Justin|last4=Chung|first4=Hye-Jung|last5=Skarshaug|first5=Shannon|last6=Pham|first6=Thu Anh|last7=Navarro|first7=Winnifred|last8=Abdullaev|first8=Zied|last9=Aguilera|first9=Nadine S.|date=2020-04|title=Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups|url=https://pubmed.ncbi.nlm.nih.gov/31439678|journal=Haematologica|volume=105|issue=4|pages=951–960|doi=10.3324/haematol.2019.230375|issn=1592-8721|pmc=7109753|pmid=31439678}}</ref> | No universal or recurrent chromosomal rearrangement are identified in histiocytic sarcoma. In cases where HS arises in association with follicular lymphoma, both neoplasms may exhibit the translocation t(14;18)(q32;q21) with identical breakpoints. In fact, such cases may reflect a phenomenon of transdifferentiation from a lymphoid to a histiocytic phenotype. This was suggested by Feldman et al. in a compelling study reporting on 8 cases of clonally related follicular lymphoma and HS (with presence of t(14;18) in both tumors and identical ''IGH'' and ''BCL2'' gene rearrangements). The authors posited that transdifferentiation may be mediated by changes in transcription factors (as evidenced by repression of PAX5, a B-cell lineage commitment factor, with upregulation of the myeloid transcription factors C/EBPα and β). <ref name=":1">{{Cite journal|last=Feldman|first=Andrew L.|last2=Arber|first2=Daniel A.|last3=Pittaluga|first3=Stefania|last4=Martinez|first4=Antonio|last5=Burke|first5=Jerome S.|last6=Raffeld|first6=Mark|last7=Camos|first7=Mireia|last8=Warnke|first8=Roger|last9=Jaffe|first9=Elaine S.|date=2008-06-15|title=Clonally related follicular lymphomas and histiocytic/dendritic cell sarcomas: evidence for transdifferentiation of the follicular lymphoma clone|url=https://pubmed.ncbi.nlm.nih.gov/18272816|journal=Blood|volume=111|issue=12|pages=5433–5439|doi=10.1182/blood-2007-11-124792|issn=1528-0020|pmc=2424145|pmid=18272816}}</ref> Interestingly, the translocation t(14;18) has also rarely been documented in sporadic HS. <ref>{{Cite journal|last=Hayase|first=Eiko|last2=Kurosawa|first2=Mitsutoshi|last3=Yonezumi|first3=Masakatsu|last4=Suzuki|first4=Sachiko|last5=Suzuki|first5=Hiroaki|date=2010-11|title=Aggressive sporadic histiocytic sarcoma with immunoglobulin heavy chain gene rearrangement and t(14;18)|url=https://pubmed.ncbi.nlm.nih.gov/20976632|journal=International Journal of Hematology|volume=92|issue=4|pages=659–663|doi=10.1007/s12185-010-0704-8|issn=1865-3774|pmid=20976632}}</ref><ref name=":12">{{Cite journal|last=Chen|first=Wei|last2=Lau|first2=Sean K.|last3=Fong|first3=Dean|last4=Wang|first4=Jun|last5=Wang|first5=Endi|last6=Arber|first6=Daniel A.|last7=Weiss|first7=Lawrence M.|last8=Huang|first8=Qin|date=2009-06|title=High frequency of clonal immunoglobulin receptor gene rearrangements in sporadic histiocytic/dendritic cell sarcomas|url=https://pubmed.ncbi.nlm.nih.gov/19145200|journal=The American Journal of Surgical Pathology|volume=33|issue=6|pages=863–873|doi=10.1097/PAS.0b013e31819287b8|issn=1532-0979|pmid=19145200}}</ref> Similarly, a ''CCND1-IgH'' fusion has been described by Hure et al in patients diagnosed with HS and mantle cell lymphoma.<ref name=":5">{{Cite journal|last=Hure|first=Michelle C.|last2=Elco|first2=Christopher P.|last3=Ward|first3=David|last4=Hutchinson|first4=Lloyd|last5=Meng|first5=Xiuling|last6=Dorfman|first6=David M.|last7=Yu|first7=Hongbo|date=2012-02-10|title=Histiocytic sarcoma arising from clonally related mantle cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/22184374|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=30|issue=5|pages=e49–53|doi=10.1200/JCO.2011.38.8553|issn=1527-7755|pmid=22184374}}</ref> In addition, other gene fusions have been reported sporadically in individual cases. For example, Egan et al have identified a novel fusion between exon 12 of ''TTYH3'' and exon 8 of ''BRAF'' on chromosome 7 using RNA-Seq. This ''TTYH3-BRAF'' fusion, subsequently confirmed with RT-PCR, was associated with increased levels of BRAF transcripts.<ref name=":6">{{Cite journal|last=Egan|first=Caoimhe|last2=Nicolae|first2=Alina|last3=Lack|first3=Justin|last4=Chung|first4=Hye-Jung|last5=Skarshaug|first5=Shannon|last6=Pham|first6=Thu Anh|last7=Navarro|first7=Winnifred|last8=Abdullaev|first8=Zied|last9=Aguilera|first9=Nadine S.|date=2020-04|title=Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups|url=https://pubmed.ncbi.nlm.nih.gov/31439678|journal=Haematologica|volume=105|issue=4|pages=951–960|doi=10.3324/haematol.2019.230375|issn=1592-8721|pmc=7109753|pmid=31439678}}</ref> | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in: | ||
* Chromosomal Rearrangements (Gene Fusions) | * Chromosomal Rearrangements (Gene Fusions) | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
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None recurrent. | None recurrent. | ||
In a series of 28 cases of HS assessed with targeted next-generation sequencing, ''CDKN2A'' was frequently inactivated by focal deletion at 9p21.3.<ref name=":7">{{Cite journal|last=Shanmugam|first=Vignesh|last2=Griffin|first2=Gabriel K.|last3=Jacobsen|first3=Eric D.|last4=Fletcher|first4=Christopher D. M.|last5=Sholl|first5=Lynette M.|last6=Hornick|first6=Jason L.|date=2019-06|title=Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/30626916|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=32|issue=6|pages=830–843|doi=10.1038/s41379-018-0200-x|issn=1530-0285|pmid=30626916}}</ref> Loss of ''CDKN2A'' has also been documented in some patients by FISH analysis.<ref name=":6" /> Copy-number loss or Loss-of-heterozygosity (LOH) involving chromosome 17 (including the ''NF1'' gene) and amplification of ''PTPN11'' can also be seen.<ref name=":6" /> In a case series describing three pediatric patients with clonally related HS with predating acute leukemia, methylation array profiling revealed the presence of ''CDKN2A'' deletions at chromosome 9p in two patients.<ref name=":2" /> | In a series of 28 cases of HS assessed with targeted next-generation sequencing, ''CDKN2A'' was frequently inactivated by focal deletion at 9p21.3.<ref name=":7">{{Cite journal|last=Shanmugam|first=Vignesh|last2=Griffin|first2=Gabriel K.|last3=Jacobsen|first3=Eric D.|last4=Fletcher|first4=Christopher D. M.|last5=Sholl|first5=Lynette M.|last6=Hornick|first6=Jason L.|date=2019-06|title=Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/30626916|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=32|issue=6|pages=830–843|doi=10.1038/s41379-018-0200-x|issn=1530-0285|pmid=30626916}}</ref> Loss of ''CDKN2A'' has also been documented in some patients by FISH analysis.<ref name=":6" /> Copy-number loss or Loss-of-heterozygosity (LOH) involving chromosome 17 (including the ''NF1'' gene) and amplification of ''PTPN11'' can also be seen.<ref name=":6" /> In a case series describing three pediatric patients with clonally related HS with predating acute leukemia, methylation array profiling revealed the presence of ''CDKN2A'' deletions at chromosome 9p in two patients.<ref name=":2">{{Cite journal|last=Bleeke|first=Matthias|last2=Johann|first2=Pascal|last3=Gröbner|first3=Susanne|last4=Alten|first4=Julia|last5=Cario|first5=Gunnar|last6=Schäfer|first6=Hansjörg|last7=Klapper|first7=Wolfram|last8=Khoury|first8=Joseph|last9=Pfister|first9=Stefan|date=2020-02|title=Genome-wide analysis of acute leukemia and clonally related histiocytic sarcoma in a series of three pediatric patients|url=https://pubmed.ncbi.nlm.nih.gov/31737984|journal=Pediatric Blood & Cancer|volume=67|issue=2|pages=e28074|doi=10.1002/pbc.28074|issn=1545-5017|pmid=31737984}}</ref> | ||
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<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
No characteristic chromosomal aberrations have been described in HS. Rarely, histiocytic sarcoma may arise in patients with mediastinal germ cell tumor. In this setting, the germ cell tumor and HS may display isochromosome 12p.<ref name=":13" /> | No characteristic chromosomal aberrations have been described in HS. Rarely, histiocytic sarcoma may arise in patients with mediastinal germ cell tumor. In this setting, the germ cell tumor and HS may display isochromosome 12p.<ref name=":13">{{Cite journal|last=Nichols|first=C. R.|last2=Roth|first2=B. J.|last3=Heerema|first3=N.|last4=Griep|first4=J.|last5=Tricot|first5=G.|date=1990-05-17|title=Hematologic neoplasia associated with primary mediastinal germ-cell tumors|url=https://pubmed.ncbi.nlm.nih.gov/2158625|journal=The New England Journal of Medicine|volume=322|issue=20|pages=1425–1429|doi=10.1056/NEJM199005173222004|issn=0028-4793|pmid=2158625}}</ref> | ||
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | |}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | ||
<blockquote class= | <blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
''BRAF'' mutations (V600E and non-V600E) have been identified in a subset of patients with histiocytic sarcoma. Additionally, a study in which targeted next-generation sequencing was performed on 28 cases, reported recurrent mutations in the MAP kinase pathway (including ''KRAS, NRAS, MAP2K1, BRAF, PTPN11, NF1, CBL''), and the PI3K signaling pathway (including ''PTEN, MTOR, PIK2R1, PIK3CA''). Also, some cases, mostly those with a prior diagnosis of B-cell lymphoma, harbored a mutational signature of “aberrant somatic hypermutation” with mutations in genes such as ''BCL6, BCL2, CIITA, MYC, SOCS1, PAX5''. In this study, ''CDNK2A'' was the most commonly altered gene (13/28, 46%). The authors identified a mean coding mutational burden of 3.56/Mb in their cohort, a number that is relatively low as compared with other malignancies.<ref name=":7" /> In another series reporting on 21 cases of primary HS investigated with whole-exome sequencing and RNA sequencing, Egan et al identified a high frequency of alterations within the RAS/RAF/MAPK pathway (such as ''NF1, PTPN11, MAP2K1, NRAS, KRAS'').<ref name=":6" /> | ''BRAF'' mutations (V600E and non-V600E) have been identified in a subset of patients with histiocytic sarcoma. Additionally, a study in which targeted next-generation sequencing was performed on 28 cases, reported recurrent mutations in the MAP kinase pathway (including ''KRAS, NRAS, MAP2K1, BRAF, PTPN11, NF1, CBL''), and the PI3K signaling pathway (including ''PTEN, MTOR, PIK2R1, PIK3CA''). Also, some cases, mostly those with a prior diagnosis of B-cell lymphoma, harbored a mutational signature of “aberrant somatic hypermutation” with mutations in genes such as ''BCL6, BCL2, CIITA, MYC, SOCS1, PAX5''. In this study, ''CDNK2A'' was the most commonly altered gene (13/28, 46%). The authors identified a mean coding mutational burden of 3.56/Mb in their cohort, a number that is relatively low as compared with other malignancies.<ref name=":7" /> In another series reporting on 21 cases of primary HS investigated with whole-exome sequencing and RNA sequencing, Egan et al identified a high frequency of alterations within the RAS/RAF/MAPK pathway (such as ''NF1, PTPN11, MAP2K1, NRAS, KRAS'').<ref name=":6" /> | ||
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A recent molecular profiling study by Shanmugam et al highlighted that alterations in the MAP kinase, PI3K- and cyclin-CDK4/6-INK4 signaling pathways appear involved in the pathogenesis of histiocytic sarcoma.<ref name=":7" /> Egan et al also identified a high frequency of alterations within the RAS/RAF/MAPK pathway.<ref name=":6" /> Histiocytic sarcoma may also be associated with perturbations of chromatin regulation.<ref>{{Cite journal|last=Hung|first=Yin P.|last2=Qian|first2=Xiaohua|date=2020-05|title=Histiocytic Sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/31070934|journal=Archives of Pathology & Laboratory Medicine|volume=144|issue=5|pages=650–654|doi=10.5858/arpa.2018-0349-RS|issn=1543-2165|pmid=31070934}}</ref> | A recent molecular profiling study by Shanmugam et al highlighted that alterations in the MAP kinase, PI3K- and cyclin-CDK4/6-INK4 signaling pathways appear involved in the pathogenesis of histiocytic sarcoma.<ref name=":7" /> Egan et al also identified a high frequency of alterations within the RAS/RAF/MAPK pathway.<ref name=":6" /> Histiocytic sarcoma may also be associated with perturbations of chromatin regulation.<ref>{{Cite journal|last=Hung|first=Yin P.|last2=Qian|first2=Xiaohua|date=2020-05|title=Histiocytic Sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/31070934|journal=Archives of Pathology & Laboratory Medicine|volume=144|issue=5|pages=650–654|doi=10.5858/arpa.2018-0349-RS|issn=1543-2165|pmid=31070934}}</ref> | ||
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==Notes== | ==Notes== | ||
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<nowiki>*</nowiki>''Citation of this Page'': “Histiocytic sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Histiocytic_sarcoma</nowiki>. | <nowiki>*</nowiki>''Citation of this Page'': “Histiocytic sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Histiocytic_sarcoma</nowiki>. | ||
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases H]] | [[Category:HAEM5]] | ||
[[Category:DISEASE]] | |||
[[Category:Diseases H]] | |||