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HAEM5:Histiocytic sarcoma (view source)

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Patients with histiocytic sarcoma often present with systemic symptoms such as fatigue, weight loss and fever. Additional clinical manifestations are often related to site(s) of disease involvement. Some patients may come to clinical attention with a palpable mass or from organ compression by the malignant mass. Skin lesions may range from a minor rash to multiple tumors on the trunk and extremities. Gastrointestinal involvement may present with intestinal obstruction. Lytic lesions may arise from bone involvement. Hepatosplenomegaly is also described. Cytopenias are found in about a third of patients, with hemophagocytosis seen on bone marrow evaluation in a small fraction of patients. Additionally, histiocytic sarcoma may present in the setting of another hematologic neoplasm such as follicular lymphoma, acute myeloid leukemia, acute lymphoblastic leukemia, mantle cell lymphoma, hairy cell leukemia, chronic lymphocytic leukemia or MALT lymphoma. <ref name=":1" /><ref name=":3" /><ref>{{Cite journal|last=Zhang|first=Da|last2=McGuirk|first2=Joseph|last3=Ganguly|first3=Siddhartha|last4=Persons|first4=Diane L.|date=2009-05|title=Histiocytic/dendritic cell sarcoma arising from follicular lymphoma involving the bone: a case report and review of literature|url=https://pubmed.ncbi.nlm.nih.gov/19343479|journal=International Journal of Hematology|volume=89|issue=4|pages=529–532|doi=10.1007/s12185-009-0300-y|issn=1865-3774|pmid=19343479}}</ref><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><ref>{{Cite journal|last=Alvaro|first=T.|last2=Bosch|first2=R.|last3=Salvadó|first3=M. T.|last4=Piris|first4=M. A.|date=1996-11|title=True histiocytic lymphoma of the stomach associated with low-grade B-cell mucosa-associated lymphoid tissue (MALT)-type lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/8898846|journal=The American Journal of Surgical Pathology|volume=20|issue=11|pages=1406–1411|doi=10.1097/00000478-199611000-00013|issn=0147-5185|pmid=8898846}}</ref><ref>{{Cite journal|last=Bouabdallah|first=R.|last2=Abéna|first2=P.|last3=Chetaille|first3=B.|last4=Aurran-Schleinitz|first4=T.|last5=Sainty|first5=D.|last6=Dubus|first6=P.|last7=Arnoulet|first7=C.|last8=Coso|first8=D.|last9=Xerri|first9=L.|date=2001-06|title=True histiocytic lymphoma following B-acute lymphoblastic leukaemia: case report with evidence for a common clonal origin in both neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/11442501|journal=British Journal of Haematology|volume=113|issue=4|pages=1047–1050|doi=10.1046/j.1365-2141.2001.02841.x|issn=0007-1048|pmid=11442501}}</ref><ref>{{Cite journal|last=Castro|first=Eumenia C. C.|last2=Blazquez|first2=Cristina|last3=Boyd|first3=Jaime|last4=Correa|first4=Hernán|last5=de Chadarevian|first5=J.-P.|last6=Felgar|first6=Raymond E.|last7=Graf|first7=Nicole|last8=Levy|first8=Norman|last9=Lowe|first9=Eric J.|date=2010-05|title=Clinicopathologic features of histiocytic lesions following ALL, with a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/19642834|journal=Pediatric and Developmental Pathology: The Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|volume=13|issue=3|pages=225–237|doi=10.2350/09-03-0622-OA.1|issn=1093-5266|pmid=19642834}}</ref><ref>{{Cite journal|last=Kumar|first=Riten|last2=Khan|first2=Shakila P.|last3=Joshi|first3=Divya-Devi|last4=Shaw|first4=Gene R.|last5=Ketterling|first5=Rhett P.|last6=Feldman|first6=Andrew L.|date=2011-02|title=Pediatric histiocytic sarcoma clonally related to precursor B-cell acute lymphoblastic leukemia with homozygous deletion of CDKN2A encoding p16INK4A|url=https://pubmed.ncbi.nlm.nih.gov/20973102|journal=Pediatric Blood & Cancer|volume=56|issue=2|pages=307–310|doi=10.1002/pbc.22810|issn=1545-5017|pmid=20973102}}</ref><ref>{{Cite journal|last=McClure|first=Rebecca|last2=Khoury|first2=Joseph|last3=Feldman|first3=Andrew|last4=Ketterling|first4=Rhett|date=2010-02|title=Clonal relationship between precursor B-cell acute lymphoblastic leukemia and histiocytic sarcoma: a case report and discussion in the context of similar cases|url=https://pubmed.ncbi.nlm.nih.gov/19744706|journal=Leukemia Research|volume=34|issue=2|pages=e71–73|doi=10.1016/j.leukres.2009.08.020|issn=1873-5835|pmid=19744706}}</ref><ref>{{Cite journal|last=Michonneau|first=David|last2=Kaltenbach|first2=Sophie|last3=Derrieux|first3=Coralie|last4=Trinquand|first4=Amelie|last5=Brouzes|first5=Chantal|last6=Gibault|first6=Laure|last7=North|first7=Marie-Odile|last8=Delarue|first8=Richard|last9=Varet|first9=Bruno|date=2014-12-10|title=BRAF(V600E) mutation in a histiocytic sarcoma arising from hairy cell leukemia|url=https://pubmed.ncbi.nlm.nih.gov/24567436|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=32|issue=35|pages=e117–121|doi=10.1200/JCO.2013.49.0078|issn=1527-7755|pmid=24567436}}</ref><ref>{{Cite journal|last=Shao|first=Haipeng|last2=Xi|first2=Liqiang|last3=Raffeld|first3=Mark|last4=Feldman|first4=Andrew L.|last5=Ketterling|first5=Rhett P.|last6=Knudson|first6=Ryan|last7=Rodriguez-Canales|first7=Jaime|last8=Hanson|first8=Jeffrey|last9=Pittaluga|first9=Stefania|date=2011-11|title=Clonally related histiocytic/dendritic cell sarcoma and chronic lymphocytic leukemia/small lymphocytic lymphoma: a study of seven cases|url=https://pubmed.ncbi.nlm.nih.gov/21666687|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=24|issue=11|pages=1421–1432|doi=10.1038/modpathol.2011.102|issn=1530-0285|pmc=3175277|pmid=21666687}}</ref> Association of HS with a germ cell tumor or autoimmune lymphoproliferative syndrome has also been described.<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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==Sites of Involvement==

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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.

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* Individual Region Genomic Gain/Loss/LOH

* Characteristic Chromosomal Patterns

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* Gene Mutations (SNV/INDEL)}}

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* Gene Mutations (SNV/INDEL)}}</blockquote>

Histiocytic sarcoma is a very rare neoplasm and very little is known about the genetic landscape of this malignancy. Reports on the clinical significance of genomic alterations are scarce and limited to case reports and case series, limiting the ability to draw conclusions regarding their prognostic and therapeutic significance.

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Therapeutic: While case reports have documented the use of BRAF inhibitors in the setting of ''BRAF'' V600E mutations and of MEK inhibitors for ''MAP2K1'' pathway mutations, these agents should not be used as first-line therapy outside of a clinical trial.

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==Individual Region Genomic Gain / Loss / LOH==

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None recurrent.

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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" />

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==Characteristic Chromosomal Patterns==

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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" />

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==Gene Mutations (SNV / INDEL)==

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''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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Please refer to the above “Gene Mutations (SNV/INDEL)” section.

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==Epigenomic Alterations==

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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>

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==Genetic Diagnostic Testing Methods==

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