Compendium of Cancer Genome Aberrations

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{{DISPLAYTITLE:Blastic plasmacytoid dendritic cell neoplasm}}
{{DISPLAYTITLE:Blastic plasmacytoid dendritic cell neoplasm}}
[[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='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:Blastic Plasmacytoid Dendritic Cell Neoplasm]].
<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:Blastic Plasmacytoid Dendritic Cell Neoplasm]].
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==Definition / Description of Disease==
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, clinically aggressive hematologic malignancy that derives from precursors of plasmacytoid dendritic cells (pDCs)<ref name=":0">Fachetti F, et al., (2017). Blastic plasmacytoid dendritic cell neoplasm, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p174-177.</ref><ref name=":1">{{Cite journal|last=Sapienza|first=Maria Rosaria|last2=Pileri|first2=Alessandro|last3=Derenzini|first3=Enrico|last4=Melle|first4=Federica|last5=Motta|first5=Giovanna|last6=Fiori|first6=Stefano|last7=Calleri|first7=Angelica|last8=Pimpinelli|first8=Nicola|last9=Tabanelli|first9=Valentina|date=2019|title=Blastic Plasmacytoid Dendritic Cell Neoplasm: State of the Art and Prospects|url=https://www.ncbi.nlm.nih.gov/pubmed/31035408|journal=Cancers|volume=11|issue=5|doi=10.3390/cancers11050595|issn=2072-6694|pmc=6562663|pmid=31035408}}</ref>.
==Synonyms / Terminology==
* Agranular CD4+ NK cell leukaemia (obsolete)<ref name=":0" />
* Blastic NK leukaemia/lymphoma (obsolete)<ref name=":0" />
* Agranular CD4+ CD56+ hematodermic neoplasm/tumor<ref name=":0" /><ref name=":1" />
==Epidemiology / Prevalence==
*BPDCN is rare, estimated to represent < 1% of all hematologic malignancies<ref name=":0" />.
*The incidence of BPDCN in the USA: 0.04 cases per 100,000 individuals<ref name=":2">{{Cite journal|last=Khoury|first=Joseph D.|date=2018|title=Blastic Plasmacytoid Dendritic Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30350260|journal=Current Hematologic Malignancy Reports|volume=13|issue=6|pages=477–483|doi=10.1007/s11899-018-0489-z|issn=1558-822X|pmid=30350260}}</ref>.
*BPDCN has no known racial or ethnic predilection.
*Though BPDCN can occur at any age, it more commonly occurs in elderly patients with a mean/median patient age at diagnosis of 61-67 years<ref name=":0" /><ref name=":3">{{Cite journal|last=Kerr|first=Daniel|last2=Zhang|first2=Ling|last3=Sokol|first3=Lubomir|date=2019|title=Blastic Plasmacytoid Dendritic Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30715612|journal=Current Treatment Options in Oncology|volume=20|issue=1|pages=9|doi=10.1007/s11864-019-0605-x|issn=1534-6277|pmid=30715612}}</ref>.
*It most often affects males, with a male-to-female ratio of 3.3:1<ref name=":0" />.
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote>
Typical BPDCN patients may have two stages<ref name=":0" />:
o  First stage: affects the skin , usually contained or indolent
o  Second stage:  rapid leukemic spread and multi-organ involvement that eventually leads to death<ref name=":0" />.
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
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==Sites of Involvement==
*Multiple sites are frequently involved by BPDCN. The three most common are the skin (in 60–100% cases), followed by the bone-marrow and peripheral blood (in 60–90% of cases), and thirdly the lymph nodes (in 40–50% of cases)<ref name=":0" />.
*Upon diagnosis, the central nervous system (CNS) is also frequently found to be involved, and up to one third of patients have CNS involvement at relapse<ref name=":2" />.
==Morphologic Features==
*BPDCN is commonly characterized by a diffuse, monomorphous infiltrate of small or medium-sized blasts<ref name=":0" />.
*The morphology of the neoplastic cells is similar to lymphoblasts or myeloblasts:  high N: C ratio, eccentrically located nucleus, fine chromatin, a prominent nucleolus and scant amphophilic cytoplasm<ref name=":0" />.
*Mitoses are variable in number, and the Ki-67 rate ranges from 20 to 80%<ref name=":0" />.
*Necrosis may present.
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|}
<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote>
*BPDCN cells express CD4, CD43, CD45RA, CD56, and the pDC associated antigens, including CD123 (IL3 α chain receptor), CD303, TCL1A, CD2AP, and TCF4<ref name=":0" /><ref name=":1" /><ref name=":2" />.
*BPDCN is characterized by high expression levels of CD123 and weak expression of CD45<ref name=":0" />.
*BPDCN cells are negative for lineage-specific markers including CD3, CD19, and myeloperoxidase<ref name=":0" /><ref name=":2" />.
*BPDCN cells also do not express myeloid cell nuclear differentiation antigen (MNDA)<ref name=":2" />.
*BPDCN cells in some cases variably express CD2, CD5, CD7, CD33, CD38, CD68, CD117, HLA-DR, and TdT<ref name=":0" /><ref name=":2" />.
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
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</blockquote>
==WHO Essential and Desirable Genetic Diagnostic Criteria==
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>


A recurrent balanced translocation t(6;8)(p21;q24) involving the ''MYC'' locus was exclusively identified in BPDCN<ref name=":4">{{Cite journal|last=Kubota|first=Sho|last2=Tokunaga|first2=Kenji|last3=Umezu|first3=Tomohiro|last4=Yokomizo-Nakano|first4=Takako|last5=Sun|first5=Yuqi|last6=Oshima|first6=Motohiko|last7=Tan|first7=Kar Tong|last8=Yang|first8=Henry|last9=Kanai|first9=Akinori|date=2019|title=Lineage-specific RUNX2 super-enhancer activates MYC and promotes the development of blastic plasmacytoid dendritic cell neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30971697|journal=Nature Communications|volume=10|issue=1|pages=1653|doi=10.1038/s41467-019-09710-z|issn=2041-1723|pmc=6458132|pmid=30971697}}</ref><ref name=":5">{{Cite journal|last=Sumarriva Lezama|first=Lhara|last2=Chisholm|first2=Karen M.|last3=Carneal|first3=Eugene|last4=Nagy|first4=Alexandra|last5=Cascio|first5=Michael J.|last6=Yan|first6=Jie|last7=Chang|first7=Chung-Che|last8=Cherry|first8=Athena|last9=George|first9=Tracy I.|date=2018|title=An analysis of blastic plasmacytoid dendritic cell neoplasm with translocations involving the MYC locus identifies t(6;8)(p21;q24) as a recurrent cytogenetic abnormality|url=https://www.ncbi.nlm.nih.gov/pubmed/29884995|journal=Histopathology|volume=73|issue=5|pages=767–776|doi=10.1111/his.13668|issn=1365-2559|pmid=29884995}}</ref><ref name=":6">{{Cite journal|last=Nakamura|first=Y.|last2=Kayano|first2=H.|last3=Kakegawa|first3=E.|last4=Miyazaki|first4=H.|last5=Nagai|first5=T.|last6=Uchida|first6=Y.|last7=Ito|first7=Y.|last8=Wakimoto|first8=N.|last9=Mori|first9=S.|date=2015|title=Identification of SUPT3H as a novel 8q24/MYC partner in blastic plasmacytoid dendritic cell neoplasm with t(6;8)(p21;q24) translocation|url=https://www.ncbi.nlm.nih.gov/pubmed/25860292|journal=Blood Cancer Journal|volume=5|pages=e301|doi=10.1038/bcj.2015.26|issn=2044-5385|pmc=4450326|pmid=25860292}}</ref><ref name=":7">{{Cite journal|last=Sakamoto|first=Kana|last2=Katayama|first2=Ryohei|last3=Asaka|first3=Reimi|last4=Sakata|first4=Seiji|last5=Baba|first5=Satoko|last6=Nakasone|first6=Hideki|last7=Koike|first7=Sumie|last8=Tsuyama|first8=Naoko|last9=Dobashi|first9=Akito|date=2018|title=Recurrent 8q24 rearrangement in blastic plasmacytoid dendritic cell neoplasm: association with immunoblastoid cytomorphology, MYC expression, and drug response|url=https://www.ncbi.nlm.nih.gov/pubmed/29795241|journal=Leukemia|volume=32|issue=12|pages=2590–2603|doi=10.1038/s41375-018-0154-5|issn=1476-5551|pmid=29795241}}</ref><ref name=":8">{{Cite journal|last=Boddu|first=Prajwal C.|last2=Wang|first2=Sa A.|last3=Pemmaraju|first3=Naveen|last4=Tang|first4=Zhenya|last5=Hu|first5=Shimin|last6=Li|first6=Shaoying|last7=Xu|first7=Jie|last8=Medeiros|first8=L. Jeffrey|last9=Tang|first9=Guilin|date=2018|title=8q24/MYC rearrangement is a recurrent cytogenetic abnormality in blastic plasmacytoid dendritic cell neoplasms|url=https://www.ncbi.nlm.nih.gov/pubmed/29407586|journal=Leukemia Research|volume=66|pages=73–78|doi=10.1016/j.leukres.2018.01.013|issn=1873-5835|pmid=29407586}}</ref>. The prevalence of ''MYC'' translocation in BPDCN is 5% -12%<ref name=":5" />. Rearrangements involving the ''MYC'' locus on 8q24 are associated with MYC protein overexpression and specific clinical features, including older onset age and shorter median survival<ref name=":5" />. ''RUNX2'', located on chromosome 6p21, is strongly expressed in pDCs and BPDCN cells. The t(6,8) generates mutant-allele super-enhancer of ''RUNX2'' which may increase the expression of MYC and lead to the development of BPDCN<ref name=":4" />. SUPT3H, a TATA-binding protein-associated factors (TAF)-associated protein, was identified as a novel 8q24/''MYC'' partner in BPDCN<ref name=":6" />.
A recurrent balanced translocation t(6;8)(p21;q24) involving the ''MYC'' locus was exclusively identified in BPDCN<ref name=":4">{{Cite journal|last=Kubota|first=Sho|last2=Tokunaga|first2=Kenji|last3=Umezu|first3=Tomohiro|last4=Yokomizo-Nakano|first4=Takako|last5=Sun|first5=Yuqi|last6=Oshima|first6=Motohiko|last7=Tan|first7=Kar Tong|last8=Yang|first8=Henry|last9=Kanai|first9=Akinori|date=2019|title=Lineage-specific RUNX2 super-enhancer activates MYC and promotes the development of blastic plasmacytoid dendritic cell neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30971697|journal=Nature Communications|volume=10|issue=1|pages=1653|doi=10.1038/s41467-019-09710-z|issn=2041-1723|pmc=6458132|pmid=30971697}}</ref><ref name=":5">{{Cite journal|last=Sumarriva Lezama|first=Lhara|last2=Chisholm|first2=Karen M.|last3=Carneal|first3=Eugene|last4=Nagy|first4=Alexandra|last5=Cascio|first5=Michael J.|last6=Yan|first6=Jie|last7=Chang|first7=Chung-Che|last8=Cherry|first8=Athena|last9=George|first9=Tracy I.|date=2018|title=An analysis of blastic plasmacytoid dendritic cell neoplasm with translocations involving the MYC locus identifies t(6;8)(p21;q24) as a recurrent cytogenetic abnormality|url=https://www.ncbi.nlm.nih.gov/pubmed/29884995|journal=Histopathology|volume=73|issue=5|pages=767–776|doi=10.1111/his.13668|issn=1365-2559|pmid=29884995}}</ref><ref name=":6">{{Cite journal|last=Nakamura|first=Y.|last2=Kayano|first2=H.|last3=Kakegawa|first3=E.|last4=Miyazaki|first4=H.|last5=Nagai|first5=T.|last6=Uchida|first6=Y.|last7=Ito|first7=Y.|last8=Wakimoto|first8=N.|last9=Mori|first9=S.|date=2015|title=Identification of SUPT3H as a novel 8q24/MYC partner in blastic plasmacytoid dendritic cell neoplasm with t(6;8)(p21;q24) translocation|url=https://www.ncbi.nlm.nih.gov/pubmed/25860292|journal=Blood Cancer Journal|volume=5|pages=e301|doi=10.1038/bcj.2015.26|issn=2044-5385|pmc=4450326|pmid=25860292}}</ref><ref name=":7">{{Cite journal|last=Sakamoto|first=Kana|last2=Katayama|first2=Ryohei|last3=Asaka|first3=Reimi|last4=Sakata|first4=Seiji|last5=Baba|first5=Satoko|last6=Nakasone|first6=Hideki|last7=Koike|first7=Sumie|last8=Tsuyama|first8=Naoko|last9=Dobashi|first9=Akito|date=2018|title=Recurrent 8q24 rearrangement in blastic plasmacytoid dendritic cell neoplasm: association with immunoblastoid cytomorphology, MYC expression, and drug response|url=https://www.ncbi.nlm.nih.gov/pubmed/29795241|journal=Leukemia|volume=32|issue=12|pages=2590–2603|doi=10.1038/s41375-018-0154-5|issn=1476-5551|pmid=29795241}}</ref><ref name=":8">{{Cite journal|last=Boddu|first=Prajwal C.|last2=Wang|first2=Sa A.|last3=Pemmaraju|first3=Naveen|last4=Tang|first4=Zhenya|last5=Hu|first5=Shimin|last6=Li|first6=Shaoying|last7=Xu|first7=Jie|last8=Medeiros|first8=L. Jeffrey|last9=Tang|first9=Guilin|date=2018|title=8q24/MYC rearrangement is a recurrent cytogenetic abnormality in blastic plasmacytoid dendritic cell neoplasms|url=https://www.ncbi.nlm.nih.gov/pubmed/29407586|journal=Leukemia Research|volume=66|pages=73–78|doi=10.1016/j.leukres.2018.01.013|issn=1873-5835|pmid=29407586}}</ref>. The prevalence of ''MYC'' translocation in BPDCN is 5% -12%<ref name=":5" />. Rearrangements involving the ''MYC'' locus on 8q24 are associated with MYC protein overexpression and specific clinical features, including older onset age and shorter median survival<ref name=":5" />. ''RUNX2'', located on chromosome 6p21, is strongly expressed in pDCs and BPDCN cells. The t(6,8) generates mutant-allele super-enhancer of ''RUNX2'' which may increase the expression of MYC and lead to the development of BPDCN<ref name=":4" />. SUPT3H, a TATA-binding protein-associated factors (TAF)-associated protein, was identified as a novel 8q24/''MYC'' partner in BPDCN<ref name=":6" />.
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<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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* Gene Mutations (SNV/INDEL)}}</blockquote>
* Gene Mutations (SNV/INDEL)}}</blockquote>


*BPDCN is extremely aggressive, with a median survival of 10-19.8 months<ref name=":0" />.
*BPDCN is extremely aggressive, with a median survival of 10-19.8 months<ref name=":0">Fachetti F, et al., (2017). Blastic plasmacytoid dendritic cell neoplasm, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p174-177.</ref>.


*Age is an adverse impact factor for prognosis<ref name=":0" />.
*Age is an adverse impact factor for prognosis<ref name=":0" />.


*Diagnosis is usually established through skin biopsy with immunohistochemistry or flow cytometry<ref name=":3" />.
*Diagnosis is usually established through skin biopsy with immunohistochemistry or flow cytometry<ref name=":3">{{Cite journal|last=Kerr|first=Daniel|last2=Zhang|first2=Ling|last3=Sokol|first3=Lubomir|date=2019|title=Blastic Plasmacytoid Dendritic Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30715612|journal=Current Treatment Options in Oncology|volume=20|issue=1|pages=9|doi=10.1007/s11864-019-0605-x|issn=1534-6277|pmid=30715612}}</ref>.


*Traditional therapeutic approaches include multi-agent chemotherapy, such as CHOP, hyper-CVAD<ref name=":1" /><ref name=":2" /><ref name=":3" />. However, the traditional chemotherapy is associated with high relapse rate and death<ref name=":12">{{Cite journal|last=Pemmaraju|first=Naveen|last2=Lane|first2=Andrew A.|last3=Sweet|first3=Kendra L.|last4=Stein|first4=Anthony S.|last5=Vasu|first5=Sumithira|last6=Blum|first6=William|last7=Rizzieri|first7=David A.|last8=Wang|first8=Eunice S.|last9=Duvic|first9=Madeleine|date=2019|title=Tagraxofusp in Blastic Plasmacytoid Dendritic-Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/31018069|journal=The New England Journal of Medicine|volume=380|issue=17|pages=1628–1637|doi=10.1056/NEJMoa1815105|issn=1533-4406|pmid=31018069}}</ref>.
*Traditional therapeutic approaches include multi-agent chemotherapy, such as CHOP, hyper-CVAD<ref name=":1">{{Cite journal|last=Sapienza|first=Maria Rosaria|last2=Pileri|first2=Alessandro|last3=Derenzini|first3=Enrico|last4=Melle|first4=Federica|last5=Motta|first5=Giovanna|last6=Fiori|first6=Stefano|last7=Calleri|first7=Angelica|last8=Pimpinelli|first8=Nicola|last9=Tabanelli|first9=Valentina|date=2019|title=Blastic Plasmacytoid Dendritic Cell Neoplasm: State of the Art and Prospects|url=https://www.ncbi.nlm.nih.gov/pubmed/31035408|journal=Cancers|volume=11|issue=5|doi=10.3390/cancers11050595|issn=2072-6694|pmc=6562663|pmid=31035408}}</ref><ref name=":2">{{Cite journal|last=Khoury|first=Joseph D.|date=2018|title=Blastic Plasmacytoid Dendritic Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/30350260|journal=Current Hematologic Malignancy Reports|volume=13|issue=6|pages=477–483|doi=10.1007/s11899-018-0489-z|issn=1558-822X|pmid=30350260}}</ref><ref name=":3" />. However, the traditional chemotherapy is associated with high relapse rate and death<ref name=":12">{{Cite journal|last=Pemmaraju|first=Naveen|last2=Lane|first2=Andrew A.|last3=Sweet|first3=Kendra L.|last4=Stein|first4=Anthony S.|last5=Vasu|first5=Sumithira|last6=Blum|first6=William|last7=Rizzieri|first7=David A.|last8=Wang|first8=Eunice S.|last9=Duvic|first9=Madeleine|date=2019|title=Tagraxofusp in Blastic Plasmacytoid Dendritic-Cell Neoplasm|url=https://www.ncbi.nlm.nih.gov/pubmed/31018069|journal=The New England Journal of Medicine|volume=380|issue=17|pages=1628–1637|doi=10.1056/NEJMoa1815105|issn=1533-4406|pmid=31018069}}</ref>.


*A new targeted therapy, Tagraxofusp (SL-401, ELZONRIS) was recently approved.  This agent is a CD123-directed cytotoxin consisting of recombinant human interleukin-3 fused to a truncated diphtheria toxin<ref name=":1" /><ref name=":3" /><ref name=":12" />.
*A new targeted therapy, Tagraxofusp (SL-401, ELZONRIS) was recently approved.  This agent is a CD123-directed cytotoxin consisting of recombinant human interleukin-3 fused to a truncated diphtheria toxin<ref name=":1" /><ref name=":3" /><ref name=":12" />.
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<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
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1).Deletion of the 9p21.3 locus<ref name=":10">{{Cite journal|last=Lezama|first=Lhara|last2=Ohgami|first2=Robert S.|date=2019|title=Expounding on the essence of epigenetic and genetic abnormalities in blastic plasmacytoid dendritic cell neoplasms|url=https://www.ncbi.nlm.nih.gov/pubmed/30930334|journal=Haematologica|volume=104|issue=4|pages=642–643|doi=10.3324/haematol.2018.211557|issn=1592-8721|pmc=6442968|pmid=30930334}}</ref>:
1).Deletion of the 9p21.3 locus<ref name=":10">{{Cite journal|last=Lezama|first=Lhara|last2=Ohgami|first2=Robert S.|date=2019|title=Expounding on the essence of epigenetic and genetic abnormalities in blastic plasmacytoid dendritic cell neoplasms|url=https://www.ncbi.nlm.nih.gov/pubmed/30930334|journal=Haematologica|volume=104|issue=4|pages=642–643|doi=10.3324/haematol.2018.211557|issn=1592-8721|pmc=6442968|pmid=30930334}}</ref>:
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote>


*Chromosomal abnormalities are identified in the majority of BPDCN cases; about two thirds of BPDCN patients have an abnormal karyotype<ref name=":0" />.
*Chromosomal abnormalities are identified in the majority of BPDCN cases; about two thirds of BPDCN patients have an abnormal karyotype<ref name=":0" />.
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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='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>


*Common gene mutations in BPDCN: ''TET2'', ''ASXL1, NRAS, ATM'', and ''NPM1''<ref name=":0" /><ref name=":2" /><ref name=":5" /><ref name=":11">{{Cite journal|last=Sapienza|first=Maria Rosaria|last2=Abate|first2=Francesco|last3=Melle|first3=Federica|last4=Orecchioni|first4=Stefania|last5=Fuligni|first5=Fabio|last6=Etebari|first6=Maryam|last7=Tabanelli|first7=Valentina|last8=Laginestra|first8=Maria Antonella|last9=Pileri|first9=Alessandro|date=2019|title=Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target|url=https://www.ncbi.nlm.nih.gov/pubmed/30381297|journal=Haematologica|volume=104|issue=4|pages=729–737|doi=10.3324/haematol.2018.202093|issn=1592-8721|pmc=6442957|pmid=30381297}}</ref>.
*Common gene mutations in BPDCN: ''TET2'', ''ASXL1, NRAS, ATM'', and ''NPM1''<ref name=":0" /><ref name=":2" /><ref name=":5" /><ref name=":11">{{Cite journal|last=Sapienza|first=Maria Rosaria|last2=Abate|first2=Francesco|last3=Melle|first3=Federica|last4=Orecchioni|first4=Stefania|last5=Fuligni|first5=Fabio|last6=Etebari|first6=Maryam|last7=Tabanelli|first7=Valentina|last8=Laginestra|first8=Maria Antonella|last9=Pileri|first9=Alessandro|date=2019|title=Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target|url=https://www.ncbi.nlm.nih.gov/pubmed/30381297|journal=Haematologica|volume=104|issue=4|pages=729–737|doi=10.3324/haematol.2018.202093|issn=1592-8721|pmc=6442957|pmid=30381297}}</ref>.
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<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>


·        BCL-2 and NF-ĸB pathways<ref name=":10" /><ref>{{Cite journal|last=Chang|first=Kung-Chao|last2=Yu-Yun Lee|first2=Julia|last3=Sakamoto|first3=Kana|last4=Baba|first4=Satoko|last5=Takeuchi|first5=Kengo|date=2019|title=Blastic plasmacytoid dendritic cell neoplasm with immunoblastoid morphology and MYC rearrangement and overexpression|url=https://www.ncbi.nlm.nih.gov/pubmed/30482401|journal=Pathology|volume=51|issue=1|pages=100–102|doi=10.1016/j.pathol.2018.09.058|issn=1465-3931|pmid=30482401}}</ref>
·        BCL-2 and NF-ĸB pathways<ref name=":10" /><ref>{{Cite journal|last=Chang|first=Kung-Chao|last2=Yu-Yun Lee|first2=Julia|last3=Sakamoto|first3=Kana|last4=Baba|first4=Satoko|last5=Takeuchi|first5=Kengo|date=2019|title=Blastic plasmacytoid dendritic cell neoplasm with immunoblastoid morphology and MYC rearrangement and overexpression|url=https://www.ncbi.nlm.nih.gov/pubmed/30482401|journal=Pathology|volume=51|issue=1|pages=100–102|doi=10.1016/j.pathol.2018.09.058|issn=1465-3931|pmid=30482401}}</ref>
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(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />


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==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Blastic plasmacytoid dendritic cell neoplasm”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Blastic_plasmacytoid_dendritic_cell_neoplasm</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Blastic plasmacytoid dendritic cell neoplasm”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Blastic_plasmacytoid_dendritic_cell_neoplasm</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases B]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases B]]
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