KMT2A (MLL)-MLLT1 rearrangement in blastic plasmacytoid dendritic cell neoplasm

Yang, Naery; Huh, Jungwon; Chung, Wha Soon; Cho, Min-Sun; Ryu, Kyung‐Ha; Chung, Hae Sun

doi:10.1016/j.cancergen.2015.04.011

Cited by 23 publications

(15 citation statements)

References 13 publications

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“…In the present case, although flow cytometric analysis on BM aspirate revealed expression of granulocytic makers (CD15 and CD65) and monocytic markers (CD64, CD11c) suggestive of AML, it was the presence of an MLL rearrangement that argues for the final diagnosis of AML. In the literature, only 4 brief communications have reported MLL rearrangement in 4 lesions diagnosed as BPDCN . Nevertheless, 3 of the cases are not well‐documented especially from a phenotypic point of view and the diagnosis of BPDCN may be debated.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous presentation preceding acute myeloid leukemia with CD4+/CD56+ expression misdiagnosed as a blastic plasmocytoid dendritic cell neoplasm: A case report

et al. 2018

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Acute myeloid leukemia (AML) may initially present as cutaneous lesions corresponding to blasts involving the skin as the first clinical manifestation prior to blood and bone marrow (BM) infiltration. Such presentation is known as myeloid leukemia cutis (LC). Blastic plasmocytoid dendritic cell neoplasm (BPDCN) is an aggressive tumor derived from the precursors of plasmocytoid dendritic cells with cutaneous and BM involvement and leukemic dissemination. Myeloid LC and BPDCN may be difficult to distinguish as they share similar clinical and histopathological features, in particular AML with monocytic differentiation. Nevertheless, the correct diagnosis has to be made to determine adequate and effective therapy. Here, we report the case of a 61-year-old woman who presented with an AML with MLL rearrangement and CD4+/CD56+ expression presenting as LC and that was misdiagnosed as BPDCN. We emphasize that careful and exhaustive analyses should be performed to make the correct diagnosis.

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Section: Discussionmentioning

confidence: 99%

Cutaneous presentation preceding acute myeloid leukemia with CD4+/CD56+ expression misdiagnosed as a blastic plasmocytoid dendritic cell neoplasm: A case report

et al. 2018

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“…Yang et al [32] reported a pediatric case with an MLL-MLLT1 rearrangement associated with a complex karyotype shown using FISH. Three additional BPDCN cases with an 11q23 abnormality were also reported, including a t(9; 11) (p21; q23) translocation and an 11q23 deletion [2,52].…”

Section: Cytogeneticsmentioning

confidence: 99%

“…BPDCN represents .27% of cases of all hematological malignancies and less than 1% of acute leukemia cases [2,10]. BPDCN generally occurs in the elderly, with the median age in the sixth decade [3,7], although a few pediatric and infant cases have also been reported [3,7,28,32]. It mostly occurs in men (male to female ratio, 3:1).…”

Section: Epidemiologymentioning

confidence: 99%

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Blastic Plasmacytoid Dendritic Cell Neoplasm: From Origin of the Cell to Targeted Therapies

Laribi

Denizon

Besançon

et al. 2016

Biology of Blood and Marrow Transplantation

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy with an aggressive clinical course. It is grouped with acute myeloid leukemia-related precursor neoplasms in the 2008 World Health Organization classification. Most patients with BPDCN have skin lesions at diagnosis and subsequent or simultaneous involvement of the bone marrow, peripheral blood, and lymph nodes. Patients usually respond to initial chemotherapy but often relapse. Stem cell transplantation may improve survival. This neoplasm is derived from precursors of plasmacytoid dendritic cells and is characterized by the coexpression of the immunophenotypic markers CD4, CD56, CD123, blood dendritic cell antigen-2, blood dendritic cell antigen-4, CD2AP, and lineage(-). Atypical immunophenotype expression may be present, making diagnosis difficult. BPDCN is often associated with a complex karyotype, frequent deletions of tumor suppressor genes, and mutations affecting either the DNA methylation or chromatin remodeling pathways. A better understanding of the etiology and pathophysiology of this neoplasm could open the way to new therapies targeting specific signaling pathways or involving epigenetics.

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“…So far, three cases of CD4+/CD56+ hematologic malignancies with MLL rearrangements have been reported as rare cases of BPDCN with MLL rearrangement ( Table 1 ). The leukemic cells reported in the literature expressed the myeloid and monocytic markers CD33, CD117, CD11c, CD15, or CD64, which were not specific enough to identify a specific lineage [ 3 4 5 ]. These three cases did not express highly specific plasmacytoid dendritic cell-associated antigens, such as CD123, TCL1, CD2AP, or CD303 (BDCA2); therefore, additional immunohistochemical studies were necessary at their diagnosis.…”

mentioning

confidence: 99%

Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports

et al. 2016

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KMT2A (MLL)-MLLT1 rearrangement in blastic plasmacytoid dendritic cell neoplasm

Cited by 23 publications

References 13 publications

Cutaneous presentation preceding acute myeloid leukemia with CD4+/CD56+ expression misdiagnosed as a blastic plasmocytoid dendritic cell neoplasm: A case report

Cutaneous presentation preceding acute myeloid leukemia with CD4+/CD56+ expression misdiagnosed as a blastic plasmocytoid dendritic cell neoplasm: A case report

Blastic Plasmacytoid Dendritic Cell Neoplasm: From Origin of the Cell to Targeted Therapies

Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports

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