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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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Dear Editor, Blastic plasmacytoid dendritic cell neoplasm (BPDCN), characterized by co-expression of CD4 and CD56 without any other lineage-specific markers, is an aggressive tumor type that shows a high frequency of skin involvement and nodal or marrow infiltration with a propensity toward leukemic dissemination .This disease was formerly defined by the World Health Organization as blastic NK-cell lymphoma, and was later grouped with AML and related precursor neoplasms... Multiplex, nested reverse transcription (RT)-PCR was performed for screening and detection of 28 chromosomal translocations using the HemaVision kit (DNA Technology, Research Park, Aarhus, Denmark), and the presence of MLL-MLLT10 rearrangement was demonstrated... It was confirmed by direct sequencing (Fig. 1D)... Although adequate lineage-specific markers were not observed, she was diagnosed as having an AML with MLL rearrangement in bone marrow and lymph nodes... 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... 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... Variable expression of CD4 or CD56 in adult AML cases with MLL rearrangement has been reported, and BPDCN is often confused with monocytic leukemias... Based on the limited information on immunophenotypes of these cases, MLL-related monocytic leukemia would be a reasonable diagnosis (Table 1)... This study emphasizes that the diagnosis of BPDCN should only be considered after a full investigation of plasmacytoid dendritic cell markers, ensuring there is no expression of myeloid or monocytic markers on the blasts... Since hematologic neoplasms such as BPDCN, AML, extranodal NK/T cell lymphoma, nasal type, and mature T cell lymphomas with or without skin involvement may express CD56 with or without CD4, extensive immunohistochemical and genetic analyses are necessary before definitively diagnosing BPDCN or AML... In conclusion, CD4+/CD56+ hematologic malignancies can be suspected to be BPDCN, and clinicians should conduct a full analysis including flow cytometry for adequate myeloid/monocytic markers, immunohistochemical stain for highly specific plasmacytoid dendritic cell-associated antigens, cytogenetic, and genetic studies to make an exact diagnosis and determine effective treatment.

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Morphological features, flow cytometric analysis, immunohistochemical stain, and genetic study of the two cases of CD4+/CD56+AML. (A) Plasmoblast-like neoplastic cells in the first case (Wright Giemsa stain, 400×, Bone marrow); (B) Immunophenotyping features with CD56 and CD4 coexpression in the first case; (C) Skin biopsy showing diffuse infiltration of medium- to large-sized agranular blastic cells into the dermis in the first case (Hematoxylin and Eosin stain, 100×, Skin lesion); (D) The MLL-MLLT10 rearrangement confirmed by direct sequencing in the first case; (E) Plasmacytoid cells in the second case (Wright Giemsa stain; ×400, Bone marrow); and (F) The immunophenotyping features with CD4 and CD56 coexpression in the second case.
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Figure 1: Morphological features, flow cytometric analysis, immunohistochemical stain, and genetic study of the two cases of CD4+/CD56+AML. (A) Plasmoblast-like neoplastic cells in the first case (Wright Giemsa stain, 400×, Bone marrow); (B) Immunophenotyping features with CD56 and CD4 coexpression in the first case; (C) Skin biopsy showing diffuse infiltration of medium- to large-sized agranular blastic cells into the dermis in the first case (Hematoxylin and Eosin stain, 100×, Skin lesion); (D) The MLL-MLLT10 rearrangement confirmed by direct sequencing in the first case; (E) Plasmacytoid cells in the second case (Wright Giemsa stain; ×400, Bone marrow); and (F) The immunophenotyping features with CD4 and CD56 coexpression in the second case.

Mentions: A 59-yr-old man presented with erythematous papules and vesicles on his whole body for one week. Complete blood counts showed anemia (Hb, 80 g/L), thrombocytopenia (62×109 platelets/L), and many circulating plasmoblast-like cells (65%). Bone marrow examination showed hypercellular marrow (90%) mostly composed of plasmoblast-like cells with coarse nuclear chromatin, distinct nucleoli, and abundant basophilic cytoplasm (Fig. 1A). Flow cytometry revealed that the neoplastic cells were positive for CD4, CD33, CD38, CD56, CD117, and CD138 (Fig. 1B), and negative for other myeloid or lymphoid markers (Table 1). Skin lesions showed diffuse infiltration of medium- to large-sized agranular blastic cells with CD4 and CD56 co-expression (Fig. 1C). Bone marrow and skin were negative for CD123 immunohistochemical stain. The chromosome study revealed 45,X,-Y[9]/46,XY[11] without 11q23 abnormalities. Multiplex, nested reverse transcription (RT)-PCR was performed for screening and detection of 28 chromosomal translocations using the HemaVision kit (DNA Technology, Research Park, Aarhus, Denmark), and the presence of MLL-MLLT10 rearrangement was demonstrated. It was confirmed by direct sequencing (Fig. 1D). Fluorescence in situ hybridization for MLL rearrangement revealed nuc ish(5'MLLx3,3'MLLx2)(5'MLL con 3'MLLx2)[170/200], suggesting the presence of an atypical MLL breakpoint. Although the lineage antigens expressed here were not specific to AML, he was diagnosed as having AML with MLL rearrangement in bone marrow and skin.


Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports
Morphological features, flow cytometric analysis, immunohistochemical stain, and genetic study of the two cases of CD4+/CD56+AML. (A) Plasmoblast-like neoplastic cells in the first case (Wright Giemsa stain, 400×, Bone marrow); (B) Immunophenotyping features with CD56 and CD4 coexpression in the first case; (C) Skin biopsy showing diffuse infiltration of medium- to large-sized agranular blastic cells into the dermis in the first case (Hematoxylin and Eosin stain, 100×, Skin lesion); (D) The MLL-MLLT10 rearrangement confirmed by direct sequencing in the first case; (E) Plasmacytoid cells in the second case (Wright Giemsa stain; ×400, Bone marrow); and (F) The immunophenotyping features with CD4 and CD56 coexpression in the second case.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4940495&req=5

Figure 1: Morphological features, flow cytometric analysis, immunohistochemical stain, and genetic study of the two cases of CD4+/CD56+AML. (A) Plasmoblast-like neoplastic cells in the first case (Wright Giemsa stain, 400×, Bone marrow); (B) Immunophenotyping features with CD56 and CD4 coexpression in the first case; (C) Skin biopsy showing diffuse infiltration of medium- to large-sized agranular blastic cells into the dermis in the first case (Hematoxylin and Eosin stain, 100×, Skin lesion); (D) The MLL-MLLT10 rearrangement confirmed by direct sequencing in the first case; (E) Plasmacytoid cells in the second case (Wright Giemsa stain; ×400, Bone marrow); and (F) The immunophenotyping features with CD4 and CD56 coexpression in the second case.
Mentions: A 59-yr-old man presented with erythematous papules and vesicles on his whole body for one week. Complete blood counts showed anemia (Hb, 80 g/L), thrombocytopenia (62×109 platelets/L), and many circulating plasmoblast-like cells (65%). Bone marrow examination showed hypercellular marrow (90%) mostly composed of plasmoblast-like cells with coarse nuclear chromatin, distinct nucleoli, and abundant basophilic cytoplasm (Fig. 1A). Flow cytometry revealed that the neoplastic cells were positive for CD4, CD33, CD38, CD56, CD117, and CD138 (Fig. 1B), and negative for other myeloid or lymphoid markers (Table 1). Skin lesions showed diffuse infiltration of medium- to large-sized agranular blastic cells with CD4 and CD56 co-expression (Fig. 1C). Bone marrow and skin were negative for CD123 immunohistochemical stain. The chromosome study revealed 45,X,-Y[9]/46,XY[11] without 11q23 abnormalities. Multiplex, nested reverse transcription (RT)-PCR was performed for screening and detection of 28 chromosomal translocations using the HemaVision kit (DNA Technology, Research Park, Aarhus, Denmark), and the presence of MLL-MLLT10 rearrangement was demonstrated. It was confirmed by direct sequencing (Fig. 1D). Fluorescence in situ hybridization for MLL rearrangement revealed nuc ish(5'MLLx3,3'MLLx2)(5'MLL con 3'MLLx2)[170/200], suggesting the presence of an atypical MLL breakpoint. Although the lineage antigens expressed here were not specific to AML, he was diagnosed as having AML with MLL rearrangement in bone marrow and skin.

View Article: PubMed Central - PubMed

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Dear Editor, Blastic plasmacytoid dendritic cell neoplasm (BPDCN), characterized by co-expression of CD4 and CD56 without any other lineage-specific markers, is an aggressive tumor type that shows a high frequency of skin involvement and nodal or marrow infiltration with a propensity toward leukemic dissemination .This disease was formerly defined by the World Health Organization as blastic NK-cell lymphoma, and was later grouped with AML and related precursor neoplasms... Multiplex, nested reverse transcription (RT)-PCR was performed for screening and detection of 28 chromosomal translocations using the HemaVision kit (DNA Technology, Research Park, Aarhus, Denmark), and the presence of MLL-MLLT10 rearrangement was demonstrated... It was confirmed by direct sequencing (Fig. 1D)... Although adequate lineage-specific markers were not observed, she was diagnosed as having an AML with MLL rearrangement in bone marrow and lymph nodes... 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... 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... Variable expression of CD4 or CD56 in adult AML cases with MLL rearrangement has been reported, and BPDCN is often confused with monocytic leukemias... Based on the limited information on immunophenotypes of these cases, MLL-related monocytic leukemia would be a reasonable diagnosis (Table 1)... This study emphasizes that the diagnosis of BPDCN should only be considered after a full investigation of plasmacytoid dendritic cell markers, ensuring there is no expression of myeloid or monocytic markers on the blasts... Since hematologic neoplasms such as BPDCN, AML, extranodal NK/T cell lymphoma, nasal type, and mature T cell lymphomas with or without skin involvement may express CD56 with or without CD4, extensive immunohistochemical and genetic analyses are necessary before definitively diagnosing BPDCN or AML... In conclusion, CD4+/CD56+ hematologic malignancies can be suspected to be BPDCN, and clinicians should conduct a full analysis including flow cytometry for adequate myeloid/monocytic markers, immunohistochemical stain for highly specific plasmacytoid dendritic cell-associated antigens, cytogenetic, and genetic studies to make an exact diagnosis and determine effective treatment.

No MeSH data available.


Related in: MedlinePlus