CD4-Negative Variant of Cutaneous Blastic Plasmacytoid Dendritic Cell Neoplasm with a Novel PBRM1 Mutation in an 11-Year-Old Girl
American Journal of Clinical Pathology, cilt.147, sa.5, ss.453-460, 2017 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 147 Sayı: 5
- Basım Tarihi: 2017
- Doi Numarası: 10.1093/ajcp/aqx012
- Dergi Adı: American Journal of Clinical Pathology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.453-460
- Anahtar Kelimeler: Blastic plasmacytoid dendritic cell neoplasm, PBRM1 gene mutation, Acute leukemia, Neoplasms in childhood
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objectives: We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. Methods: An 11-year-old girl presented with an enlarged mass on her left arm and underwent an incisional biopsy. Results: Histopathologic examination and immunohistochemistry studies showed a monotonous proliferation of blasts that were CD4-, CD56+, and CD123+. There was no evidence of leukemic dissemination. Next-generation sequencing detected PBRM1 and CIC gene abnormalities. We confirmed and validated a novel PBRM1 mutation by conventional polymerase chain reaction and Sanger sequencing. Conclusions: CD4- variant of BPDCN may be mistaken for myeloid sarcoma or extramedullary lymphoblastic leukemia/lymphoma because of their overlapping morphologic and immunophenotypic features; thus, a careful clinicopathologic evaluation is essential to reach the correct diagnosis. PBRM1 mutation seems to be a driver event in this case. Our study underscores the importance of alterations in chromatin remodeling in the pathogenesis of BPDCN.