ABSTRACT
We present a cohort of 22 patients with type 2 dendritic cell (DC2) acute leukemia (or blastic plasmacytoid dendritic cell neoplasm-BPDCN, as it has been recently named), diagnosed in Greece over the past 12-year period, according to the main clinical and immunophenotypic features of this entity. Four additional cases are discussed, classified as leukemia of ambiguous lineage (LAL), because of the simultaneous detection of a CD56 negative DC2 population and of a second myeloid precursor cell population. The morphological features and cytogenetic findings of the typical BPDCN cases were similar to those previously described. Acute lymphoblastic leukemia-type chemotherapeutic regimens were more efficient in controlling the disease. Immunophenotyping of typical BPDCN cases revealed CD4(+), CD56(+), HLA-DR(+) and CD123(bright) neoplastic cells, in the absence of major B-, T- and myeloid-associated markers, while the phenotype of the four cases characterized as LAL highlights the risk of misdiagnosis. Based on our experience, we propose a flow cytometric algorithmic approach for the distinction of typical BPDCN from certain types of acute myeloid leukemia, but also for the identification of acute myeloid leukemia, admixed with CD56 negative DC2 cells, which could be misdiagnosed as BPDCN.
Subject(s)
Dendritic Cells/pathology , Leukemia/diagnosis , Acute Disease , Adolescent , Adult , Aged , Aged, 80 and over , Cytogenetic Analysis , Diagnosis, Differential , Female , Greece , Humans , Immunophenotyping/methods , Leukemia/genetics , Leukemia/immunology , Leukemia/pathology , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/immunology , Male , Middle Aged , Skin Neoplasms/diagnosis , Skin Neoplasms/genetics , Skin Neoplasms/immunology , Skin Neoplasms/pathologyABSTRACT
The role of computed tomography (CT) scanning in a case of Yersinia enterocolitica (YE) enteritis mimicking acute appendicitis in a 34-year-old female patient with beta-thalassemia major is presented. Although the abdominal CT findings on admittance were indicative of acute appendicitis (enlargement of the appendix and thickening of its wall), making appendectomy a likely treatment option, a second CT scan 3 days later was diagnostic for infectious colitis (bowel wall thickening, ulcerations of the colonic mucosa, and fat stranding), and an unnecessary appendectomy was thus avoided. The diagnosis of YE colitis was later confirmed by serology tests.
Subject(s)
Appendicitis/diagnostic imaging , Colitis/diagnostic imaging , Tomography, X-Ray Computed , Yersinia Infections/diagnostic imaging , Yersinia enterocolitica , beta-Thalassemia/complications , Acute Disease , Adult , Colitis/complications , Colitis/microbiology , Diagnosis, Differential , Emergencies , Female , Humans , Pelvis/diagnostic imaging , Radiography, Abdominal , Yersinia Infections/complicationsABSTRACT
Immunoglobulin kappa (IGK) and immunoglobulin lambda (IGL) light chain repertoire was analyzed in 276 chronic lymphocytic leukemia (CLL) cases and compared with the relevant repertoires from normal, autoreactive, and neoplastic cells. Twenty-one functional IGKV genes were used in IGKV-J rearrangements of 179 kappa-CLL cases; the most frequent genes were IGKV3-20(A27), IGKV1-39/1D-39(O2/O12), IGKV1-5(L12), IGKV4-1(B3), and IGKV2-30(A17); 90 (50.3%) of 179 IGK sequences were mutated (similarity < 98%). Twenty functional IGLV genes were used in IGLV-J rearrangements of 97 lambda-CLL cases; the most frequent genes were IGLV3-21(VL2-14), IGLV2-8(VL1-2), and IGLV2-14(VL1-4); 44 of 97 IGL sequences (45.4%) were mutated. Subsets with "CLL-biased" homologous complementarity-determining region 3 (CDR3) were identified: (1) IGKV2-30-IGKJ2, 7 sequences with homologous kappa CDR3 (KCDR3), 5 of 7 associated with homologous IGHV4-34 heavy chains; (2) IGKV1-39/1D-39-IGKJ1/4, 4 unmutated sequences with homologous KCDR3, 2 of 4 associated with homologous IGHV4-39 heavy chains; (3) IGKV1-5-IGKJ1/3, 4 sequences with homologous KCDR3, 2 of 4 associated with unmutated nonhomologous IGHV4-39 heavy chains; (4) IGLV1-44-IGLJ2/3, 2 sequences with homologous lambda CDR3 (LCDR3), associated with homologous IGHV4-b heavy chains; and (5) IGLV3-21-IGLJ2/3, 9 sequences with homologous LCDR3, 3 of 9 associated with homologous IGHV3-21 heavy chains. The existence of subsets that comprise given IGKV-J/IGLV-J domains associated with IGHV-D-J domains that display homologous CDR3 provides further evidence for the role of antigen in CLL pathogenesis.
