Co-occurrence of CALR and MPL somatic mutations in an Indian patient with a Philadelphia-negative myeloproliferative neoplasm
AbstractPhiladelphia-negative myeloproliferative neoplasms (MPNs) are a group of clonal disorders that are characterized by excessive proliferation of abnormal myeloid precursors and mature cells. Somatic driver mutations in theJAK2,CALR, andMPL genes serve as major diagnostic criteria in the classification of the MPNs, namely polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Although initially thought to be mutually exclusive, recent studies have reported the co-existence ofJAK2,MPL, andCALR mutations. In this case report, we describe a case of a Philadelphia-negative myeloproliferat...
Source: Journal of Hematopathology - June 7, 2019 Category: Pathology Source Type: research
Comparison of clinical diagnoses and autopsy findings in 54 cases with lymphoid neoplasms
This study shows the high rate of autopsy-verified lymphoid neoplasms and unrecognised co-morbidities. (Source: Journal of Hematopathology)
Source: Journal of Hematopathology - May 20, 2019 Category: Pathology Source Type: research
Primary plasma cell leukaemia in a 20-year young adult male: a rare presentation
(Source: Journal of Hematopathology)
Source: Journal of Hematopathology - May 19, 2019 Category: Pathology Source Type: research
Advancing diagnostic hematopathology: pigeons or pixels?
(Source: Journal of Hematopathology)
Source: Journal of Hematopathology - May 17, 2019 Category: Pathology Source Type: research
Bone marrow fibrosis as prognostic marker in adult patients with acute lymphoblastic leukemia
AbstractThe role of bone marrow (BM) fibrosis on outcomes of children with acute lymphoblastic leukemia (ALL) has been described with inconsistent results. In adults, there is no information regarding its significance. The aim of this study was to describe the prognostic impact of BM fibrosis in this group of patients. We included 88 biopsies of 44 adult patients. Reticulin and Masson trichrome stains were performed. Fibrosis was graded by modified Bauermeister scale and volume of reticulin/collagen fibers, both methods had good correlation. Survival analyses were performed regarding (1) the presence or not of significant ...
Source: Journal of Hematopathology - May 8, 2019 Category: Pathology Source Type: research
Characterization of a cryptic KMT2A/AFF1 gene fusion by mate-pair sequencing (MPseq) in a young adult with newly diagnosed B-lymphoblastic leukemia
We present a newly diagnosed case of B-ALL in a young adult with a crypticKMT2A/AFF1 fusion that was unappreciable by conventional chromosome and fluorescence in situ hybridization (FISH)KMT2A break-apart probe studies. To further characterize this abnormality, a next-generation sequencing strategy, mate-pair sequencing (MPseq) was performed and characterized a cryptic, insertional rearrangement that createdKMT2A/AFF1 gene fusion. This case highlights the superior precision and resolution capabilities of NGS when compared to traditional cytogenetic methodologies, including conventional chromosome and FISH studies. (Source:...
Source: Journal of Hematopathology - May 2, 2019 Category: Pathology Source Type: research
Human endogenous retrovirus, HERV-P and HERV-R in pediatric leukemia patients
AbstractThe “HERVs” (human endogenous retroviruses) are a family of endogenous retroviruses integrated into the germ cell DNA of primate over than 30 million years ago. HERV expression seems impaired in several diseases, ranging from autoimmune to neoplastic disorders. The purpose of this study was to evalu ate the overall endogenous retroviral transcription profile in bone marrow (BM) samples. A total of 30 pediatric lymphoid and myeloid malignancies patients were tested. Our findings show that HERV-R expression results significantly higher in leukemia patients than donors. This overexpression might b e related to lym...
Source: Journal of Hematopathology - May 2, 2019 Category: Pathology Source Type: research
Leishmania interaction with an osteoclast
AbstractVisceral leishmaniasis is caused by an intracellular protozoan parasite, Leishmania donovani. Frequently, a bone marrow aspirate can confirm the diagnosis by showing intracellular forms of Leishmania amastigotes in macrophages. Here we present a unusual interaction of Leishmania with an osteoclast in the bone marrow. (Source: Journal of Hematopathology)
Source: Journal of Hematopathology - April 30, 2019 Category: Pathology Source Type: research
Evaluation of S1PR1, pSTAT3, S1PR2, and FOXP1 expression in aggressive, mature B cell lymphomas
AbstractAggressive, mature B cell lymphomas include Burkitt lymphoma (BL); high-grade B cell lymphomas (HGBL) (e.g., double-hit B cell lymphomas (HGBL-DH: HGBL with MYC and BCL2 and/or BCL6 translocations)); HGBL, not otherwise specified (HGBL, NOS); and diffuse large B cell lymphoma (DLBCL). Overlapping morphologic and immunohistochemical features of these lymphomas pose diagnostic challenges in some cases, and better understanding of potential diagnostic biomarkers and possible therapeutic targets is needed. Sphingosine 1 phosphate receptors (S1PR1-5) are G protein-coupled receptors that bind S1P and influence migration ...
Source: Journal of Hematopathology - April 26, 2019 Category: Pathology Source Type: research
Biclonal splenic marginal zone lymphoma with T cell-rich background and aggressive transformation to large cell lymphoma
We report a case of biclonal splenic MZL, T cell-rich variant with an abnormal karyotype that progressed to large B cell lymphoma. A 74-year-old female presented with pancytopenia, weight loss, fever, and splenomegaly. Microscopically, the spleen revealed an extensive, vaguely nodular lymphoid proliferation, composed of small lymphocytes, majority of which were reactive T cells. B cells were mostly small and< 5% of total lymphocytes. Focal follicular dendritic cell networks were present, but germinal centers were absent. Flow cytometric analysis revealed two distinct CD5 and CD10 negative B cell clones, one kappa pos...
Source: Journal of Hematopathology - April 4, 2019 Category: Pathology Source Type: research
Therapeutic targets and microenvironment in sequential biopsies of classical Hodgkin lymphoma at diagnosis and relapse
AbstractClassical Hodgkin lymphoma is dominated by the non-neoplastic microenvironment, while the neoplastic Hodgkin-Reed-Sternberg cells compose only a minority of cells in the lymphoma tissue. Both the Hodgkin-Reed-Sternberg cells due to their expression of CD30 and PD-L1 and the microenvironment with abundant T cells and expression of PD1 are specifically targeted by new treatment concepts. We aimed to understand the dynamics of therapeutic targets in patients treated with conventional chemotherapy. We analyzed sequential biopsy specimens obtained at diagnosis and at relapse from the same patient for morphology, immunop...
Source: Journal of Hematopathology - March 10, 2019 Category: Pathology Source Type: research
Keeping tabs on the mabs: a hematopathologist ’s dilemma
(Source: Journal of Hematopathology)
Source: Journal of Hematopathology - February 22, 2019 Category: Pathology Source Type: research
Characterization of a t(1;2)(p36;p21) involving the PRDM16 gene region by mate-pair sequencing (MPseq) in a patient with newly diagnosed acute myeloid leukemia with myelodysplasia-related changes
We describe the first case to our knowledge of t(1;2)(p36;p21) observed in AML-MRC. In addition, a next-generation sequencing strategy, mate-pair sequencing (MPseq) was performed and revealed the promoter 2 region ofTHADA (2p21) was juxtaposed upstream fromPRDM16 which may be responsible forPRDM16 overexpression that has been reported in hematologic neoplasms harboring the t(1;2)(p36;p21). (Source: Journal of Hematopathology)
Source: Journal of Hematopathology - February 21, 2019 Category: Pathology Source Type: research
Reviewers for Journal of Hematopathology in 2018
(Source: Journal of Hematopathology)
Source: Journal of Hematopathology - February 20, 2019 Category: Pathology Source Type: research
Incorporation of digital gene expression profiling for cell-of-origin determination (Lymph2Cx testing) into the routine work-up of diffuse large B cell lymphoma
AbstractDiffuse large B cell lymphomas (DLBCL) represent a clinically heterogeneous group of lymphomas that are classified together based on similarities in morphology and immunophenotype. Gene expression profiling further classifies DLBCL into distinct molecular subgroups based on cell-of-origin (COO), including germinal center B cell type, activated B cell type, and unclassified type. COO assignment of DLBCL has important biological and prognostic significance, as well as emerging therapeutic implications. Herein, we describe the first clinical validation of a digital gene expression-profiling assay (Lymph2Cx) to perform...
Source: Journal of Hematopathology - February 14, 2019 Category: Pathology Source Type: research
