scholarly journals A Case of Untreated Myeloid Sarcoma of the Pancreas Head Region: Diagnostic Process of AML Subtyping in an Autoptic Case

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Yuki Fukumura ◽  
Gentaro Taniguchi ◽  
Ai Koyanagi ◽  
Yuki Horiuchi ◽  
Tomonori Ochiai ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Hematologic Malignancy ◽  
Myeloid Sarcoma ◽  
Diagnostic Process ◽  
Monocyte Subset ◽  
Head Region ◽  
Aberrant Expression ◽  
Diffuse Infiltration ◽  
Pancreas Head

This study describes an autopsy case of pancreatic/peripancreatic myeloid sarcoma in a 70-year-old man, initially presenting with obstructive jaundice. Pathologically, diffuse infiltration of round cells containing atypical nuclei with marked cleavage was observed mainly in the pancreas head, peripancreatic lymph nodes, spleen, bilateral lung, and bone marrow. Immunohistochemically, the tumor cells were negative for CD20, CD79a, CD3, CD5, c-kit, CD34, and TdT and positive for myeloperoxidase, CD33, CD68, and CD163. Flow cytometry of the peripheral blood showed underexpression of CD11c and aberrant expression of CD56 in the monocyte subset. The peripheral blood smear showed an increase in monocytes and atypia in neutrophils and monocytes, as well as enlarged platelets and polychromatic erythroblasts. Hence, it was suggested that the myeloid sarcoma was derived from the acute transformation of chronic myelomonocytic leukemia. Myeloid sarcoma is an extramedullary-mass-forming hematologic malignancy that is difficult to diagnose, especially when the initial presentation is a pancreatic mass. However, early diagnosis is important for appropriate therapy. Although bone marrow examination could not be performed because of the patients’ severe condition, the pathological specimen obtained with autopsy helped subtype the patient’s leukemia. The immunohistochemical features of this case merit attention.

Immunophenotypic Study of Basophils by Multiparameter Flow Cytometry

2008 ◽  
Vol 132 (5) ◽  
pp. 813-819
Author(s):  
Xiaohong Han ◽  
Jeffrey L. Jorgensen ◽  
Archana Brahmandam ◽  
Ellen Schlette ◽  
Yang O. Huh ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Flow Cytometry ◽  
Chronic Myelogenous Leukemia ◽  
Peripheral Blood ◽  
Myelogenous Leukemia ◽  
Multiparameter Flow Cytometry ◽  
Color Flow ◽  
Aberrant Expression ◽  
Flow Cytometric ◽  
Hla Dr

Abstract Context.—The immunophenotypic profile of basophils is not yet fully established, and the immunophenotypic changes in chronic myelogenous leukemia are not fully characterized. Objective.—To establish a comprehensive immunophenotypic spectrum of normal basophils and to assess the range of immunophenotypic aberrations of basophils in chronic myelogenous leukemia. Design.—Using 4-color flow cytometry, we compared the immunophenotypic profile of basophils in peripheral blood or bone marrow samples from 20 patients with no evidence of neoplasia to basophils from 15 patients with chronic myelogenous leukemia. Results.—Basophils in control cases were all positive for CD9, CD13, CD22, CD25 (dim), CD33, CD36, CD38 (bright), CD45 (dimmer than lymphocytes and brighter than myeloblasts), and CD123 (bright), and were negative for CD19, CD34, CD64, CD117, and HLA-DR. Basophils in all chronic myelogenous leukemia patients possessed 1 to 5 immunophenotypic aberrancies. The most common aberrancies were underexpression of CD38, followed by aberrant expression of CD64 and underexpression of CD123. CD34 and CD117 were present in cases with basophilic precursors. Myeloblasts showed a distinct immunophenotypic profile, as they typically expressed CD34 and CD117, showed dimmer expression (compared with basophils) of CD38, CD45, and CD123, and lacked expression of CD22. Conclusions.—Flow cytometric immunophenotyping can identify immunophenotypic aberrations of basophils in chronic myelogenous leukemia, and discriminate basophils from myeloblasts.

scholarly journals Features of non-activation dendritic state and immune deficiency in blastic plasmacytoid dendritic cell neoplasm (BPDCN)

2019 ◽  
Vol 9 (12) ◽  
Author(s):  
Hannah C. Beird ◽  
Maliha Khan ◽  
Feng Wang ◽  
Mansour Alfayez ◽  
Tianyu Cai ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Dendritic Cell ◽  
Peripheral Blood ◽  
Profile Analysis ◽  
Hematologic Malignancy ◽  
Plasmacytoid Dendritic Cell ◽  
Serum Samples ◽  
Molecular Features ◽  
Cell Neoplasm ◽  
Poor Outcomes

AbstractBlastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, male-predominant hematologic malignancy with poor outcomes and with just one recently approved agent (tagraxofusp). It is characterized by the abnormal proliferation of precursor plasmacytoid dendritic cells (pDCs) with morphologic and molecular similarities to acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS)/chronic myelomonocytic leukemia (CMML) in its presentation within the bone marrow and peripheral blood. To identify disease-specific molecular features of BPDCN, we profiled the bone marrow, peripheral blood, and serum samples from primary patient samples using an in-house hematologic malignancy panel (“T300” panel), transcriptome microarray, and serum multiplex immunoassays. TET2 mutations (5/8, 63%) were the most prevalent in our cohort. Using the transcriptome microarray, genes specific to pDCs (LAMP5, CCDC50) were more highly expressed in BPDCN than in AML specimens. Finally, the serum cytokine profile analysis showed significantly elevated levels of eosinophil chemoattractants eotaxin and RANTES in BPDCN as compared with AML. Along with the high levels of PTPRS and dendritic nature of the tumor cells, these findings suggest a possible pre-inflammatory context of this disease, in which BPDCN features nonactivated pDCs.

CML Shows Characteristic Pattern by Flow Cytometry Analysis of Peripheral Blood

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4430-4430
Author(s):  
Kalley Scott ◽  
Wojciech Gorczyca
Keyword(s):  
Bone Marrow ◽  
Flow Cytometry ◽  
Peripheral Blood ◽  
Conflicts Of Interest ◽  
Blast Crisis ◽  
Characteristic Pattern ◽  
Differential Count ◽  
Aberrant Expression ◽  
Chromosomal Changes ◽  
Wbc Count

Abstract Abstract 4430 A total of 75 chronic myeloid leukemia (CML) cases from peripheral blood (40 cases) and bone marrow (BM, 35 cases) with adequate flow cytometry (FC) data, smear, blood cell count, and the presence of t(9;22)/BCR-ABL by fluorescence in-situ hybridization (FISH) studies were analyzed for immunophenotypic pattern. The FC pattern in CML was compared with benign (healthy) controls (blood, 20 cases; BM, 20 cases), blood with reactive neutrophilia (15 cases), myelodysplastic syndrome (BM, 15 cases), and blood with eosinophilia (15 cases). CML showed a characteristic pattern by FC in blood, which can be easily differentiated from reactive neutrophilia or eosinophilia, regardless of WBC count. The identification of distinct population of blasts, basophilia, lack of CD10, CD11b, CD13 and/or CD16 on subset of granulocytes, decreased granularity, and/or aberrant expression of CD56 on granulocytes and monocytes, can be easily identified by routine FC analysis. We suggest using FC analysis of blood as a screening tool for patients with leukocytosis (neutrophilia) with follow-up FISH studies in cases with the phenotypic features suggestive of CML. Patients with confirmed CML diagnosis by FISH will undergo marrow biopsy for differential count including blast and basophil enumeration (to exclude accelerated phase or blast crisis), degree of reticulin fibrosis and cytogenetic studies (for additional chromosomal changes present at diagnosis). This approach, in our opinion, allows to diagnose early (unsuspected) CML and eliminates the need for unnecessary cytogenetic/FISH testing, and especially bone marrow biopsy in patients with reactive leukocytosis or eosinophilia. Disclosures: No relevant conflicts of interest to declare.

scholarly journals SLAMF7high CD16negative Monocytes Increase in Peripheral Blood of Patients with Myelofibrosis in Correlation with JAK2V617F Mutation

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4330-4330
Author(s):  
Takaaki Maekawa ◽  
Shoichiro Kato ◽  
Yosuke Okada ◽  
Noriaki Tachi ◽  
Masahiro Teramoto ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Biopsy ◽  
Peripheral Blood ◽  
Research Funding ◽  
Myeloproliferative Neoplasm ◽  
Receptor Activation ◽  
Genetic Mutation ◽  
Monocyte Subset ◽  
Allele Burden ◽  
Jak2v617f Allele Burden

Abstract Introduction Myelofibrosis (MF) occurrence can be attributed to various pathogenic mechanisms. A recent study showed that the neoplastic clone of fibrocytes (spindle shaped, fibroblast-like blood cells derived from monocyte lineage) was essential in primary MF pathogenesis; moreover, serum amyloid P (PRM-151), which suppresses fibrocyte differentiation, markedly improved survival and MF in a murine xenograft model (J Exp Med 2016; 213: 1723). Using a romiplostim-induced murine MF model, direct induction of fibrocyte differentiation using TPO receptor activation, leading to MF progression, was demonstrated (Leukemia 2017; 31: 2709). Using DNA microarray analysis, we previously showed that compared with macrophages, human fibrocytes highly express SLAMF7 (J Immunol 2015; 195: 4341). Elotuzumab (Elo) is an anti-SLAMF7 antibody recently developed for treating multiple myeloma. We showed that Elo inhibits human fibrocyte differentiation in vitro and relieves MF using the mouse model in vivo, identifying Elo as a potential therapeutic agent (manuscript in preparation). Additionally, monocytes with high SLAMF7 expression and negative CD16 expression were significantly elevated in the peripheral blood (PB) of MF patients compared with that of healthy controls (HCs). We hypothesized that this monocyte subset reflects fibrocyte activation and is the target of Elo. For the clinical study of Elo, we evaluated SLAMF7high CD16− monocyte percentage in PB of HCs, myeloproliferative neoplasm (MPN) patients with or without MF, and non-MPN patients with MF in a cross-sectional manner. Methods Six HCs, 12 non-MPN patients with MF, and 44 MPN patients (18 without and 26 with MF) were enrolled; their blood samples were collected. All MPN patients underwent bone marrow biopsy in 2016-2018 and were diagnosed by the 2016 WHO classification and diagnostic criteria. Non-MPN patients underwent bone marrow biopsy in 2015-2018, and MF was confirmed over MF-1 according to the European Consensus Criteria. SLAMF7high CD16- monocyte percentage in PB monocytes of HCs and patients was calculated using flow cytometry. Further, all patients were tested for JAK2V617F, CALR, or MPL genetic mutations. The allele burden of JAK2V617F was measured. Moreover, fibrocytes were differentiated from PB mononuclear cells of patients with genetic mutation and were verified for genetic mutation in their fibrocytes. Results Patients were classified in three groups (MPN without MF, MPN with MF, and non-MPN with MF). The median percentage of SLAMF7high CD16− monocytes in PB of HCs, MPN patients without MF, MPN patients with MF, and non-MPN patients with MF were 1.66%, 2.48%, 27.4%, and 19.8%, respectively. Compared with HCs and MPN patients without MF, SLAMF7high CD16− monocyte percentage of MPN and non-MPN patients with MF significantly increased (p < 0.05 and p < 0.01, respectively) (Figure A). MPN patients with MF harboring JAK2V617F (n = 17) had a significantly higher SLAMF7high CD16− monocyte percentage than those without MF harboring JAK2V617F (n = 8) (median: 43.70% vs. 7.00%, p < 0.001). While a similar trend was observed in patients not harboring JAK2V617F (median: 1.15% vs. 3.26%, p = 0.05), the contrast between patients with and without MF patients was significant for those with JAK2V617F (Figure B). More than 25% of SLAMF7high CD16− monocytes in PB indicates MF in MPN patients harboring JAK2V617F (sensitivity: 82.4%, specificity: 87.5%). In addition, the JAK2V617F allele burden of fibrocytes was strongly correlated with the SLAMF7high CD16− monocyte percentage in PB (p = 0.0003) (Figure C). In all patients, fibrocytes and PB harbored the same genetic mutation. Conclusion The percentage of SLAMF7high CD16− monocytes in PB elevated in MF patients regardless of MPN, whereas it was not elevated in MPN patients without MF. In MPN patients, those with MF harboring JAK2V617F presented a high SLAMF7high CD16-monocyte percentage in PB, positively correlating with the JAK2V617F allele burden of fibrocytes. In conclusion, SLAMF7high CD16- monocyte levels are closely related with MF and neoplastic clones of fibrocytes harboring JAK2V617F, indicating fibrocyte activation and representing a non-invasive marker of MF progression and a potential target for Elo treatment. Figure. Figure. Disclosures Usuki: Sumitomo Dainippon Pharma: Research Funding, Speakers Bureau; Celgene Corporation: Research Funding, Speakers Bureau; Daiichi Sankyo: Research Funding; Boehringer-Ingelheim Japan: Research Funding; Sanofi K.K.: Research Funding; Shire Japan: Research Funding; SymBio Pharmaceuticals Limited.: Research Funding; Chugai Pharmaceutical: Speakers Bureau; Takeda Pharmaceutical: Speakers Bureau; Ono Pharmaceutical: Speakers Bureau; Novartis: Speakers Bureau; Janssen Pharmaceutical K.K: Research Funding; Pfizer Japan: Research Funding, Speakers Bureau; GlaxoSmithKline K.K.: Research Funding; Kyowa Hakko Kirin Co., Ltd.: Research Funding; Otsuka Pharmaceutical Co., Ltd.: Research Funding; Astellas Pharma Inc.: Research Funding; Nippon Shinyaku: Speakers Bureau; Mochida Pharmaceutical: Speakers Bureau; MSD K.K.: Speakers Bureau.

Clinical Utility of Routine Targeted Next-Generation Sequencing of Peripheral Blood in the Evaluation of Patients with Cytopenias

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3090-3090
Author(s):  
Vignesh Shanmugam ◽  
Aric Parnes ◽  
Elizabeth A Morgan ◽  
Annette S. Kim
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Biopsy ◽  
Somatic Mutation ◽  
Peripheral Blood ◽  
Hematologic Malignancy ◽  
Hematologic Malignancies ◽  
Pathogenic Mutation ◽  
Myeloid Neoplasm ◽  
Complete Work ◽  
Work Up

Abstract Background With the increasing accessibility of next-generation sequencing (NGS), many institutions are incorporating routine mutational profiling to assist in the evaluation of patients with a variety of hematologic disorders, including cytopenias. Such testing can be helpful in distinguishing neoplastic causes of cytopenias from others. Mutation profiling of peripheral blood is a particularly attractive option because of its potential application as a minimally invasive screen for hematologic malignancies, particularly myeloid neoplasms. However, it is not entirely clear how such molecular data can inform hematology practice as there is limited data on the clinical value of routine NGS testing in cytopenic patients. Here we report the clinical utility of peripheral blood screening by targeted NGS testing in a large institutional cohort of patients with cytopenias. Methods After institutional review board approval, we identified all patients presenting with peripheral blood cytopenias over a 30-month period (January 2015 - June 2017) to the Adult Hematology Clinic at Dana-Farber/Brigham and Women's Cancer Center (n=1491). Of these, 244 patients (median age: 66, range: 22-93) underwent testing of a peripheral blood specimen using a custom 95-gene, amplicon-based sequencing panel (Rapid Heme Panel, Kluk et al., 2016) surveying genes recurrently mutated in hematologic malignancies (Table 1). In addition, these patients also received a complete hematologic work-up to determine the cause for the cytopenia(s). All patients with a known history of a hematologic malignancy were excluded. Results Overall, 60 (25%) patients had a pathogenic somatic mutation in at least one of the 95 genes studied (Figure 1). An underlying hematologic malignancy was identified in 26 (44%) of these patients at the time of presentation, most commonly a myeloid neoplasm (19/26; 73%); 11 (18%) had a non-neoplastic etiology of the cytopenia(s); and 23 (38%) had unexplained cytopenia(s) following complete work-up. The most frequently mutated genes in patients with unexplained cytopenias were TET2, SF3B1 and SRSF2. Of the 184 (75%) patients without a pathogenic somatic mutation, 15 (8%) of these patients were found to have an underlying hematologic malignancy at the time of presentation, most commonly a lymphoid neoplasm (11/15; 73%); 84 (46%) had a non-neoplastic etiology of the cytopenia(s); and 85 (46%) had unexplained cytopenia(s) following complete work-up. With a median follow-up of 22 months, two patients with non-clonal unexplained cytopenias went on to develop MDS and splenic marginal zone lymphoma, respectively. Overall, the presence of a pathogenic mutation was strongly associated with the diagnosis of a myeloid neoplasm (RR 11.6, 95% CI 4.5-29.8). Conversely, if no pathogenic mutation were identified, the likelihood of developing a myeloid neoplasm in 2 years was low (5/184; 2.7%). To further investigate the diagnostic utility of peripheral blood mutational profiling as a screening test in predicting the presence of a myeloid neoplasm on bone marrow biopsy, we studied its diagnostic characteristics using bone marrow biopsy diagnosis within a 6-month interval as the gold standard (n=57). The absence of a pathogenic mutation in peripheral blood was highly predictive of absence of a myeloid neoplasm on bone marrow biopsy (NPV 94%, 95% CI 84-99%). The presence of specific mutations in spliceosome genes (SF3B1, SRSF2, U2AF1) and co-mutation patterns involving DNMT3A, TET2 and ASXL1 genes and other genes were predictive of a myeloid neoplasm with positive predictive values of 75% (95% CI 41-93%) and 70% (95% CI 41-88%) respectively. Finally, larger clone sizes (≥20%) and higher numbers of mutations (≥2) were also predictive of a myeloid neoplasm (PPV: 80%, 95% CI 60-90% and 75%, 95% CI 49-90%, respectively). Conclusions In conclusion, mutation profiling of peripheral blood is a valuable minimally invasive test in the diagnostic work-up of the cytopenic patient. After a complete hematologic work-up and in the absence of a pathogenic somatic mutation, the likelihood of developing a myeloid neoplasm in 2 years is very low. Also, the lack of a pathogenic mutation in peripheral blood is highly predictive of the absence of a myeloid neoplasm on a bone marrow biopsy. Finally, certain molecular features (number and type of mutations, clone size) are predictive of a myeloid neoplasm. Disclosures Kim: LabCorp, Inc.: Consultancy; Papgene, Inc: Consultancy; Aushon Biosciences: Consultancy.

MIR150 Is Involved in the Monocyte Subset Differentiation and Its Down-Regulation Leads to Classical Monocyte Accumulation in Chronic Myelomonocytic Leukemia

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1133-1133
Author(s):  
Dorothee Selimoglu-Buet ◽  
Julie Riviere ◽  
Margot Morabito ◽  
Catherine Lacout ◽  
Aurelie Chauveau ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Human Monocyte ◽  
Chronic Myelomonocytic Leukemia ◽  
Monocyte Subset ◽  
Monocyte Subsets ◽  
Down Regulation ◽  
Cd34 Cells ◽  
Myelomonocytic Leukemia ◽  
Classical Monocytes

Abstract Background. Monocytes are a heterogeneous population of peripheral blood leukocytes. The expression of CD14 and CD16 distinguishes CD14+/CD16- classical from CD14+/CD16+ intermediate and CD14low/CD16+ non-classical monocytes. We have shown (Selimoglu-Buet D et al, Blood 2015) that monocytes that accumulate in the peripheral blood of patients with chronic myelomonocytic leukemia (CMML) are predominantly CD14+/CD16- classical monocytes that typically represent more than 94% of total blood monocytes. Strikingly, this phenotypic signature efficiently distinguishes CMML from a reactive monocytosis. Importantly, the CMML-associated increase in classical monocyte fraction disappears in patients who respond to hypomethylating drugs. Whereas in the mouse, the transcription factor Nr4a1 is required for the development of the Ly6Clowmonocytes, the molecular mechanisms that regulate the formation of the three human monocyte populations remain poorly understood. Analysis of the classical monocytes accumulation in CMML may provide insights into the regulation of monocyte subset differentiation. Methods. A microarray screen of miRNA expression was performed in monocytes sorted from 33 CMML and 5 healthy donor blood samples. Validation was performed by qRT-PCR, in monocytes of a cohort of 160 CMML patients and 20 controls, and in CD34+ cells from 44 CMML patients and 19 controls. A mouse model of MIR150-knock-out (Mir150-/-) was used to examine the consequences of the miRNA down-regulation. Multi-color flow cytometry assays were designed to explore mouse and human monocyte subsets. Results. Microarray analyses and validation experiments identified a decreased expression of miR150 in monocytes and CD34+cells from CMML patients compared to controls. Mir150-/- mouse model does not generate monocytosis even in ageing animals. However, an increase in Ly6Chigh inflammatory monocyte fraction at the expense of Ly6Clowpatrolling monocytes was observed in the bone marrow and peripheral blood, leading to further explore the link between MIR150 and monocyte populations. The abnormal repartition of monocyte populations in Mir150-/- mice is a cell-autonomous phenotype as wild-type (WT) mice receiving bone marrow from Mir150-/-mice demonstrated a reduced fraction of Ly6Clow monocytes. This phenotype was rescued by re-expression of MIR150 in LIN- cells of Mir150-/-mice before engraftment. The number of myeloid progenitors was normal in Mir150-/-mice, and the remaining Ly6Clow monocytes did not demonstrate an increased sensitivity to apoptosis. Competitive reconstitution experiments combining WT and Mir150-/-LIN- cells did not identify any significant fitness advantage to Mir150-/-cells, but Mir150-/-donor cells developed reduced numbers of Ly6Clow monocytes than cells from WT donors. These data suggest that MIR150 is involved during late stages of monocyte development and has a key role in the generation of Ly6Clowmonocytes. Finally, TET2 is the main gene mutated in CMML, and Tet2-/- animals develop a monocytosis. Mir150-/- crossed with Tet2-/-mice developed a CMML-like phenotype. In human, the expression of MIR150 decreases along myeloid differentiation and is low in classical compared to intermediate and non-classical monocytes. Depletion or overexpression of MIR150 in human CD34+ cells alters the repartition of CD14+/CD16- and CD14+/CD16+ cells generated in culture. In CMML patients who respond to hypomethylating agents, the normalization of monocyte subset repartition correlates with an increased expression of MIR150, suggesting an epigenetic regulation. MIR150 has several promoters. By combining ChIP-Seq and DNA methylation analyses, a differentially methylated region was detected in one of the MIR150 promoters in CMML patients compared to controls. Using monocyte differentiation conditions, RNA Sequencing performed in CD34+cells overexpressing MIR150, identified ID1 gene as a potential MIR150 target. Conclusion: We demonstrate a role for MIR150 in the generation of intermediate and non-classical monocyte subsets, and its down-regulation in CMML accounts for the characteristic accumulation of classical monocytes. Disclosures Fenaux: Celgene, Janssen,Novartis, Astex, Teva: Honoraria, Research Funding.

scholarly journals Evaluation of Positive B- and T-Cell Gene Rearrangement Studies in Patients With Negative Morphology, Flow Cytometry, and Immunohistochemistry

2020 ◽  
Author(s):  
Hadrian Mendoza ◽  
Christopher A. Tormey ◽  
Alexa J. Siddon
Keyword(s):  
Bone Marrow ◽  
T Cell ◽  
Peripheral Blood ◽  
Gene Rearrangement ◽  
Hematologic Malignancy ◽  
Disease Process ◽  
Final Diagnosis ◽  
Cell Receptor ◽  
Testing Specimen ◽  
Negative Phenotype

Context.— The significance of positive immunoglobulin (IG) or T-cell receptor (TCR) gene rearrangement studies in the context of otherwise normal ancillary findings is unknown. Objective.— To examine long-term hematologic outcomes of individuals with positive gene rearrangement studies with otherwise unremarkable blood or bone marrow studies in parallel. Design.— Data from patients who underwent IG or TCR gene rearrangement testing at the authors' affiliated Veterans Affairs Hospital January 1, 2013 to July 6, 2018 were extracted from medical records. Date of testing, specimen source, and morphologic, flow cytometric, immunohistochemical, and cytogenetic characterization of the tissue source were recorded. Gene rearrangement results were categorized as test positive/phenotype positive (T+/P+), test positive/phenotype negative (T+/P−), test negative/phenotype negative (T−/P−), or test negative/phenotype positive (T−/P+) based on comparison to other studies and/or final diagnosis. Patient records were reviewed for subsequent diagnosis of hematologic malignancy for patients with positive gene rearrangements but no other evidence for a disease process. Results.— A total of 136 patients with 203 gene rearrangement studies were analyzed. For TCR studies, there were 2 T+/P− and 1 T−/P+ results in 47 peripheral blood assays, as well as 7 T+/P− and 1 T−/P+ results in 54 bone marrow assays. Regarding IG studies, 3 T+/P− and 12 T−/P+ results in 99 bone marrow studies were identified. None of the 12 patients with T+/P− TCR or IG gene rearrangement studies later developed a lymphoproliferative disorder. Conclusions.— Positive IG/TCR gene rearrangement studies in the context of otherwise negative bone marrow or peripheral blood findings are not predictive of lymphoproliferative disorders.

scholarly journals Long-Term Survival after Transplantation of Unrelated Donor Peripheral Blood or Bone Marrow Hematopoietic Cells for Hematologic Malignancy

2015 ◽  
Vol 21 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Mary Eapen ◽  
Brent R. Logan ◽  
Fredrick R. Appelbaum ◽  
Joseph H. Antin ◽  
Claudio Anasetti ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Hematologic Malignancy ◽  
Hematopoietic Cells ◽  
Unrelated Donor ◽  
Term Survival ◽  
Long Term Survival

Subset of T-Cell Prolymphocytic Leukemia Expresses CD117. Potential Target for Therapy.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4540-4540 ◽  
Author(s):  
Wojciech Gorczyca ◽  
Henry Y. Dong
Keyword(s):  
Bone Marrow ◽  
Flow Cytometry ◽  
T Cell ◽  
Peripheral Blood ◽  
Large Cell ◽  
Phenotypic Data ◽  
Aberrant Expression ◽  
Prolymphocytic Leukemia ◽  
Molecular Features ◽  
Cell Neoplasm

Abstract Introduction Excluding non-hematopoietic lesions, CD117 (c-kit) is expressed by erythroid, megakaryocytic and myeloid precursors, mature mast cells, subset of plasma cell neoplasm and occasional precursor lymphoblastic tumors. C-kit plays important role in T-cell development around birth, but the expression of CD117 in mature T-cell lymphoproliferations is rare. We present flow cytometry phenotypic data of 28 cases of T-cell prolymphocytic leukemia (T-PLL). Material and methods Multiparameter 4-color FC analysis was performed on peripheral blood and/or bone marrow aspirate samples using the following antibodies: CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD11c, CD13, CD14, CD16, CD19, CD20, CD25, CD33, CD34, CD38, CD45, CD56, CD64, CD79a, CD117, TCRab/γδ, TdT, and HLA-DR. Fresh bone marrow aspirates and/or peripheral blood films and cytospin preparations from FC samples were stained with Wright-Giemsa. Results T-PLL was diagnosed 28 cases. The ages ranged from 43 to 92 years. Normal expression of pan-T cell antigens (CD2, CD3, CD5, CD7) was present in 57%. Abnormal expression of one, two and three antigens was noted in 21%, 11% and 11%, respectively. 4 cases showed aberrant expression of CD117. Those cases were always CD8-positive (50% of T-PLL were CD4+). There were no pan-myeloid (CD13, CD33) and blastic (TdT, CD34) markers present. Molecular studies confirmed clonal rearrangement of TCR. Discussion T-PLL is rare mature T-cell neoplasm characterized by marked lymphocytosis of small to medium-sized cells with conspicuous nucleoli. The response to conventional chemotherapy in T-PLL, similarly to other mature T-cell lymphoproliferations (except ALK+ anaplastic large cell lymphoma) generally is poor. While the use of alemtuzumab (Campath-1H) has improved remissions, the disease remains incurable. Novel treatment approaches, tailored to individual patients, and based on pathologic, phenotypic and molecular features will be crucial to improve survival for the patients with this disease. Based on the flow cytometry analysis of 28 cases of T-PLL we identified 4 cases with co-expression of CD117 (14%). When present, it is restricted to CD8+ tumors. We speculate that the expression of CD117 (c-kit) in these patients apart from its diagnostic utility, may serve as a criterion for a combination therapy with Campath-1H and imatinib mesylate.

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