scholarly journals Detection of PAX5 Overexpression By RNA-Seq for B-Cell Lineage Detection in Acute Lymphocytic Leukemia

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 4925-4925
Author(s):  
Abhisek Ghosal ◽  
Francys Alarcon ◽  
Samuel Koo ◽  
Soo Jin Kang ◽  
Archana Ramesh ◽  
...  
Keyword(s):  
Gene Expression ◽  
B Cell ◽  
Acute Lymphocytic Leukemia ◽  
Cell Lineage ◽  
Lymphocytic Leukemia ◽  
Rna Expression ◽  
Pcr Assay ◽  
Over Expression ◽  
Qrt Pcr ◽  
Pax5 Gene

Abstract Background: Paired-box Pax gene family protein 5 (PAX5)/B-cell specific activator protein (BSAP) is a transcription factor encoded by the PAX5 gene and has an essential role in B-cell differentiation and maturation. High PAX5 expression is detected ensures commitment to B-cell lineage. PAX5 is normally downregulated at the plasma cell stage of B-cell development. Complete or partial deletion of the PAX5 gene has been found as secondary event associated with BCR-ABL1 or TCF3-PBX1 fusions in Acute Lymphocytic Leukemia (ALL) cases. PAX5 expression is a diagnostic marker for B-cell lineage and may help quantify minimal residual disease in B-ALL. Lineage determination of leukemic blasts is most often performed by flow cytometry, but also by immunohistochemistry (IHC). Evaluation of PAX5 is most commonly available by IHC and is not widely performed by flow cytometry. In cases with limited specimen for evaluation or aberrant loss of some B-cell markers, determining quantitative levels of RNA from lineage-specific genes, such as PAX5, could be a valuable clinical diagnostic tool for ALL patients. Our existing single tube NGS based assay for simultaneous detection of DNA alterations and RNA fusions in heme malignancies from Total Nucleic Acid (TNA), can also be used to detect PAX5 gene expression through select exons enrichment along with a total of 213 genes. However, one of the current challenges for NGS-based gene expression profiling is to setup a threshold for overexpression. Here we developed a cutoff criterion for PAX5 overexpression and evaluated the performance of PAX5 gene expression analysis using the in-use heme assay and its potential use in clinical laboratory for cell lineage detection. Methods: RNA sequencing was performed on TNA extracted from ALL samples and from 32 healthy donors using partial anchored amplicon based (Qiagen, inc) heme NGS assay. PAX5 RNA expression was calculated by TPM (transcript per million) counts normalized to TPM of the house-keeping gene GUSB. A commercially available qRT-PCR assay was used as orthogonal method to confirm the gene expression. The expression call by NGS based on the normalized value was confirmed by a commercial qRT-PCR assay in house validated through serial dilutions of template for six log scale. The analytical cutoff was determined from normalized TPM calculation from 32 healthy volunteers following CLSI guideline (CLSI_EP17-A2) and evaluated the outcome with IHC positive /negative clinical samples (a CLIA validated assay). Further, we used the established cutoff to evaluate the sensitivity or specificity in cohort of ALL samples. Results: In this study we established the cutoff for PAX5 gene over-expression using the currently in-use heme NGS assay. First, a cutoff was established following the method in the CLSI guidelines and tested for sensitivity and specificity in the ALL sample cohort. PAX5 TPM normalization to GUSB or to the geometric mean of four house keeping genes (GUSB, PGD, RPL5 and RPL19) showed a strong correlation (R2>0.95), and GUSB was selected for further normalization since GUSB TPM values were most conserved across all the samples. Independent in-house evaluation for commercial qRT-PCR assay showed efficiency at 94.3 and 96% for GUSB and PAX5, respectively (with linearity R2>0.95), and been used to compare the NGS and IHC data as independent orthogonal assay. When a cohort of samples for Pax5 by IHC (positive and negative), a sensitivity at 67% and specificity at 100% were observed for the NGS based Pax5 detection. NGS results on the discordant samples were confirmed by qRT-PCR to have low RNA expression. Notably the discordant, IHC positive samples contained very low numbers of B cells. Alongside with other possible mechanisms of increased protein levels such as increased protein translation/increased protein stability could explain the discordance between RNA expression and the protein detection by IHC. Conclusions: In this study we demonstrate that NeoGenomics's (heme) NGS assay can be used for PAX5 gene over-expression analysis on ALL. The heme NGS is inexpensive and is already integrated in the benchwork workflow without adding extra burden and can be used as an objective quantification of PAX5 levels overcoming the challenges associated with the relative signal intensity biases in IHC testing. This type of RNA testing can be useful especially with specimens having limited material. Disclosures Ghosal: NeoGenomics Laboratories: Current Employment. Alarcon: NeoGenomics Laboratories: Current Employment. Koo: Neo Genomics Laboratories: Current Employment. Kang: Neo Genomics Laboratories: Current Employment. Ramesh: Neo Genomics Laboratories: Current Employment. Gyuris: Neo Genomics Laboratories: Current Employment. Jung: NeoGenomics Laboratories, Inc.: Current Employment. Thomas: NeoGenomics Laboratories, Inc.: Current Employment. Fabunan: NeoGenomics Laboratories, Inc.: Current Employment. Magnan: NeoGenomics Laboratories, Inc.: Current Employment. Nam: NeoGenomics Laboratories, Inc.: Current Employment. Petersen: Neo Genomics Laboratories: Current Employment. Lopez-Diaz: NeoGenomics Laboratories, Inc.: Current Employment. Bender: NeoGenomics Laboratories, Inc.: Current Employment. Agersborg: NeoGenomics Laboratories, Inc.: Current Employment. Ye: Neo Genomics Laboratories: Current Employment. Funari: NeoGenomics Laboratories, Inc.: Current Employment.

scholarly journals Relation of Gene Expression Phenotype to Immunoglobulin Mutation Genotype in B Cell Chronic Lymphocytic Leukemia

2001 ◽  
Vol 194 (11) ◽  
pp. 1639-1648 ◽  
Author(s):  
Andreas Rosenwald ◽  
Ash A. Alizadeh ◽  
George Widhopf ◽  
Richard Simon ◽  
R. Eric Davis ◽  
...  
Keyword(s):  
Gene Expression ◽  
Chronic Lymphocytic Leukemia ◽  
B Cell ◽  
Germ Line ◽  
Gene Expression Signature ◽  
Lymphocytic Leukemia ◽  
Common Mechanism ◽  
Human Leukemia ◽  
Mutational Status ◽  
Cell Chronic Lymphocytic Leukemia

The most common human leukemia is B cell chronic lymphocytic leukemia (CLL), a malignancy of mature B cells with a characteristic clinical presentation but a variable clinical course. The rearranged immunoglobulin (Ig) genes of CLL cells may be either germ-line in sequence or somatically mutated. Lack of Ig mutations defined a distinctly worse prognostic group of CLL patients raising the possibility that CLL comprises two distinct diseases. Using genomic-scale gene expression profiling, we show that CLL is characterized by a common gene expression “signature,” irrespective of Ig mutational status, suggesting that CLL cases share a common mechanism of transformation and/or cell of origin. Nonetheless, the expression of hundreds of other genes correlated with the Ig mutational status, including many genes that are modulated in expression during mitogenic B cell receptor signaling. These genes were used to build a CLL subtype predictor that may help in the clinical classification of patients with this disease.

scholarly journals Influence of cytotoxicity enhancers in combination with human serum on the activity of CD22-recombinant ricin A against B cell lines, chronic and acute lymphocytic leukemia cells

Leukemia ◽  
1999 ◽  
Vol 13 (2) ◽  
pp. 241-249 ◽  
Author(s):  
PJ van Horssen ◽  
YVJM van Oosterhout ◽  
S Evers ◽  
HHJ Backus ◽  
MGCT van Oijen ◽  
...  
Keyword(s):  
B Cell ◽  
Human Serum ◽  
Cell Lines ◽  
Acute Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Leukemia Cells ◽  
Ricin A

Distinct Gene Expression Signatures in Patients with Richter's Syndrome and Chronic Lymphocytic Leukemia with Prior Exposure to Ibrutinib

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 30-31
Author(s):  
Hanyin Wang ◽  
Shulan Tian ◽  
Qing Zhao ◽  
Wendy Blumenschein ◽  
Jennifer H. Yearley ◽  
...  
Keyword(s):  
Gene Expression ◽  
B Cell ◽  
Board Of Directors ◽  
Research Funding ◽  
Cell Activation ◽  
Expression Profiles ◽  
Lymphocytic Leukemia ◽  
B Cell Activation ◽  
Advisory Committees ◽  
Upregulated Genes

Introduction: Richter's syndrome (RS) represents transformation of chronic lymphocytic leukemia (CLL) into a highly aggressive lymphoma with dismal prognosis. Transcriptomic alterations have been described in CLL but most studies focused on peripheral blood samples with minimal data on RS-involved tissue. Moreover, transcriptomic features of RS have not been well defined in the era of CLL novel therapies. In this study we investigated transcriptomic profiles of CLL/RS-involved nodal tissue using samples from a clinical trial cohort of refractory CLL and RS patients treated with Pembrolizumab (NCT02332980). Methods: Nodal samples from 9 RS and 4 CLL patients in MC1485 trial cohort were reviewed and classified as previously published (Ding et al, Blood 2017). All samples were collected prior to Pembrolizumab treatment. Targeted gene expression profiling of 789 immune-related genes were performed on FFPE nodal samples using Nanostring nCounter® Analysis System (NanoString Technologies, Seattle, WA). Differential expression analysis was performed using NanoStringDiff. Genes with 2 fold-change in expression with a false-discovery rate less than 5% were considered differentially expressed. Results: The details for the therapy history of this cohort were illustrated in Figure 1a. All patients exposed to prior ibrutinib before the tissue biopsy had developed clinical progression while receiving ibrutinib. Unsupervised hierarchical clustering using the 300 most variable genes in expression revealed two clusters: C1 and C2 (Figure 1b). C1 included 4 RS and 3 CLL treated with prior chemotherapy without prior ibrutinib, and 1 RS treated with prior ibrutinib. C2 included 1 CLL and 3 RS received prior ibrutinib, and 1 RS treated with chemotherapy. The segregation of gene expression profiles in samples was largely driven by recent exposure to ibrutinib. In C1 cluster (majority had no prior ibrutinb), RS and CLL samples were clearly separated into two subgroups (Figure 1b). In C2 cluster, CLL 8 treated with ibrutinib showed more similarity in gene expression to RS, than to other CLL samples treated with chemotherapy. In comparison of C2 to C1, we identified 71 differentially expressed genes, of which 34 genes were downregulated and 37 were upregulated in C2. Among the upregulated genes in C2 (majority had prior ibrutinib) are known immune modulating genes including LILRA6, FCGR3A, IL-10, CD163, CD14, IL-2RB (figure 1c). Downregulated genes in C2 are involved in B cell activation including CD40LG, CD22, CD79A, MS4A1 (CD20), and LTB, reflecting the expected biological effect of ibrutinib in reducing B cell activation. Among the 9 RS samples, we compared gene profiles between the two groups of RS with or without prior ibrutinib therapy. 38 downregulated genes and 10 upregulated genes were found in the 4 RS treated with ibrutinib in comparison with 5 RS treated with chemotherapy. The top upregulated genes in the ibrutinib-exposed group included PTHLH, S100A8, IGSF3, TERT, and PRKCB, while the downregulated genes in these samples included MS4A1, LTB and CD38 (figure 1d). In order to delineate the differences of RS vs CLL, we compared gene expression profiles between 5 RS samples and 3 CLL samples that were treated with only chemotherapy. RS samples showed significant upregulation of 129 genes and downregulation of 7 genes. Among the most significantly upregulated genes are multiple genes involved in monocyte and myeloid lineage regulation including TNFSF13, S100A9, FCN1, LGALS2, CD14, FCGR2A, SERPINA1, and LILRB3. Conclusion: Our study indicates that ibrutinib-resistant, RS-involved tissues are characterized by downregulation of genes in B cell activation, but with PRKCB and TERT upregulation. Furthermore, RS-involved nodal tissues display the increased expression of genes involved in myeloid/monocytic regulation in comparison with CLL-involved nodal tissues. These findings implicate that differential therapies for RS and CLL patients need to be adopted based on their prior therapy and gene expression signatures. Studies using large sample size will be needed to verify this hypothesis. Figure Disclosures Zhao: Merck: Current Employment. Blumenschein:Merck: Current Employment. Yearley:Merck: Current Employment. Wang:Novartis: Research Funding; Incyte: Research Funding; Innocare: Research Funding. Parikh:Verastem Oncology: Honoraria; GlaxoSmithKline: Honoraria; Pharmacyclics: Honoraria, Research Funding; MorphoSys: Research Funding; Ascentage Pharma: Research Funding; Genentech: Honoraria; AbbVie: Honoraria, Research Funding; Merck: Research Funding; TG Therapeutics: Research Funding; AstraZeneca: Honoraria, Research Funding; Janssen: Honoraria, Research Funding. Kenderian:Sunesis: Research Funding; MorphoSys: Research Funding; Humanigen: Consultancy, Patents & Royalties, Research Funding; Gilead: Research Funding; BMS: Research Funding; Tolero: Research Funding; Lentigen: Research Funding; Juno: Research Funding; Mettaforge: Patents & Royalties; Torque: Consultancy; Kite: Research Funding; Novartis: Patents & Royalties, Research Funding. Kay:Astra Zeneca: Membership on an entity's Board of Directors or advisory committees; Acerta Pharma: Research Funding; Juno Theraputics: Membership on an entity's Board of Directors or advisory committees; Dava Oncology: Membership on an entity's Board of Directors or advisory committees; Oncotracker: Membership on an entity's Board of Directors or advisory committees; Sunesis: Research Funding; MEI Pharma: Research Funding; Agios Pharma: Membership on an entity's Board of Directors or advisory committees; Bristol Meyer Squib: Membership on an entity's Board of Directors or advisory committees, Research Funding; Tolero Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees, Research Funding; Abbvie: Research Funding; Pharmacyclics: Membership on an entity's Board of Directors or advisory committees, Research Funding; Rigel: Membership on an entity's Board of Directors or advisory committees; Morpho-sys: Membership on an entity's Board of Directors or advisory committees; Cytomx: Membership on an entity's Board of Directors or advisory committees. Braggio:DASA: Consultancy; Bayer: Other: Stock Owner; Acerta Pharma: Research Funding. Ding:DTRM: Research Funding; Astra Zeneca: Research Funding; Abbvie: Research Funding; Merck: Membership on an entity's Board of Directors or advisory committees, Research Funding; Octapharma: Membership on an entity's Board of Directors or advisory committees; MEI Pharma: Membership on an entity's Board of Directors or advisory committees; alexion: Membership on an entity's Board of Directors or advisory committees; Beigene: Membership on an entity's Board of Directors or advisory committees.

A 14q+ chromosome in a B-cell acute lymphocytic leukemia and in a leukemic non-endemic Burkitt lymphoma

1979 ◽  
Vol 23 (5) ◽  
pp. 639-647 ◽  
Author(s):  
R. M. Slater ◽  
P. Philip ◽  
E. Badsberg ◽  
H. Behrendt ◽  
N. E. Hansen ◽  
...  
Keyword(s):  
B Cell ◽  
Burkitt Lymphoma ◽  
Acute Lymphocytic Leukemia ◽  
Lymphocytic Leukemia

Results of Treatment With Hyper-CVAD, a Dose-Intensive Regimen, in Adult Acute Lymphocytic Leukemia

2000 ◽  
Vol 18 (3) ◽  
pp. 547-547 ◽  
Author(s):  
Hagop M. Kantarjian ◽  
Susan O’Brien ◽  
Terry L. Smith ◽  
Jorge Cortes ◽  
Francis J. Giles ◽  
...  
Keyword(s):  
B Cell ◽  
Acute Lymphocytic Leukemia ◽  
Philadelphia Chromosome ◽  
Lymphocytic Leukemia ◽  
Prognostic Models ◽  
Poor Performance Status ◽  
High Dose ◽  
Cell Disease ◽  
Adult Acute Lymphocytic Leukemia ◽  
Intensive Regimen

PURPOSE: To evaluate the efficacy and toxicity of Hyper-CVAD (fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone), a dose-intensive regimen, in adult acute lymphocytic leukemia (ALL). PATIENTS AND METHODS: Adults with newly diagnosed ALL referred since 1992 were entered onto the study; treatment was initiated in 204 patients between 1992 and January 1998. No exclusions were made because of older age, poor performance status, organ dysfunction, or active infection. Median age was 39.5 years; 37% were at least 50 years old. Mature B-cell disease (Burkitt type) was present in 9%, T-cell disease in 17%. Leukocytosis of more than 30 × 109/L was found in 26%, Philadelphia chromosome–positive disease in 16% (20% of patients with assessable metaphases), CNS leukemia at the time of diagnosis in 7%, and a mediastinal mass in 7%. Treatment consisted of four cycles of Hyper-CVAD alternating with four cycles of high-dose methotrexate (MTX) and cytarabine therapy, together with intrathecal CNS prophylaxis and supportive care with antibiotic prophylaxis and granulocyte colony-stimulating factor therapy. Maintenance in patients with nonmature B-cell ALL included 2 years of treatment with mercaptopurine, MTX, vincristine, and prednisone (POMP). RESULTS: Overall, 185 patients (91%) achieved complete remission (CR) and 12 (6%) died during induction therapy. Estimated 5-year survival and 5-year CR rates were 39% and 38%, respectively. The incidence of CNS relapse was low (4%). Compared with 222 patients treated with vincristine, doxorubicin, and dexamethasone (VAD) regimens, our patients had a better CR rate (91% v 75%, P < .01) and CR rate after one course (74% v 55%, P < .01) and better survival (P < .01), and a smaller percentage had more than 5% day 14 blasts (34% v 48%, P = .01). Previous prognostic models remained predictive for outcome with Hyper-CVAD therapy. CONCLUSION: Hyper-CVAD therapy is superior to our previous regimens and should be compared with established regimens in adult ALL.

B cell acute lymphocytic leukemia in adults. Clinical, morphologic, and immunologic findings.

1986 ◽  
Vol 4 (5) ◽  
pp. 737-743 ◽  
Author(s):  
P S Gill ◽  
P R Meyer ◽  
Z Pavlova ◽  
A M Levine
Keyword(s):  
B Cell ◽  
Acute Lymphocytic Leukemia ◽  
Disease Free Survival ◽  
Lymphocytic Leukemia ◽  
Cell Phenotype ◽  
History Of ◽  
Acquired Immunodeficiency ◽  
Immunologic Marker ◽  
Immunodeficiency Syndrome

Acute lymphocytic leukemia (ALL) is a heterogeneous group of disorders, clinically, immunologically, and pathologically. ALL of a B cell phenotype (B-ALL) is the least common. We have studied ten adult patients with B-ALL, none of whom had a tumor mass. The median age was 56 years (range, 30 to 90). A history of an altered immune state was noted in four cases: a distant history of Hashimoto's thyroiditis in one, pregnancy in one, and acquired immunodeficiency syndrome in two. Two patients presented with CNS involvement, and in two additional patients CNS leukemia developed during the course of disease. By the French-American-British (FAB) classification system, L3 leukemic morphology was present in nine, whereas L2 was present in one. Circulating leukemic blasts varied from less than 500/dL to greater than 15,000/dL. Eight patients were thrombocytopenic, and eight were anemic at presentation. Immunologic marker studies on leukemic blasts revealed monoclonal kappa light chain marking in nine and monoclonal lambda in one. Following chemotherapy, complete remission was achieved in three patients, two of whom experienced relapse within 9 months. The median survival for the group was 3 months, and only one patient experienced long-term, disease-free survival. We conclude that B-ALL in the adult presents with the classic L3 morphologic picture in the majority and is associated with extremely short survival.

scholarly journals Comparative Analysis of Systemic and Tumor Microenvironment Proteomes From Children With B-Cell Acute Lymphocytic Leukemia at Diagnosis and After Induction Treatment

2020 ◽  
Vol 10 ◽  
Author(s):  
Geise Ellen Broto ◽  
Stephany Corrêa ◽  
Fausto Celso Trigo ◽  
Everton Cruz dos Santos ◽  
Fernanda Tomiotto-Pelissier ◽  
...  
Keyword(s):  
Transcription Factor ◽  
B Cell ◽  
Acute Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Induction Treatment ◽  
Induction Phase ◽  
Label Free ◽  
Childhood Diseases ◽  
Coagulation Proteins ◽  
Ifn Γ

Among the childhood diseases, B-cell acute lymphocytic leukemia (B-ALL) is the most frequent type of cancer. Despite recent advances concerning disease treatment, cytotoxic chemotherapy remains the first line of treatment in several countries, and the modifications induced by such drugs in the organism are still poorly understood. In this context, the present study provided a comparative high-throughput proteomic analysis of the cumulative changes induced by chemotherapeutic drugs used in the induction phase of B-ALL treatment in both peripheral blood (PB) and bone marrow compartment (BM) samples. To reach this goal, PB and BM plasma samples were comparatively analyzed by using label-free proteomics at two endpoints: at diagnosis (D0) and the end of the cumulative induction phase treatment (D28). Proteomic data was available via ProteomeXchange with identifier PXD021584. The resulting differentially expressed proteins were explored by bioinformatics approaches aiming to identify the main gene ontology processes, pathways, and transcription factors altered by chemotherapy, as well as to understand B-ALL biology in each compartment at D0. At D0, PB was characterized as a pro-inflammatory environment, with the involvement of several downregulated coagulation proteins as KNG, plasmin, and plasminogen. D28 was characterized predominantly by immune response-related processes and the super expression of the transcription factor IRF3 and transthyretin. RUNX1 was pointed out as a common transcription factor found in both D0 and D28. We chose to validate the proteins transthyretin and interferon-gamma (IFN-γ) by commercial kits and expressed the results as PB/BM ratios. Transthyretin ratio was augmented after induction chemotherapy, while IFN-γ was reduced at the end of the treatment. Considering that most of these proteins were not yet described in B-ALL literature, these findings added to understanding disease biology at diagnosis and highlighted a possible role for transthyretin and IFN-γ as mechanisms related to disease resolution.

Abstract 3262: Targeting PI3K-coupled MEK/ERK pathway for therapy in pediatric B-cell acute lymphocytic leukemia.

2013 ◽  
Author(s):  
Xiang Wang ◽  
Ben-shang Li ◽  
Li-xia Ding ◽  
Chris Liang ◽  
Jian Ding ◽  
...  
Keyword(s):  
B Cell ◽  
Acute Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Erk Pathway

T-cell receptor delta/alpha rearrangements in lymphoid neoplasms

Blood ◽  
1989 ◽  
Vol 74 (3) ◽  
pp. 1073-1083 ◽  
Author(s):  
MJ Dyer
Keyword(s):  
T Cell ◽  
B Cell ◽  
T Cell Receptor ◽  
Cell Lineage ◽  
Cell Receptor ◽  
Lymphocytic Leukemia ◽  
Cell Precursor ◽  
Lymphoid Neoplasms ◽  
Histiocytic Lymphoma ◽  
T Cell Malignancies

Abstract Rearrangements within the T-cell receptor (TCR)delta/alpha locus were analyzed in a wide variety of lymphoid neoplasms by eight DNA probes specific for TCR J delta, J alpha and C alpha segments. In all 11 T- cell malignancies, rearrangement and/or deletion of TCR delta was detected irrespective of the stage of maturation of the tumor. The organization of TCR delta correlated with the phenotype of the tumor: In “prethymic” T-cell acute lymphocytic leukemia (ALL), TCR delta was the only TCR gene to be rearranged. More mature T cell malignancies expressing CD4 together with CD3 showed deletion of both alleles of TCR delta, suggestive of TCR V alpha-J alpha rearrangement. All 43 B-cell tumors expressing surface immunoglobulin (sIg), including two cases of adult B-cell ALL, had germline configuration of TCR delta/alpha. In contrast, all 17 B-cell precursor ALLs (null, common, and pre-B-cell ALLs) had rearrangement and/or deletion of TCR delta/alpha. A single case of “histiocytic” lymphoma also showed biallelic deletion of TCR delta. Oligoclonal rearrangements of Ig and TCR genes were observed in two cases of B-cell precursor ALL and in one case of T-cell lymphoblastic lymphoma. Patterns of such “aberrant” TCR rearrangement were similar to those observed in T-lineage malignancies. In particular, seven of eight cases of B-cell precursor ALL and the histiocytic lymphoma which demonstrated biallelic TCR delta deletion, (suggestive of a V alpha-J alpha rearrangement) had clonal TCR beta rearrangement. These data support the hypothesis that supposedly aberrant rearrangements of the TCR genes may follow the same developmental controls as found in T-cell differentiation, despite the lack of evidence for further commitment to the T-cell lineage. TCR delta rearrangement is a useful marker of clonality of immature T-cell tumors which may have only this gene rearranged but is not specific to the T-cell lineage.

Case of the disappearing subdural hygromas in a pediatric patient with acute lymphocytic leukemia

2012 ◽  
Vol 10 (5) ◽  
pp. 457-458
Author(s):  
Paul E. Kaloostian ◽  
Han Chen ◽  
Frederick Rupp ◽  
Erich Marchand
Keyword(s):  
B Cell ◽  
Pediatric Patient ◽  
Complete Resolution ◽  
Acute Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Initial Presentation ◽  
Mri Studies ◽  
Fluid Collections ◽  
The Brain

The authors report the case of a 16-year-old boy with pre-B cell acute lymphocytic leukemia diagnosed 2 weeks earlier. On workup for diffuse headaches he was found to have 10-mm bilateral subdural hygromas with compression of the underlying gyri. He was followed clinically, and 4 days after his initial presentation he underwent MRI studies of the brain, which showed complete resolution of the subdural fluid collections. No change in management was noted during these 4 days. This case is the first known instance of rapid, spontaneously disappearing bilateral subdural hygromas in a pediatric patient.

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