Publications by authors named "Catherine Settegrana"

Article Synopsis
  • * Key chromosomal changes included deletions and trisomies, with a high rate of mutations in several genes like TP53 and MYD88; researchers identified three risk groups based on these genetic alterations.
  • * The study suggests that using specific drug combinations targeting MYC may enhance treatment effectiveness, and that cytogenetic analysis can aid in diagnosing and predicting outcomes in B-PLL.
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Diagnosis of lymphoma leptomeningeal dissemination is challenging and relies on a wide array of methods. So far, no consensus biological guidelines are available. This increases the chance of intra- and interpractice variations, despite the shared concern to perform the minimum amount of tests while preserving clinically relevant results.

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We here report for the first time that low levels of interleukin (IL)-10 do not exclude lymphomatous meningitis (LM) in B-cell lymphoproliferative disorders (CLPD). Unexpectedly, IL-10 levels and IL-10:IL-6 ratio in CLPD differed from the levels observed in diffuse large B-cell lymphoma (DLBCL). We report the usefulness of adding the IL-10:IL-6 ratio in order to potentially reveal more aggressive lymphomas: either a transformation or an association with another "hidden" lymphoma such as primary CNS lymphoma (PCNSL).

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Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that most commonly affects adults and is driven by a high frequency of mutations in , , and kinases promoting MAPK signaling. Because of the relative rarity of ECD, key clinical features of the disease may not be well defined. Across a multi-institutional cohort of 189 patients with ECD and ECD overlapping with Langerhans cell histiocytosis (so-called mixed histiocytosis [MH]), we identified an unexpected and heretofore undescribed frequent occurrence of myeloid neoplasms among patients with ECD and MH.

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We report the case of a 31 year-old man diagnosed with an atypical acute leukemia difficult to characterize cytologically. The immunophenotyping identified a blastic population co-expressing myeloid, lymphoid B and lymphoid T markers suggesting the diagnosis of either a mixed phenotype acute leukemia (MPAL) or an early T-cell precursor acute lymphoblastic leukemia (ETP-ALL). Because of the poor prognosis linked to these leukemias, the patient benefited from chemotherapy targeting both myeloid and lymphoid components, followed by allogeneic hematopoietic stem cell transplantation.

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Hepatitis C Virus (HCV) infection is associated with the B-cell non-Hodgkin lymphomas (NHL), preferentially marginal zone lymphomas (MZL) and diffuse large B-cell lymphomas (DLBCL). While chronic antigenic stimulation is a main determinant of lymphomagenesis in marginal zone lymphomas (MZL), a putative role of HCV infection of B-cells is supported by in vitro studies. We performed a pathological study within the "ANRS HC-13 LymphoC" observational study focusing on in situ expression of the oncogenic HCV non structural 3 (NS3) protein.

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Article Synopsis
  • Hepatitis C virus (HCV) infection is linked to a higher risk of developing B-cell non-Hodgkin lymphomas (B-NHL), with particular attention on marginal zone lymphomas (MZL).
  • The ANRS HC-13 Lympho-C study enrolled 116 HCV-positive B-NHL patients from 2006 to 2012, analyzing factors like age, gender, and specific lymphoma types, revealing differences in disease characteristics between MZL and diffuse large B-cell lymphoma (DLBCL) patients.
  • Antiviral treatment (AT) showed a favorable association with overall survival in HCV-associated B-NHL patients, especially those with MZL, suggesting that AT may enhance disease
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Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%).

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Background: Plasmodium falciparum immature gametocytes accumulate in the bone marrow, but their exact location in this tissue remains unclear.

Methods: The stage and deposition pattern of gametocytes was analysed on histological sections of a bone marrow sample collected in a patient with subacute P. falciparum malaria.

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Background: Chromosomal translocations are usually analyzed as a single entity, and are associated with a poor outcome in chronic lymphocytic leukemia. Translocations involving immunoglobulin genes are recurrent, but uncommon (<5%), and their individual prognosis is not clear. The two most frequent partners are BCL2 (18q21) and BCL3 (19q13).

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Background: Viral load in whole blood is the main virological marker for assessing HHV-6 infection and is used as an indication to begin antiviral therapy. Results are usually expressed as the number of genomic equivalent copies (gec) per mL of blood, although HHV-6 DNA in blood is mainly localized in lymphocytes and polymorphonuclear leukocytes.

Objectives: Since leukocyte counts vary in immunocompromised patients, especially in stem cell transplant recipients, the aim of this study was to compare HHV-6 load expressed as gec per mL with load expressed as gec per million cells (mc), using quantitative real-time PCR for HHV-6 and cell DNA.

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Several prognostic factors can predict the rapid progression in chronic lymphocytic leukaemia (CLL), including IGHV mutational status, cytogenetic abnormalities and, more recently, LPL/ADAM29 expression. In contrast, few studies have been devoted to the influence of these factors on clinical outcome in responding patients after therapy. We here propose to analyse the impact of IGHV gene status, LPL and ADAM29 gene expression on disease-free survival (DFS) and overall survival (OS) in 41 stage B or C CLL patients in remission after oral fludarabine plus cyclophosphamide.

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Article Synopsis
  • Activation of tyrosine kinase genes, like JAK2, is common in blood cancers, prompting researchers to look for mutations linked to high gene expression.
  • In a study of 90 acute leukemia cases, a new mutation called JAK2DeltaIREED was discovered in a Down syndrome patient with B-cell precursor acute lymphoblastic leukemia.
  • This mutation leads to constant activation of the JAK-STAT signaling pathway, suggesting its role in childhood lymphoid cancers and linking it to hematologic issues in individuals with Down syndrome.
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Article Synopsis
  • * A real-time quantitative PCR analysis of 127 CLL patients revealed that the expression of LPL and ADAM29, along with IGVH status and ZAP-70, can predict event-free survival, particularly indicating that L/A ratio serves as a better prognostic indicator than ZAP-70 in advanced stages of the disease.
  • * The LPL and ADAM29 gene expression can be assessed using a straightforward competition-based PCR assay, suggesting a practical approach for improving prognostic evaluation
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Synopsis of recent research by authors named "Catherine Settegrana"

  • - Catherine Settegrana's research primarily focuses on hematological disorders, particularly myeloid neoplasms and B-cell prolymphocytic leukemia, exploring genetic factors and prognostic indicators that impact patient outcomes.
  • - Her work includes significant findings on the implications of genetic abnormalities in B-PLL, emphasizing the complexity of karyotypes and identifying potential therapeutic targets, as well as examining prognostic factors such as the t(X;20)(q13;q13) translocation in myeloid neoplasms.
  • - Settegrana has also contributed to understanding diagnostic challenges in lymphoma, including the role of cerebrospinal fluid biomarkers and optimization of diagnostic methodologies to improve patient management in CNS lymphomas and other lymphoproliferative disorders.