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CLL diagnosis

Davide Rossi
Richter's syndrome (RS) is the development of an aggressive lymphoma in patients with a previous or concomitant diagnosis of chronic lymphocytic leukemia (CLL). The incidence rate for RS is ∼0.5% per year of observation. In the presence of clinical suspicious of RS, diagnosis of transformation and choice of the site of biopsy may take advantage of (18)FDG PET/CT. Molecular lesions of tumor suppression regulators (TP53), cell cycle (CDKN2A) and cell proliferation (NOTCH1, MYC) overall account for ∼90% of RS and may be responsible for its aggressive clinical phenotype...
March 2016: Best Practice & Research. Clinical Haematology
Emili Montserrat, Tycho Bauman, Julio Delgado
Medicine has been 'personalized' (i.e. centred in persons) since its foundation. Recently, however, the term 'personalized medicine' (or, better, 'precision medicine') has been introduced to define 'a form of medicine that uses information about a person's genes, proteins, and environment to prevent, diagnose, and treat disease'. This concept has gained momentum thanks to next-generation-sequencing (NGS) techniques that allow identification of molecular characteristics unique to the patient and to the tumour...
March 2016: Best Practice & Research. Clinical Haematology
F Kron, N Kutsch, A Kostenko, I Dohle, J Glossmann, D Müller, S M Heimann, J Bahlo, M von Bergwelt-Baildon, B Eichhorst, J Wolf, M Hallek, T Zander
OBJECTIVES: Treatment of chronic lymphocytic leukemia (CLL) is currently undergoing dramatic changes. We analyzed economic risks in hospitalized CLL patients from a management perspective. METHODS: 112 CLL patients hospitalized in 2013 and 2014 at the University Hospital of Cologne were analyzed. To assess profit margins (PM) per case, Diagnosis Related Groups (DRG) reimbursement data were merged with an internal cost-accounting scheme depending on age, prognostic factors and DRG key performance indicators...
October 11, 2016: European Journal of Haematology
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Claudia Brunetti, Luisa Anelli, Antonella Zagaria, Angela Minervini, Paola Casieri, Nicoletta Coccaro, Giuseppina Tota, Luciana Impera, Annamaria Giordano, Giorgina Specchia, Francesco Albano
BACKGROUND: The assessment of TP53 mutational status is becoming a routine clinical practice for chronic lymphocytic leukemia patients (CLL). A broad spectrum of molecular techniques has been employed so far, including both direct Sanger sequencing and next generation sequencing. Oxford Nanopore Technologies recently released the MinION an USB-interfaced sequencer. In this paper we report our experience, with the MinION technology for the detection of the TP53 gene mutation in CLL patients...
October 10, 2016: Diagnostic Pathology
Isabel González-Gascón Y Marín, Ana África Martín, María Hernández-Sanchez, Cristina Robledo, María Lourdes Hermosín, Natalia de Las Heras, Laura Lacalle, Josefina Galende, Felipe de Arriba, Ana Eugenia Rodríguez-Vicente, José-Ángel Hernández, Jesús María Hernández-Rivas
: The presence of chromosomal gains other than trisomy 12 in chronic lymphocytic leukaemia (CLL) is unusual. However, some patients may show gains on several chromosomes simultaneously suggesting a hyperdiploid karyotype. OBJECTIVE: The objective of this study was to analyse by FISH the frequency and prognostic impact of hyperdiploidy in CLL. METHOD: A review of 1359 consecutive cases diagnosed with CLL referred for FISH analysis to a unique institution was carried out...
September 26, 2016: European Journal of Haematology
S Fathullahzadeh, H Mirzaei, M A Honardoost, A Sahebkar, M Salehi
Chronic lymphocytic leukemia (CLL) is known as the most common lymphoid malignancy in the Western world. MicroRNAs (miRNAs) are a class of small noncoding RNAs with pivotal roles in cellular and molecular processes related to different malignancies including CLL. Recently, some studies have shown that miR-192 plays a key role in CLL pathogenesis through increasing CDKN1A/p21 levels, suppression of Bcl-2 and enhancement of wild-type P53 and cell cycle arrest. Forty samples, including 20 patients with CLL, diagnosed in Omid hospital (Isfahan, Iran) and 20 healthy controls were sampled during a period of 4 months...
September 23, 2016: Cancer Gene Therapy
Fahimeh Asadi-Amoli, Zohreh Nozarian, Hirbod Nasiri Bonaki, Vahid Mehrtash, Samaneh Entezari
BACKGROUND: The most common type of ocular lymphoma is non-Hodgkin lymphoma (NHL), categorized into two groups: indolent (slow growing) and aggressive (rapid growing). Differentiating benign reactive lymphoid hyperplasia (RLH) from malignant ocular adnexal lymphoma (OAL) is challenging. Histopathology, immunohistochemistry (IHC) and ow cytometry have been used as diagnostic tools in such cases. MATERIALS AND METHODS: In this retrospective case series, from 2002 to 2013 at Farabi Eye Center, 110 patients with ocular lymphoproliferative disease were enrolled...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Eman Al Mussaed, Hani Osman, Ghaleb Elyamany
BACKGROUND: The simultaneous Occurrence of chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) has been rarely reported. Most of these cases have been occurring more frequently as a secondary event in patients receiving chemotherapeutic agents for CLL. CASE PRESENTATION: We describe a case of a 77-year-old man who presented with fatigue, pallor and lower limb pain and weakness. Initial laboratory studies showed Hb 7.7 g/dl, WBC 279.6 × 10(9)/1, PLT 143× 10(9)/1...
2016: BMC Cancer
Gian Matteo Rigolin, Elena Saccenti, Cristian Bassi, Laura Lupini, Francesca Maria Quaglia, Maurizio Cavallari, Sara Martinelli, Luca Formigaro, Enrico Lista, Maria Antonella Bardi, Eleonora Volta, Elisa Tammiso, Aurora Melandri, Antonio Urso, Francesco Cavazzini, Massimo Negrini, Antonio Cuneo
BACKGROUND: In chronic lymphocytic leukemia (CLL), next-generation sequencing (NGS) analysis represents a sensitive, reproducible, and resource-efficient technique for routine screening of gene mutations. METHODS: We performed an extensive biologic characterization of newly diagnosed CLL, including NGS analysis of 20 genes frequently mutated in CLL and karyotype analysis to assess whether NGS and karyotype results could be of clinical relevance in the refinement of prognosis and assessment of risk of progression...
September 15, 2016: Journal of Hematology & Oncology
Artur César, Ana Calistru, Joana Pardal, Sofia Magina, Alberto Mota, Filomena Azevedo
Richter syndrome (RS) is characterized by the development of a high-grade lymphoma in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Herein, we present the case of an 85-year-old woman with a 3-year history of stable asymptomatic CLL that developed a cutaneous RS. The patient presented with painless inflammation in the left leg and foot that was initially diagnosed as a cellulitis infection. She was treated accordingly with ceftriaxone and clindamycin. However, after completing the antibiotic regimen, not only did the inflammation persist, but also superimposed painless nodules gradually appeared on the left leg and foot over the course of four months...
2016: Dermatology Online Journal
Silvia Sánchez-Ramón, Fatima Dhalla, Helen Chapel
Patients with chronic lymphocytic leukemia (CLL) and multiple myeloma (MM) are prone to present with antibody production deficits associated with recurrent or severe bacterial infections that might benefit from human immunoglobulin (Ig) (IVIg/SCIg) replacement therapy. However, the original IVIg trial data were done before modern therapies were available, and the current indications do not take into account the shift in the immune situation of current treatment combinations and changes in the spectrum of infections...
2016: Frontiers in Immunology
P J Holmes, S C Peiper, G K Uppal, J Z Gong, Z-X Wang, R Bajaj
INTRODUCTION: Chronic lymphocytic leukaemia (CLL) is the most prevalent leukaemia in the Western Hemisphere. Cytogenetic abnormalities in CLL are used for diagnosis, prognosis and treatment. However, detecting these is difficult because mature B cells do not readily divide in culture. Here, we present data on two mitogen cocktails: CpG-oligonucleotide DSP30/Interleukin-2 (IL-2) and DSP30/IL-2 in combination with 12-O-tetradecanoylphorbol-13-acetate (TPA). METHODS: We analysed 165 cases of CLL with FISH and cytogenetics from January 2011 to June 2013...
October 2016: International Journal of Laboratory Hematology
Min Wang, Li-Ru Wang
Ki-67 antigen expression is closely associated with the cell cycle. Its expression is in almost the entire mitosis in cell cycle. Detection of Ki-67 antigen can reflect the cell proliferation activity in hematological malignancies. Detection of Ki-67 has been widely applied in staging, therapy effect monitoring and prognosis judgment in lymphoma. There has been a lot of studies investigating the expression of Ki-67 in acute lymphocytic leukemia (ALL) and chronic lymphocytic leukemia (CLL), and investigating the relevance between Ki-67 expression and therapy effect and prognosis...
August 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
Elif Gülsüm Ümit, Figen Kuloğlu, Ahmet Muzaffer Demir
BACKGROUND: Vancomycin resistant enterococci (VRE) are common pathogens of hospital-acquired infection. Long hospitalization periods, use of broad-spectrum antibiotics and immunosuppression are major risks for VRE colonization. AIMS: We aimed to evaluate patients' characteristics and factors which may contribute to VRE colonization. METHODS: Data of 66 patients with colonization and 112 patients without colonization who have been hospitalized in the Hematology clinic were collected...
August 16, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Swaty Arora, Daniel Levitan, Narottam Regmi, Gurinder Sidhu, Raavi Gupta, Anthony D Nicastri, Subodh J Saggi, Albert Braverman
The incidence of glomerulonephritis, as a manifestation of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), has always been considered low. Though renal infiltration is usually detected at post-mortem, it does not often interfere with kidney function [1]. Though immunoglobulin (Ig) levels in most CLL patients are subnormal, small monoclonal Ig peaks are occasionally detected in serum. They were present in a number of reported CLL nephropathy patients, and not all were cryoglobulins; serum and glomerular staining were concordant for Ig type [2,3,4]...
September 2016: Blood Cells, Molecules & Diseases
Ans Rombout, Bruno Verhasselt, Jan Philippé
Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease characterized by the accumulation of a clonal population of B cells in peripheral blood, bone marrow, and lymphoid organs. More than 10 years ago, lipoprotein lipase (LPL) mRNA was identified as being strongly expressed in patients experiencing a more aggressive phenotype, while CLL patients with an indolent disease course lack expression of this marker. Since then, several reports confirmed the capability of LPL to predict CLL disease evolution at the moment of diagnosis...
November 2016: European Journal of Haematology
Inhye E Ahn, Theresa Jerussi, Mohammed Farooqui, Xin Tian, Adrian Wiestner, Juan Gea-Banacloche
Ibrutinib is not known to confer risk for Pneumocystis jirovecii pneumonia (PCP). We observed 5 cases of PCP in 96 patients receiving single-agent ibrutinib, including 4 previously untreated. Clinical presentations included asymptomatic pulmonary infiltrates, chronic cough, and shortness of breath. The diagnosis was often delayed. Median time from starting ibrutinib to occurrence of PCP was 6 months (range, 2-24). The estimated incidence of PCP was 2.05 cases per 100 patient-years (95% confidence interval, 0...
October 13, 2016: Blood
Carol Lozano-Santos, José A García-Vela, Nuria Pérez-Sanz, Sara Nova-Gurumeta, Belen Fernandez-Cuevas, Natalia Gomez-Lozano, Margarita Sánchez-Beato, Pedro Sanchez-Godoy, José Luis Bueno, José A Garcia-Marco
The prognostic impact of biallelic ATM abnormalities (ATM mutation and concurrent 11q deletion) remains unknown. We studied ATM, BIRC3, SF3B1, and NOTCH1 genes in 118 treatment-naïve CLL patients at diagnosis. Patients with biallelic ATM alteration had a similar time to first treatment (TTFT) and shorter overall survival (OS) compared with patients with isolated 11q deletion and shorter TTFT and OS when compared to patients with wild-type ATM. Furthermore, biallelic ATM alteration (HR: 6.4; p ≤ 0.007) was significantly associated with an increased risk of death similar to p53 deletion (HR: 6...
August 8, 2016: Leukemia & Lymphoma
Stefano Molica, Tait D Shanafelt, Diana Giannarelli, Massimo Gentile, Rosanna Mirabelli, Giovanna Cutrona, Luciano Levato, Nicola Di Renzo, Francesco Di Raimondo, Caterina Musolino, Francesco Angrilli, Angelo Famà, Anna Grazia Recchia, Kari G Chaffee, Antonino Neri, Neil E Kay, Manlio Ferrarini, Fortunato Morabito
The chronic lymphocytic leukemia International Prognostic Index (CLL-IPI) combines 5 parameters (age, clinical stage, TP53 status [normal vs. del(17p) and/or TP53 mutation], IGHV mutational status, serum β2-microglobulin) to predict survival and time-to-first-treatment (TTFT) in CLL patients. We performed an observational study in 337 prospectively collected, Binet stage A patients to validate the ability of the CLL-IPI to predict TTFT in an independent cohort of early stage CLL patients. The CLL-IPI score stratified Binet stage A patients into three subgroups with different outcome...
July 27, 2016: American Journal of Hematology
Burak Uz, Ilhan Dolasik, Ozlem Ucer, Adile Ferda Dagli, Sercan Simsek
In the present report, a 73 years-old male patient who developed clear cell type renal cell carcinoma (RCC) 5 years after the diagnosis of chronic lymphocytic lymphoma (CLL) and plausible explanations for this association were discussed by the authors. The incidence of CLL and RCC occurring in the same patient is higher than that expected in the general population. Various explicative hypotheses of this concurrence include treatment-related development of a second malignancy, immunomodulatory mechanisms, viral aetiology, cytokine (interleukin 6) release from a tumor, and common genetic mutations...
2016: Leukemia Research Reports
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