scholarly journals Clinical, biological, and molecular genetic features of Richter syndrome and prognostic significance: a study of the French Innovative Leukemia Organization

2021 ◽  
Author(s):  
Charline Moulin ◽  
Francis Guillemin ◽  
Thomas Remen ◽  
Florian Bouclet ◽  
Sébastien Hergalant ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Prognostic Significance ◽  
Richter Syndrome ◽  
Genetic Features

Prognostic significance of initial clinical and molecular genetic features of acute promyelocytic leukemia (APL): Results from the North American Intergroup Trial, C9710

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 7016-7016 ◽  
Author(s):  
W. Stock ◽  
B. Moser ◽  
B. L. Powell ◽  
F. R. Appelbaum ◽  
M. S. Tallman ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Prognostic Significance ◽  
Transcript Level ◽  
Striking Difference ◽  
Prognostic Variables ◽  
The North ◽  
Genetic Features ◽  
Pre Treatment ◽  
Wbc Count ◽  
The Impact

7016 Background: The impact of previously defined prognostic variables can change with advances in treatment. Thus, the significance of initial clinical and molecular genetic features of APL were explored in the context of the first randomized trial designed to evaluate the potential benefit of adding As2O3 consolidation into front-line all-trans retinoic acid (ATRA)-based therapy of APL (Powell et al, ASCO 2007). Methods: We evaluated pre-treatment white blood cell (WBC) and platelet count, age, PML-RARA transcript level and isoform type in the first 180 untreated APL patients (pts) who underwent molecular analysis on C9710 and explored their relationship to disease- free (DFS) and overall survival (S). PML-RARA transcripts were measured using real-time quantitative RT-PCR and expressed as a normalized quotient (NQ) of PML-RARA/GAPDH. Results: Using a multivariate proportional hazard model, pre-treatment PML-RARA level and WBC count were independently associated with DFS; p = 0.0073 and p = 0.05, respectively. Pre-treatment WBC count was the only feature significantly associated with S; p<0.0001. With a median follow-up of 29 months, neither median DFS nor S have been reached and only 30 DFS events have been reported among these 180 pts. Pts with higher presenting WBC > 10K/μl had both shorter DFS and S with hazard ratios (HR) of 2.3 and 5.5, respectively. The relationships between treatment arm and pre-treatment WBC and PML-RARA transcript level were explored by categorical analyses. For non-As2O3-treated pts, a striking difference was observed in DFS at 2.5 years between those above or below cut-off values: WBC <10K, 78%; WBC >10K, 50%; NQ <median, 87%; NQ >median, 60%. For As2O3-treated pts smaller and the reverse differences were observed: WBC <10K, 94%; WBC >10K, no DFS events reported; NQ < median, 93%; NQ >median, no DFS events reported. Conclusion: These preliminary results (based on analysis of 31% of total C9710 pts) indicate that pre-treatment PML-RARA transcript level and WBC are prognostic variables for newly diagnosed APL pts in first remission treated with standard ATRA-based chemotherapy but suggest that they may not apply in pts receiving two 25-day courses of As2O3 as first consolidation. No significant financial relationships to disclose.

P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 626
Author(s):  
A. D’Amico ◽  
S. Petrini ◽  
F. Fattori ◽  
M. Verardo ◽  
R. Boldrini ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Vacuolar Myopathy ◽  
Genetic Features ◽  
Rimmed Vacuolar Myopathy

scholarly journals Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

2001 ◽  
Vol 345 (5) ◽  
pp. 325-334 ◽  
Author(s):  
Richard C. Trembath ◽  
Jennifer R. Thomson ◽  
Rajiv D. Machado ◽  
Neil V. Morgan ◽  
Carl Atkinson ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Molecular Genetic ◽  
Genetic Features

Clinical and molecular genetic features of ARC syndrome

2006 ◽  
Vol 120 (3) ◽  
pp. 396-409 ◽  
Author(s):  
Paul Gissen ◽  
Louise Tee ◽  
Colin A. Johnson ◽  
Emmanuelle Genin ◽  
Almuth Caliebe ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Features ◽  
Arc Syndrome

scholarly journals Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

2008 ◽  
Vol 24 (3) ◽  
pp. 741-747 ◽  
Author(s):  
D. Lim ◽  
S. C. Bowdin ◽  
L. Tee ◽  
G. A. Kirby ◽  
E. Blair ◽  
...  
Keyword(s):  
Assisted Reproductive Technologies ◽  
Molecular Genetic ◽  
Reproductive Technologies ◽  
Genetic Features

scholarly journals Prognostic Significance of PET/CT in Patients with Chronic Lymphocytic Leukemia (CLL) Treated with Frontline Chemoimmunotherapy

Cancers ◽  
2020 ◽  
Vol 12 (7) ◽  
pp. 1773 ◽  
Author(s):  
Marika Porrazzo ◽  
Emanuele Nicolai ◽  
Mara Riminucci ◽  
Candida Vitale ◽  
Marta Coscia ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Chronic Lymphocytic Leukemia ◽  
Negative Impact ◽  
Prognostic Significance ◽  
Lymphocytic Leukemia ◽  
Independent Effect ◽  
Proliferating Cells ◽  
Richter Syndrome ◽  
Increased Risk ◽  
Pet Ct

The role of positron emission tomography/computed tomography (PET/CT) in identifying Richter Syndrome (RS) is well established, while its impact on the survival of patients with chronic lymphocytic leukemia (CLL) has been less explored. The clinical characteristics and PET/CT data of 40 patients with a biopsy-proven CLL who required frontline chemoimmunotherapy, FCR (fludarabine, cyclophosphamide, rituximab) in 20 patients, BR (bendamustine, rituximab) in 20, were retrospectively analyzed. Standardized uptake volume (SUVmax) values ≥ 5 were observed more frequently in patients with deletion 11q (p = 0.006) and biopsies characterized by a rate of Ki67 positive cells ≥ 30% (p = 0.02). In the multivariate analysis, the presence of large and confluent PCs emerged as the only factor with a negative impact on progression-free survival (PFS), and overall survival (OS). Deletion 11q also revealed a significant and independent effect on PFS. SUVmax values ≥ 5 showed no statistical impact on PFS while in multivariate analysis, they revealed a significant adverse impact on OS (median survival probability not reached vs. 56 months; p = 0.002). Moreover, patients with higher SUVmax values more frequently developed Richter Syndrome (p = 0.015). Our results show that higher SUVmax values identify CLL patients with a pronounced rate of proliferating cells in the lymph-node compartment, inferior survival, and an increased risk of developing RS.

Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families

2017 ◽  
Vol 32 (5) ◽  
pp. 1609-1618 ◽  
Author(s):  
Chen Chen ◽  
Yue Zhang ◽  
Hui Wu ◽  
Yi-Min Sun ◽  
Ye-Hua Cai ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Cerebrotendinous Xanthomatosis ◽  
Chinese Families ◽  
Genetic Features

Immunohistopathological and molecular genetic features of a case in which gastrointestinal stromal tumor recurred five times

2004 ◽  
Vol 54 (3) ◽  
pp. 196-200 ◽  
Author(s):  
Tsukasa Inoue ◽  
Takashi Suzuki ◽  
Kunitoshi Nakagawa ◽  
Yoshimochi Kurokawa ◽  
Susumu Satomi ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Molecular Genetic ◽  
Stromal Tumor ◽  
Genetic Features
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