Li-Fraumeni syndrome: a germline splice variant reveals a novel physiological alternative transcript.

Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.

Prediction of the need of enteral nutrition during radiation therapy for head and neck cancers.

Introduction: Patients with a head and neck (HN) cancer undergoing radiotherapy risk critical weight loss and oral intake reduction leading to enteral nutrition. We developed a predictive model for the need for enteral nutrition during radiotherapy in this setting. Its performances were reported on a real-world multicentric cohort.

Primary central nervous system lymphoma of the spinal cord: A LOC network cohort study.

Purpose: Primary central nervous system lymphoma (PCNSL) mainly affects the brain (>90% cases); there are very little data pertaining to PCNSL involving the spinal cord.

Methods: We retrospectively selected from the French LOC network database adult immunocompetent patients diagnosed with PCNSL involving the spinal cord between 2011 and 2022.

Results: Of the 2043 patients records retrieved from the database, 16 patients (median age: 62.

Combining Total Metabolic Tumor Volume With Beta-2-Microglobulin Levels Predicts Outcomes in High-Burden Follicular Lymphoma Patients.

We aimed to explore the predictive value of total metabolic tumor volume (TMTV) and beta-2-microglobulin (B2M) levels in patients with follicular lymphoma (FL) with a high tumor burden receiving standard first-line immunochemotherapy. We analyzed 125 patients with the following characteristics: median age, 61 years (55; 67), advanced-stage disease, 88.8%; high FLIPI, 49.

Serous-like breast carcinomas: immunophenotypic, genetic, and clinicopathologic characterization of a morphologically distinct group of tumours.

Aims: Unusual morphologic patterns of breast carcinomas can raise diagnostic consideration for metastasis or special breast cancer subtypes with management implications. We describe rare invasive breast cancers that mimic serous carcinoma of the gynaecologic tract (serous-like breast carcinomas, SLBC) and characterize their clinicopathologic, immunophenotypic, and genetic features.

Methods And Results: All patients were female (n = 15, median age 49 years) without a history of gynaecologic malignancy.

Thyroidectomy without radioiodine in patients with low-risk thyroid cancer: 5 years of follow-up of the prospective randomised ESTIMABL2 trial.

Background: ESTIMABL2, a multicentre randomised phase 3 trial in patients with low-risk differentiated thyroid cancer (ie, pT1am or pT1b, N0 [no evidence of regional nodal involvement] or Nx [involvement of regional lymph nodes that cannot be assessed in the absence of neck dissection]), showed the non-inferiority of a follow-up strategy without radioactive iodine (I) administration compared with a postoperative I administration at 3 years post-randomisation. Here, we report a pre-specified analysis after 5 years of follow-up.

Methods: Patients treated with total thyroidectomy with or without prophylactic neck lymph node dissection, without postoperative suspicious findings on neck ultrasonography, were randomly assigned to the no-radioiodine group or to the radioiodine group (1·1 GBq-30 mCi after recombinant human thyrotropin-stimulating hormone).

Oncological outcomes of patients with muscle-invasive bladder cancer treated with trimodal strategy: A French multicentric study.

Purpose: Trimodal therapy, an organ-sparing alternative, may be proposed for selected patients with muscle-invasive bladder cancer instead of radical cystectomy. In this multicentre retrospective study, we aimed to assess the oncological outcomes of patients who had trimodal therapy for a muscle-invasive bladder cancer.

Materials And Methods: Seventy-three patients from four centres treated who had trimodal therapy (maximal transurethral resection of bladder tumour and concomitant chemoradiotherapy) for localized muscle-invasive bladder cancer were included.

The clinical impact of EGFR alterations in elderly glioblastoma patients: results from a real-life cohort.

Background: The incidence of glioblastoma in the elderly population is increasing as the worldwide population ages. The differential and poorer survival in the elderly population compared to younger patients is partially explained. The present study aimed to investigate the clinical impact of epidermal growth factor receptor EGFR-altered glioblastoma in a real-life elderly glioblastoma population.

On the trail of CBCT-guided adaptive rectal boost radiotherapy, does daily delineation require a radiation oncologist?

Introduction: Dose-escalation radiotherapy for rectal tumours is increasingly considered as a non-operative approach, with online-adaptive radiotherapy (oART) supporting this approach by correcting inter-fraction tumour position errors. However, using cone-beam computed tomography (CBCT)-guided oART requires daily target volume delineation by different operators, leading to inter-operator delineation variability and potential dosimetric issues. This study aims to compare and quantify the inter-operator and inter-professional delineation variability of the rectal boost volume on CBCT, including volumes by an automatically delineated oART treatment planning system.

[Difpad-Onco offers frailty screening by private practice nurses for elderly cancer patients].

Difpad-Onco (nursing screening of the frailty of elderly people, at home, with oncological disease) aims to facilitate and complement the identification of frailties in elderly cancer patients by private practice nurses in the patient's home. It consists of the G8 Oncodage, a Mini-Cog screening for cognitive impairment, a history of falls, and social frailty. It is aimed at all cancer patients aged 70 and over.

Classic Hodgkin Lymphoma: The LYSA pragmatic guidelines.

Classic Hodgkin lymphoma (HL) is a distinct entity among hematological malignancies of B-cell origin. It is characterized by its unique histopathological features and generally favorable prognosis. Over the years, advancements in understanding its pathogenesis, coupled with refined diagnostic and evaluation modalities, as well as therapeutic strategies, have significantly transformed the landscape of HL management.

Six-year follow-up of phase II study exploring chemo-free treatment association with idelalisib and obinutuzumab in symptomatic relapsed/ refractory patients with Waldenström's macroglobulinemia.

We present the 6-year update of a phase 2 study evaluating the combination of obinutuzumab and idelalisib in relapse/refractory Waldenstrom macroglobulinemia. The results of the REMODEL trial demonstrated interesting efficacy in a high-risk genotype profile population. The primary endpoint was achieved with a median PFS of 25.

Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS: Distinguishing TAM-DS and ML-DS: Report of 4 Cases.

Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene.

Concordance between late effects reported by physicians and patients in a cohort of long-term Hodgkin lymphoma survivors: an analysis of data from nine consecutive EORTC-LYSA trials.

Purpose: Studies looking into the concordance between late effects reported by physicians vs. those reported by Hodgkin lymphoma (HL) survivors are missing.

Methods: A Life Situation Questionnaire focusing on late effects collected data from 1230 HL survivors (median follow-up 14.

Inotuzumab Ozogamicin and Low-Intensity Chemotherapy in Older Patients With Newly Diagnosed CD22 Philadelphia Chromosome-Negative B-Cell Precursor Acute Lymphoblastic Leukemia.

Purpose: The use of inotuzumab ozogamicin (InO), a conjugated anti-CD22 monoclonal antibody, is becoming a promising frontline treatment for older patients with ALL.

Patients And Methods: EWALL-INO is an open-label prospective multicenter phase II trial (ClinicalTrials.gov identifier: NCT03249870).

Metabolic remodeling in glioblastoma: a longitudinal multi-omics study.

Monitoring tumor evolution and predicting survival using non-invasive liquid biopsy is an unmet need for glioblastoma patients. The era of proteomics and metabolomics blood analyzes, may help in this context. A case-control study was conducted.