Publications by authors named "Marie-Pierre Castex"

Purpose: Describe clinical characteristics and outcome of Li-Fraumeni syndrome (LFS)-associated osteosarcomas.

Methods: TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identified via the French Li-Fraumeni database at Rouen University Hospital. Sixty-five osteosarcomas in 52 patients with available clinical and histological data were included.

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Article Synopsis
  • - The Ewing Sarcoma Family of Tumors (ESFT) includes rare cancers, with a significant portion showing metastatic spread, especially affecting bone and bone marrow, which worsens prognosis and necessitates stronger treatments.
  • - The French phase II COMBINAIR3 study compared the effectiveness of PET/CT to traditional bone marrow aspiration and biopsy (BMAB) for staging extra-pulmonary metastatic ESFT in 42 patients.
  • - Results indicated that PET/CT had high specificity (100%) and notable sensitivity (83.3%) in detecting bone marrow involvement, suggesting it can replace BMAB for initial staging, thereby enhancing treatment planning for high-risk ESFT patients.
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The assessment of chemotherapy response in osteosarcoma (OS) based on the average percentage of viable cells is limited, as it overlooks the spatial heterogeneity of tumor cell response (foci of resistant cells), immune microenvironment, and bone microarchitecture. Despite the resulting positive classification for response to chemotherapy, some patients experience early metastatic recurrence, demonstrating that our conventional tools for evaluating treatment response are insufficient. We studied the interactions between tumor cells, immune cells (lymphocytes, histiocytes, and osteoclasts), and bone extracellular matrix (ECM) in 18 surgical resection samples of OS using multiplex and conventional immunohistochemistry (IHC: CD8, CD163, CD68, and SATB2), combined with multiscale characterization approaches in territories of good and poor response (GRT/PRT) to treatment.

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  • Choriocarcinoma in neonates and infants (N-CC) is a rare but aggressive cancer often linked with maternal disease, with a median patient age of 6 weeks.
  • A study analyzing eight cases revealed that all tumors were diffuse, and most patients underwent a platinum-based treatment regimen, with some requiring surgery for residual tumors.
  • Despite a poor overall outcome, including half of the patients dying from the disease, four patients achieved complete remission, highlighting the potential for successful treatment through multimodal therapy.
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Objectives: The neurotrophic tyrosine receptor kinase (NTRK) fusion transcript (FT) is a major genetic landmark of infantile fibrosarcoma (IFS) and cellular congenital mesoblastic nephroma (cCMN) but is also described in other tumours. The recent availability of NTRK-targeted drugs enhances the need for better identification. We aimed to describe the anatomic locations and imaging features of tumours with NTRK-FT in children.

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Acute splenic sequestration crisis (ASSC) is a potentially life-threatening complication of sickle cell disease (SCD), typically occurring in young patients under 5 years of age, with a median age at first episode of less than 2 years. Because a beneficial effect of hydroxyurea (HU) on spleen perfusion and splenic function has been suspected, we hypothesized that HU treatment might be associated with later onset of ASSC in patients with SCD. To investigate this hypothesis, we analyzed data from the ESCORT-HU study on a large cohort of patients with SCD receiving HU, enrolled between January 2009 and June 2017 with a follow-up of 7309 patient-years of observation.

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We recently proposed an equation to estimate the glomerular filtration rate (GFR) in children with cancer based on plasma cystatin C and serum creatinine levels together with body weight (the "CysPed equation"). The current clinical study reports a prospective evaluation of this equation in 18 children treated by nephrotoxic chemotherapy. The CysPed equation resulted in less bias and greater precision compared to two equations previously proposed equations by Schwartz, with or without plasma cystatin C.

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Background: The initial management of patients with sarcoma is a critical issue. We used the nationwide French National Cancer Institute-funded prospective sarcoma database NETSARC to report the management and oncologic outcomes in adolescents and young adults (AYAs) patients with sarcoma at the national level.

Patients And Methods: NETSARC database gathers regularly monitored and updated data from patients with sarcoma.

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The diagnosis of hemoglobinopathy is based on a range of arguments: clinic, results of a blood count, the haemoglobin study and possibly a genetic study of the globin chains. The interpretation of these profiles can be complicated, especially in newborns due to the ontogenesis of globin genes. The clinical impact can range from simple microcytosis without anemia to severe anemia requiring iterative transfusions and various clinical symptoms depending on the number and type of chains produced.

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Article Synopsis
  • - Sickle cell disease (SCD) is a common genetic disorder caused by a mutation in the beta-globin chain, leading to distorted red blood cells and various severe health complications, including pain crises and infections.
  • - Corticosteroids, although widely used for their anti-inflammatory properties and low cost, have well-documented adverse effects that may be particularly harmful to SCD patients, including inducing pain crises and increased hospitalizations.
  • - Recent research suggests that high doses of corticosteroids do not provide benefits for acute SCD events, prompting the need for alternative preventive treatments like hydroxyurea or blood transfusions when corticosteroids are necessary.
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In Euro-EWING99-R1 randomized trial, cyclophosphamide was shown to be noninferior to ifosfamide in the consolidation of standard-risk Ewing sarcoma (SR-EWS) after a common induction with VIDE (vincristine-ifosfamide-doxorubicin-etoposide). We present the results of the late effects analysis of VAC (vincristine-dactinomycin-cyclophoshamide) vs VAI (vincristine-dactinomycin-ifosfamide) conducted in Euro-EWING99-R1 French cohort. Of 267 French randomized patients, 204 were alive and free-of-relapse at 5-years including 172 with available long-term follow-up data concerning cardiac, renal and/or gonadal functions (sex-ratio M/F = 1.

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Objective: Regarding the efficiency of Bu-Mel-based high-dose-chemotherapy (Bu-Mel-HDCT) and whole lung irradiation (WLI), the objective was to evaluate the efficiency and safety of this salvage sequence in Ewing sarcoma (ES) lung relapses.

Methods: All eligible pediatric ES patients (1991-2020) identified in SFCE departments were retrospectively reviewed. Seven patients were (1) diagnosed with a pulmonary relapse, isolated or not, (2) naïve from both HCDT and WLI (3) treated by the salvage sequence of conventional chemotherapy, Bu-Mel-HDCT and WLI.

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Purpose: Childhood RMS is a rare malignant disease in which evaluation of tumour spread at diagnosis is essential for therapeutic management. F-18 FDG-PET imaging is currently used for initial RMS disease staging.

Materials And Methods: This multicentre retrospective study in six French university hospitals was designed to analyse the prognostic accuracy of MTV at diagnosis for patients with RMS between 1 January 2007 and 31 October 2017, for overall (OS) and progression-free survival (PFS).

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Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRT ) on a background of a remarkably stable genome, a low mutational burden, and no other recurrent mutations. Rarely, ECRTs can harbour the alternative inactivation of SMARCA4 (ECRT ) instead of SMARCB1.

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Article Synopsis
  • The study focused on analyzing relapse patterns in osteosarcoma patients from the OS2006/Sarcome-09 trial to inform future clinical trial designs.
  • Out of 157 patients who relapsed after achieving initial complete remission, most relapses were metastatic, with a median time to relapse of 1.7 years; treatments often included systemic therapy and surgery.
  • The findings suggest conducting randomized phase-II trials that accommodate all age groups and patients regardless of measurable disease status, prioritizing progression-free survival as the main endpoint.
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Background: Treatment of extremity rhabdomyosarcomas (RMS) includes chemotherapy, surgery, and radiotherapy. Lymph node irradiation is recommended in the presence of regional node involvement at diagnosis. The aim of this study was to analyze the correlation between the pattern of relapse of non-metastatic extremity RMS and the initial therapies delivered.

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Rhabdomyosarcoma (RMS) encompasses a heterogenous collection of tumors in which new groups have recently been identified that improved the World Health Organization (WHO) classification. While performing RNA-sequencing in our routine practice, we identified 3 cases of well-differentiated RMS harboring new fusion genes. We also analyzed these tumors through array-comparative genomic hybridization.

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Background: The role of high-dose chemotherapy in relapsing osteosarcomas has not been established. We evaluated the efficacy and tolerance of high-dose thiotepa (HDTp) after standard chemotherapy (SCT) in patients with relapsed osteosarcoma.

Patients And Methods: This randomised open-label phase II study enrolled patients 1-50 years, with local or metastatic relapse of a high-grade osteosarcoma, not progressive after two cycles of SCT, for whom a complete surgery can be achievable following treatment.

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Rhabdomyosarcomas with TFCP2 fusions represent an emerging subtype of tumors, initially discovered by RNA-sequencing. We report herein the clinicopathological, transcriptional, and genomic features of a series of 14 cases. Cases were retrospectively and prospectively recruited and studied by immunohistochemistry (MYF4, MYOD1, S100, AE1/E3, ALK), fluorescence in situ hybridization with TFCP2 break-apart probe (n = 10/14), array-comparative genomic hybridization (Agilent), whole RNA-sequencing (Truseq Exome, Illumina), or anchored multiplex PCR-based targeted next-generation sequencing (Archer® FusionPlex® Sarcoma kit).

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Purpose: The aim of this study was to retrospectively study survival and long-term morbidities of children with nasopharyngeal carcinoma (NPC) treated by induction chemotherapy and concurrent chemoradiation (CRT). The total dose of radiation was adapted to the response following neoadjuvant chemotherapy.

Methods: Children with non-metastatic NPC treated in France between 1999 and 2015 were retrospectively included in the study.

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Purpose For over 30 years, the place of consolidation high-dose chemotherapy in Ewing sarcoma (ES) has been controversial. A randomized study was conducted to determine whether consolidation high-dose chemotherapy improved survival in patients with localized ES at high risk for relapse. Methods Randomization between busulfan and melphalan (BuMel) or standard chemotherapy (vincristine, dactinomycin, and ifosfamide [VAI], seven courses) was offered to patients if they were younger than 50 years of age with poor histologic response (≥ 10% viable cells) after receiving vincristine, ifosfamide, doxorubicin, and etoposide (six courses); or had a tumor volume at diagnosis ≥ 200 mL if unresected, or initially resected, or resected after radiotherapy.

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