Publications by authors named "Julie Lachenaud"
Article Synopsis
- Juvenile myelomonocytic leukemia (JMML) is a rare childhood cancer linked to mutations in the RAS gene, with a significant portion of cases showing additional genetic abnormalities.
- Genetic analysis revealed that JMML cases can involve multiple RAS pathway mutations, challenging the idea that these mutations are mutually exclusive, and identified new pathways that may contribute to the disease.
- The study also found that the loss of the PRC2 complex affects gene expression regulation in JMML, and there is a connection between the genetic mutations and the aggressiveness of the disease, indicating that more active RAS signaling correlates with faster disease progression.
Background: Infants with Noonan syndrome (NS) are predisposed to developing juvenile myelomonocytic leukaemia (JMML) or JMML-like myeloproliferative disorders (MPD). Whereas sporadic JMML is known to be aggressive, JMML occurring in patients with NS is often considered as benign and transitory. However, little information is available regarding the occurrence and characteristics of JMML in NS.
View Article and Find Full Text PDFBackground: Exophiala species are mostly responsible for skin infections. Invasive Exophiala dermatitidis disease is a rare and frequently fatal infection, with 42 cases reported. About half of these cases had no known risk factors.
View Article and Find Full Text PDFJuvenile myelomonocytic leukemias (JMML) are rare but severe myelodysplastic and myeloproliferative neoplasms of infancy. They represent about 10 new cases per year in France and preferentially affect males. JMML are all stem cell diseases the common denominator of which is RAS pathway dysregulation, due to mutations in RAS (NRAS, KRAS) or RAS regulatory components (PTPN11, NF1 or CBL).
View Article and Find Full Text PDFJMML and CMML are rare myelodysplastic/myeloproliferative neoplasms occurring at both ends of life. To investigate relationships between JMML and CMML, genes recently involved in CMML were studied in 68 JMML patients. Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative syndromes, and more specifically in CMML but were not found in JMML.
View Article and Find Full Text PDFWe describe two cases of aseptic meningitis occurring some time after pneumococcal meningitis. Both cases may have resulted from an inflammatory response to persistent pneumococcal cell membrane components, as the cerebrospinal fluid samples were positive by the Binax NOW Streptococcus pneumoniae antigen test. Potential mechanisms and diagnostic impact are discussed.
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