Universitą degli studi di Pavia
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Cagioni research activity
As part of my PhD program in "Pathology and Medical Genetics", I am working on the mutational study of two pediatric genetically determined diseases: Juvenile Myelomonocytic Leukemia (JMML) and Familial Haemophagocytic Lymphohistiocytosis (FHL). Head of the project is the Prof. C. Danesino.
JMML is a rare clonal myeloproliferative/myelodisplastic disorder afflicting young children. There is a male predominance with a male:female ratio of 2:1. Patients present at a median age of 2 years with pallor, fever, infection, cough, marked splenomegaly, moderate hepatomegaly and skin rash.
About 80% of affected individuals harbor an oncogenic mutation in the Ras signaling genes PTPN11 (35%), NRAS or KRAS (20%), NF1 (15%) and CBL (10%).
We are working on the identification of timing of somatic mutation origin during hematopoietic stem cell maturation; search for patients with constitutional mutations in the same genes.
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. First episodes occur mostly during infancy, with a rapidly fatal outcome if untreated.
FHL exhibits genetic heterogeneity. In some families, FHL has been found to be linked to chromosome 9q (FHL1). FHL2 is caused by mutation in the PRF1 gene and FHL3 is caused by mutation in the MUNC13-4 gene. FHL4 is caused by mutation in the syntaxin-11 gene (STX11), and FHL5 is caused by mutation in the syntaxin-binding protein-2 (STXBP2), which is an interaction partner of STX11.
I am working on the identification of mutations/polymorphisms on exons 2 and 3 of PRF1 gene in a pool of individuals with clinical diagnosis of FHL2.
JMML is a rare clonal myeloproliferative/myelodisplastic disorder afflicting young children. There is a male predominance with a male:female ratio of 2:1. Patients present at a median age of 2 years with pallor, fever, infection, cough, marked splenomegaly, moderate hepatomegaly and skin rash.
About 80% of affected individuals harbor an oncogenic mutation in the Ras signaling genes PTPN11 (35%), NRAS or KRAS (20%), NF1 (15%) and CBL (10%).
We are working on the identification of timing of somatic mutation origin during hematopoietic stem cell maturation; search for patients with constitutional mutations in the same genes.
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. First episodes occur mostly during infancy, with a rapidly fatal outcome if untreated.
FHL exhibits genetic heterogeneity. In some families, FHL has been found to be linked to chromosome 9q (FHL1). FHL2 is caused by mutation in the PRF1 gene and FHL3 is caused by mutation in the MUNC13-4 gene. FHL4 is caused by mutation in the syntaxin-11 gene (STX11), and FHL5 is caused by mutation in the syntaxin-binding protein-2 (STXBP2), which is an interaction partner of STX11.
I am working on the identification of mutations/polymorphisms on exons 2 and 3 of PRF1 gene in a pool of individuals with clinical diagnosis of FHL2.
