Publications by authors named "M Pigazzi"

Article Synopsis
  • Several genomic subsets of mutations in acute myeloid leukemia (AML) patients were studied to understand their impact on outcomes and the underlying biology, revealing that type D mutations correlated with poorer survival rates compared to other types.
  • In a cohort of over 4,000 patients, a study found that those with type A, B, and rare variants had more favorable overall survival rates, while type D patients exhibited significantly worse outcomes.
  • The research highlighted that codon optimality in type D mutations affects gene expression and translation efficiency, leading to poorer prognostic implications and indicating the need for a potential reclassification of type D patients to higher-risk groups.
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Article Synopsis
  • Myeloid neoplasms are a significant cause of pediatric leukaemias in infants, with 25%-50% of newborn leukemia cases showing skin-related symptoms before bone marrow involvement.
  • This study examines 50 infants diagnosed with either cutaneous extramedullary disease (cEMD) or acute myeloid leukemia with cutaneous involvement (AML-cEMD), finding a common genetic mutation (KMT2A rearrangement) and notable survival rates.
  • Results indicate a 66% event-free survival and a 75% overall survival rate, with some patients experiencing spontaneous remission; outcomes did not significantly differ between cEMD and AML-cEMD groups.
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Background: Twenty percent of children with hepatoblastoma (HB) have lung metastasis at diagnosis. Treatment protocols recommend surgical removal of chemotherapy-refractory lung nodules, however no chronological order is established. As hepatectomy is followed by release of growth factors, it has been proposed that partial hepatectomy (PH) could boost local or distant residual tumor growth.

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The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized via sex-mismatched chromosomes as deriving from the donor cells; the patient was male, and the donor was his sister. Donor cell leukemia (DCL) is very rare, and it had never been reported in patients with CGD after HSCT.

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In the development of novel immunotherapeutic approaches, the step of target identification is a challenging process, because it aims at identifying robust tumor-associated antigens (TAAs) specific for the pathological population and causing no off-target effects. Here we propose CD72 as a novel and robust TAA for pediatric acute leukemias. We provided an outline of CD72 expression assessed by flow cytometry on a variety of cancer cell lines and primary samples, including normal bone marrow (BM) samples and hematopoietic stem and progenitor cells.

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