Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive mesenchymal malignancy driven by the EWS–WT1 gene fusion. Prognosis remains poor despite intensive multimodal therapy. Preclinical studies indicate that trabectedin combined with irinotecan exerts synergistic antitumor effects in translocation-driven sarcomas.
Remarkable advancements in the therapeutic armamentarium for medullary thyroid cancer (MTC) have been observed in the last 10 years. The current understanding of driver mutations, such as RET and RAS, has enabled the development of new therapies for advanced and metastatic disease, demonstrating improved efficacy.
Antibody-drug conjugate (ADC) has become the standard of treatment for metastatic urothelial cancer. Current trials generally test the combination or sequential use of antibody-drug conjugates with different targets and different chemotherapeutic reagents.
We show that in three patients with metastatic urothelial cancer who have progressed on anti-HER2 antibody-drug conjugates, two showed responses when treated with EV (the same monomethyl auristatin E-containing ADC, but with different targets).
Reactive eosinophilia has been reported in several hematological malignancies, including Hodgkin–s lymphoma, T-cell lymphoma/leukemia, and acute leukemia. However, eosinophilia associated with B-cell non-Hodgkin–s lymphoma is rarely reported. Mantle cell lymphoma is a subcategory of non-Hodgkin–s lymphoma originated from mature B cells. In this article, we report for the first time a case of mantle cell lymphoma with hypereosinophilia.
The distinction between a metastatic recurrence and the onset of a second primary malignancy can be diagnostically challenging. Precision medicine can offer valuable support in this context.
A 34-year-old woman was diagnosed in 2012 with hormone-receptor positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) breast cancer in the left breast, with homolateral axillary node involvement but no distant metastases.
Global migration has led to an increasing number of migrant patients receiving cancer diagnoses in foreign countries. These individuals often experience worse outcomes due to advanced disease at diagnosis and limited access to specialized care. When palliative care becomes the primary option, many express a wish to return to their home country for End-of-Life care. However, no guidelines or care pathways currently address this sensitive issue.
The association of acute lymphoblastic leukaemia (ALL) and cystic fibrosis (CF) is rare. We present the case of a paediatric patient affected by CF and refractory B-cell precursor (BCP) ALL, who was treated with combined chimeric antigen receptor T-cells (CAR-T) and allogeneic haematopoietic stem cell transplantation (HSCT).
Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.
Several biomarkers are currently available to address targeted treatments in cancer patients, with lung malignancies representing one of the best examples. We report the case of a patient affected by advanced non-small cell lung cancer with an uncommon histology and a complex biology. The use of a large next-generation sequencing (NGS) NGS panel allowed us to identify an extremely rare BRAF mutation (V600Q), a MET amplification, a high tumor mutational burden, a germline pathogenetic BRCA1 mutation and a homologous recombination deficiency through RAD51 assay.
Germline pathogenic mutations in TP53 gene are associated with a cancer predisposition syndrome known as Li Fraumeni syndrome. Albeit infrequently, non-small cell lung cancer, especially as oncogene-addicted disease, may be diagnosed in young patients with Li Fraumeni syndrome. We report three cases of patients affected by Li Fraumeni syndrome who developed non-small cell lung cancer with EGFR or HER2 exon 20 insertions.