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Angela Mastronuzzi
Public Documents
3
Inflammatory myofibroblastic tumor of the upper airways harboring a new TRAF3-ALK fus...
Valentina Di Ruscio
and 8 more
January 30, 2024
Inflammatory myofibroblastic tumor (IMT) is a rare disease that mainly involves the lung and the abdomen with an intermediate clinical course but a recurrence rate between 15-30%. Radical surgery represents the golden standard of treatment, while chemotherapy and radiotherapy are considered for unresectable lesions. The identification of ALK translocations in IMT opened the option for the use of target therapies1. Indeed, the ALK inhibitors have changed the treatment approach for aggressive lesions, improving the prognosis. Intraluminal upper way IMT is extremely rare and represents a medical challenge. We reported an endotracheal IMT case presenting a before unknown TRAF3-ALK fusion transcript.
Long-term response to Crizotinib in a 17-year-old boy with naive alk-positive Non-Sma...
giacomina megaro
and 12 more
November 24, 2020
Lung cancer is the leading cause of cancer-related death. NSCLC accounts for 80-90% of cases. In younger patients, adenocarcinoma is the most frequent histotype and 3-7% expresses the rearrange-ment of ALK oncogene, sensitive to TKIs. Crizotinib is the first ALK inhibitor approved by FDA. We present the case of a 17-year-old male with metastatic naïve ALK-positive adenocarcinoma, treated with crizotinib. He received crizotinib and obtained a prolonged response with PFS of 33 months. Crizotinib can be extremely effective in adolescent with naïve ALK-positive NSCLC but it hardly penetrates blood-brain barrier. Resistance mechanisms will be investigated for a better man-agement.
Diencephalic Tumor: a rare coincidence in retinoblastoma survivors?
Maria Antonietta De Ioris
and 8 more
November 02, 2020
Retinoblastoma(RB) patients have a high risk to develop second malignant neoplasm (SMN). Diencephalic tumors(DT) are rare in paediatric age. A retrospective review was performed over 21 years period. Out of 169 RB patients, 3 presented a DT. Two patients presented a Rb1 germline mutation and none received radiotherapy. DT in previously treated RB patients seems a peculiar SMN. However, considering the site, the short time interval from RB and the absence of radiotherapy, an alternative pathogenic mechanism could be supposed. The same embryological origin of the retina and the diencephalon should be considered and biological studies are needed.