Challenging differential diagnosis, Unusual or unexpected effect of treatment, Unexpected drug reaction , Rare disease
Michela Maur, Angela Toss, Massimo Dominici, Antonio Frassoldati, Paolo Corradini, Antonio Maiorana, Annalisa Fontana, Pierfranco Conte
(Division of Oncology, Department of Medical and Surgical Sciences for Children and Adults, University Hospital of Modena and Reggio Emilia, Modena, Italy)
Am J Case Rep 2015; 16:424-429
NUT midline carcinoma (NMC) is a rare, highly lethal malignancy that results from a chromosome translocation and mostly arises in the midline organs. To date, no treatment has been established. Most patients receive combinations of chemotherapy regimens and radiation, and occasionally subsequent resection; nevertheless, patients have an average survival hardly exceeding 7 months.
CASE REPORT: A 21-year-old patient was admitted to our division with a large mediastinal mass with lung nodules, multiple vertebral metastases, and massive nodal involvement. In a few days, the patient developed a superior vena cava syndrome and an acute respiratory failure. Due to the rapid course of the disease, based on preliminary histology of poorly differentiated carcinoma, a dose-dense biweekly chemotherapy with paclitaxel, ifosfamide, and cisplatin was started. In the meantime, the diagnosis of NMC was confirmed. A surprising clinical benefit was obtained after the first cycle of chemotherapy, and after 6 cycles a PET-CT scan showed a very good response. At this point, radiotherapy was started but the disease progressed outside of the radiation field. The patient entered into a compassionate use protocol with Romidepsin, but a PET/CT scan after the first course showed disease progression with peritoneal and retroperitoneal carcinosis. A treatment with Pemetrexed was then started but the patient eventually died with rapid progressive disease.
CONCLUSIONS: Our case history adds some interesting findings to available knowledge: NMC can be chemosensitive and radiosensitive. This opens the possibility to study more aggressive treatments, including high-dose consolidation chemotherapy and to evaluate the role of biological agents as maintenance treatments.
Keywords: Antineoplastic Agents, Phytogenic - administration & dosage, Biopsy, Carcinoma, Squamous Cell - drug therapy, Diagnosis, Differential, Dose-Response Relationship, Drug, Humans, Male, Mediastinal Neoplasms - drug therapy, Paclitaxel - administration & dosage, Positron-Emission Tomography, Tomography, X-Ray Computed, young adult