Sarcomatous transformation of neurofibromas. Comparative imaging with Ga-67, Tl-201, Tc-99m pentavalent DMSA and...

A 29-year-old man, with a history of von Recklinghausen's disease, presented with progressive dyspnea associated with a rapidly growing mass on the right chest wall. Plain radiograph and CT of the chest revealed a huge soft-tissue mass with central low-density area involving the right upper lung and chest wall. SPECT imaging with Ga-67 citrate, Tl-201 chloride, Tc-99m pentavalent DMSA (V-DMSA), and Tc-99m MIBI were performed to characterize the mass. The tumor concentrated Ga-67, Tl-201, and Tc-99m (V) DMSA, but not Tc-99m MIBI. Punch biopsy of the lesion revealed malignant transformation of a thoracic neuroma (neurofibrosarcoma). Subsequently, findings compatible with the presence of a multidrug resistance-1 (MDR1) gene in the tumor was documented, which may explain the poor uptake of Tc-99m MIBI. The patient did not respond to intensive chemotherapeutic regimens, and died 3 months later. This case demonstrates the potential use of combined radionuclide imaging for the detection of malignant transformation of neurofibroma, as well as for predicting tumor response to chemotherapy.