BackgroundRhabdomyosarcoma (RMS) is a common pleomorphic malignant soft tissue sarcoma in children and adolescents that originates from rhabdomyoblasts or mesenchymal precursor cells. Alveolar rhabdomyosarcoma (ARMS) mostly occurs in adolescents aged 10–15 years and is characterized by more aggressive behaviors and worse prognosis than other sarcomas, prone to lymphatic and hematogenous metastasis in the early stage as well as metastasizing to breast, testis, pancreas, and other parts. ARMS often occurs in the limbs and genitourinary system, however, head and neck ARMS are relatively rare when involving the nasal cavity or sinuses. The role of MRI and 18F-FDG positron emission tomography combined with computed tomography (PET/CT) remains to be established in ARMS.Case reportCase 1: An 18-year-old male was found with a left submandibular mass of approximately 1 cm in diameter 2 months ago, which gradually increased in size. CT showed multiple soft tissue masses in maxillofacial and neck regions and the lesions invaded the frontal lobe and the inner wall of the left orbital lobe. MRI showed the masses with hypointensity on T1WI, hyperintensity on T2WI, and diffusion-weighted imaging (DWI) with significant enhancement. 18F-FDG PET/CT showed multiple hypermetabolic lesions located in the maxillofacial, neck region, 3rd lumbar vertebra, and the right sacrum. A nasal endoscopic tumor biopsy and molecular testing finally helped to diagnose the ARMS. Case 2: A 14-year-old male presented with left maxillary pain with nasal congestion and left ocular swelling 15 days ago. CT demonstrated a soft tissue mass in the nasal cavity and sinuses with local protrusion into the left orbit. MRI showed the masses with a slightly low signal on T1WI, a high signal on T2WI, and DWI with significant heterogenous enhancement. 18F-FDG PET/CT showed hypermetabolic lesions in the left maxillofacial and neck regions. ARMS was finally diagnosed by a nasal endoscopic tumor biopsy and molecular testing. The patient had a recurrence of the lesion after chemotherapy and surgical resection and is currently undergoing radiation therapy.ConclusionNasal sinus ARMS is highly malignant with a poor prognosis. Accurate diagnosis relies not only on histopathology and immunohistochemistry examination but also on genetic detection of characteristic chromosomal translocations and fusion genes. Imaging methods, such as MRI and PET/CT can accurately assess the extent of the lesions and metastases, assist in the diagnosis of the disease and the selection of treatment regimens, provide precise localization for surgery, and help with treatment monitoring and follow-up.
BACKGROUND Nuclear protein in testis (NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma (NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome. CASE SUMMARY A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy (SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo. CONCLUSION For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.
ObjectivePrimary pulmonary nucleoprotein of the testis (NUT) carcinoma is very rare in the clinic. In this study, the clinicopathological manifestations and imaging features of the primary pulmonary NUT carcinoma were investigated to improve the diagnosis of this disease.MethodsSix patients with pathologically diagnosed pulmonary NUT carcinoma were analyzed, including three males and three females, aged 19–64 (49.00 ± 16.40) years, with clinical manifestations of cough in two cases, hoarseness in one case, blood in sputum in one case, chest pain in one case, and physical examination findings in one case, with a disease duration of 5 days to 4 months. The clinical and imaging data including CT and PET/CT were retrospectively analyzed. Further literature reviews were analyzed in both pulmonary and extrapulmonary NUT carcinoma cases who performed 18F-FDG PET/CT.ResultsMost of the patients with pulmonary NUT carcinomas presented as heterogeneous lobulated masses (83.33%), four cases (66.67%) were located in the upper lobe of the left lung, one case (16.67%) in the middle lobe of the right lung, and one case (16.67%) in the lower lobe of the right lung, with the maximum diameter ranging from 1.30 to 8.90 cm and the median of 3.55 cm, most of them were irregularly shaped, with more lobulated margins and more heterogeneous density (83.33%), and the enhancement was mild. PET/CT showed increased 18F-FDG uptake in the lesion and metastatic areas. Both the pulmonary NUT patients in this study and literature reviews showed the SUVmax of the tumor ranged from 5 to 40 with an average value of 12.8, whereas that of extrapulmonary lesions had a range of SUVmax at 4.5–64.1 and a mean of 13.8.ConclusionIn patients with central lung masses, rapid disease progression, and poor response to initial treatment, the possibility of NUT cancer should be considered and anti-NUT monoclonal antibody immunohistochemical staining, combined with genetic detection, if necessary, should be performed as soon as possible. CT and PET/CT imaging are essential for the staging, management, treatment response assessment, and monitoring of pulmonary NUT cancer.
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