International journal of surgical pathology · 2017
Salivary Gland Secretory Carcinoma With High-Grade Transformation, CDKN2A/B Loss, Distant Metastasis, and Lack of Sustained Response to Crizotinib.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Cipriani Nicole A, Blair Elizabeth A, Finkle Joshua, Kraninger Jennifer L, Straus Christopher M, Villaflor Victoria M, Ginat Daniel Thomas
Аннотация
BACKGROUND: Salivary gland secretory carcinoma is usually a low-grade neoplasm. However, high-grade transformation can occur and has important implications for clinical outcome.
METHODS: A patient presented with an enlarging buccal mass. Magnetic resonance imaging (MRI) showed a tumor with a biphasic appearance along the right parotid duct. Local excision and histopathologic examination confirmed the diagnosis of secretory carcinoma with high-grade transformation. ETV6-NTRK3 translocation and loss of CDKN2A/B were identified.
RESULTS: The patient subsequently presented with cough and dyspnea and was found to have pleural metastases. Carboplatin and paclitaxel exacerbated the symptoms. Crizotinib resulted in initial symptomatic and radiographic improvement; however, the patient soon succumbed to progressive intrathoracic disease.
CONCLUSIONS: High-grade salivary gland secretory carcinoma can have a biphasic appearance on MRI. Diagnosis is confirmed by the histologic appearance and associated ETV6-NTRK3 fusion. Additional molecular genetic events leading to transformation are unknown; however, loss of CDKN2A/B may have contributed. Treatment with multimodal chemotherapy was of limited benefit.
METHODS: A patient presented with an enlarging buccal mass. Magnetic resonance imaging (MRI) showed a tumor with a biphasic appearance along the right parotid duct. Local excision and histopathologic examination confirmed the diagnosis of secretory carcinoma with high-grade transformation. ETV6-NTRK3 translocation and loss of CDKN2A/B were identified.
RESULTS: The patient subsequently presented with cough and dyspnea and was found to have pleural metastases. Carboplatin and paclitaxel exacerbated the symptoms. Crizotinib resulted in initial symptomatic and radiographic improvement; however, the patient soon succumbed to progressive intrathoracic disease.
CONCLUSIONS: High-grade salivary gland secretory carcinoma can have a biphasic appearance on MRI. Diagnosis is confirmed by the histologic appearance and associated ETV6-NTRK3 fusion. Additional molecular genetic events leading to transformation are unknown; however, loss of CDKN2A/B may have contributed. Treatment with multimodal chemotherapy was of limited benefit.
Предметные рубрики MeSH
Adenocarcinoma, Clear CellAdultAntineoplastic Combined Chemotherapy ProtocolsCrizotinibCyclin-Dependent Kinase Inhibitor p15Cyclin-Dependent Kinase Inhibitor p16Cyclin-Dependent Kinase Inhibitor p18Diagnosis, DifferentialDisease ProgressionDrug Resistance, NeoplasmFatal OutcomeGene RearrangementHumansImmunohistochemistryMagnetic Resonance ImagingMaleMammary Analogue Secretory CarcinomaMyoepitheliomaOncogene Proteins, FusionParotid GlandPleural NeoplasmsPyrazolesPyridinesSalivary Gland NeoplasmsTranslocation, GeneticTreatment OutcomeReceptor, trkCETS Translocation Variant 6 Protein