TY - JOUR
T1 - HDAC Overexpression in a NUT Midline Carcinoma of the Parotid Gland with Exceptional Survival
T2 - A Case Report
AU - Esteves, Gonçalo
AU - Ferreira, Joana
AU - Afonso, Rita
AU - Martins, Carmo
AU - Zagalo, Carlos
AU - Félix, Ana
N1 - Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2020/12
Y1 - 2020/12
N2 - NUT midline carcinoma (NMC) is a recently described entity with a predilection for young individuals, characterised by a rearrangement of NUT, most commonly with BRD4. It usually involves midline structures, with a minority of cases presenting outside the midline axis. Given its dismal prognosis, new molecularly targeted therapies (eg, HDAC inhibitors) are gaining ground, but the HDAC expression pattern remains unknown. We describe the exceptional evolution of a NMC arising in the parotid gland. A 34-year-old male presented with a rapidly growing 35 mm left-parotid mass. Parotidectomy and lymphadenectomy were performed. The tumour invaded the surrounding soft tissue and lay adjacent to the surgical margin. No lymph node metastases were identified. Histology revealed blue nests of undifferentiated cells merging with foci of necrosis and occasional abrupt foci of keratinising squamous epithelium. FISH analysis confirmed a rearrangement of NUT, but not of BRD4. A diagnosis of NMC was rendered. Currently, after adjuvant chemoradiotherapy and 47 months after diagnosis, the patient is alive and well. The tumour was found to have increased immunoexpression of HDAC2, 4 and 6 and phospho-HDAC4/5/7. This case emphasises the importance of considering NMC in the differential diagnosis of poorly differentiated carcinomas of the head and neck region in young adults, even away from midline structures. As molecular targets hold the promise of successful therapy for the vast majority of NMC patients, the knowledge of their HDAC expression patterns will probably be relevant.
AB - NUT midline carcinoma (NMC) is a recently described entity with a predilection for young individuals, characterised by a rearrangement of NUT, most commonly with BRD4. It usually involves midline structures, with a minority of cases presenting outside the midline axis. Given its dismal prognosis, new molecularly targeted therapies (eg, HDAC inhibitors) are gaining ground, but the HDAC expression pattern remains unknown. We describe the exceptional evolution of a NMC arising in the parotid gland. A 34-year-old male presented with a rapidly growing 35 mm left-parotid mass. Parotidectomy and lymphadenectomy were performed. The tumour invaded the surrounding soft tissue and lay adjacent to the surgical margin. No lymph node metastases were identified. Histology revealed blue nests of undifferentiated cells merging with foci of necrosis and occasional abrupt foci of keratinising squamous epithelium. FISH analysis confirmed a rearrangement of NUT, but not of BRD4. A diagnosis of NMC was rendered. Currently, after adjuvant chemoradiotherapy and 47 months after diagnosis, the patient is alive and well. The tumour was found to have increased immunoexpression of HDAC2, 4 and 6 and phospho-HDAC4/5/7. This case emphasises the importance of considering NMC in the differential diagnosis of poorly differentiated carcinomas of the head and neck region in young adults, even away from midline structures. As molecular targets hold the promise of successful therapy for the vast majority of NMC patients, the knowledge of their HDAC expression patterns will probably be relevant.
KW - Bromodomain and extraterminal protein
KW - Histone deacetylase
KW - Histone deacetylase inhibitors
KW - NUT gene
KW - NUT midline carcinoma
KW - Salivary gland
UR - http://www.scopus.com/inward/record.url?scp=85078736817&partnerID=8YFLogxK
U2 - 10.1007/s12105-020-01130-6
DO - 10.1007/s12105-020-01130-6
M3 - Article
C2 - 31989434
AN - SCOPUS:85078736817
SN - 1936-055X
VL - 14
SP - 1117
EP - 1122
JO - Head and Neck Pathology
JF - Head and Neck Pathology
IS - 4
ER -