CC BY-NC-ND 4.0 · Laryngorhinootologie 2019; 98(S 02): S39
DOI: 10.1055/s-0039-1685799
Abstracts
Learning based on Case Reports

Acute left-sided facial pain and headache with double vision and ptosis

S Euteneuer
1   HNO-Klinik, Universitätsklinikum Heidelberg, Heidelberg
,
PT Pham
2   Neurologische Klinik, Abt. für Neuroradiologie, Universitätsklinikum Heidelberg, Heidelberg
,
T Albrecht
3   Patholog. Institut, Abt. Allgemeine Pathologie und patholog. Anatomie, Universitätsklinikum Heidelberg, Heidelberg
,
B Goeppert
3   Patholog. Institut, Abt. Allgemeine Pathologie und patholog. Anatomie, Universitätsklinikum Heidelberg, Heidelberg
,
N Bosch
1   HNO-Klinik, Universitätsklinikum Heidelberg, Heidelberg
,
P Federspil
1   HNO-Klinik, Universitätsklinikum Heidelberg, Heidelberg
,
PK Plinkert
1   HNO-Klinik, Universitätsklinikum Heidelberg, Heidelberg
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    Introduction:

    NUT midline carcinomas are rare, highly malignant carcinomas of the mediastinum and the head-and neck with a characteristic genetic trait. The nuclear protein in testis (NUT) gene is translocated, and (most frequently) fused to the bromodomain-containing 4 (BRD4) gene. The BRD4-NUT-fusionprotien induces hyperacetylation of histones, thereby freeing large regions of chromatin for transcription. WHO introduced NUT midline carcinomas in the 2017 classification of sinunasal tract tumors. The current case report aims draw attention towards this new tumor entity.

    Methods:

    Case report with review of the literature.

    Results:

    A 48 year old male presented with progressive left sided facial pain and headache, which had started only 3 weeks earlier. A cranial CT-scan, as well as an MRI, showed a soft tissue mass in the left sphenoid sinus with erosion to the scull base. Histology, obtained via endoscopic endonasal sphenoidotomy, revealed a malignant epithelial tumor with expression of NUT. Clinically, the patient detoriated rapidly, developing double vision, exophthamos and vision loss. After consensus by the institutional interdisciplinary tumor board, endoscopic endonasal subtotal tumor resection was carried out, followed by combined radiochemotherapy including a protonboost.

    Conclusions:

    NUT-Immunohistochemistry should be included into work up protocols for poorly differentiated epithelial malignancies of the sinunasal tract. Diagnosis of NUT midline carcinoma then justifies an aggressive treatment protocol. In Germany, targeted therapy of NUT midline carcinomas by small-molecule bromodomain and extraterminal doman (BET) inhibitors is not offered in clinical studies at this time, but only for “compassionate use” in affected individual patients.


    #
    Dr. Sara Euteneuer
    HNO-Klinik, Universitätsklinikum Heidelberg,
    In Neuenheimer Feld 400, 69120
    Heidelberg

    Publikationsverlauf

    Publikationsdatum:
    12. Juni 2019 (online)

    © 2019. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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