| Identifier |
walsh_2024_s2_c4 |
| Title |
Anchora Sella |
| Creator |
Adeniyi Fisayo; Vanessa Veloso |
| Affiliation |
(AF) Yale University; (VV) Yale New Haven Hospital |
| Subject |
Skull Base Tumors; 6th Nerve Palsy; Intracranial Tumors |
| Description |
A now 75-year-old man was evaluated in October 2018 for fatigue, decreased libido, and decreased vision in the left eye. Visual fields showed bitemporal hemianopia, worse in the left eye. Brain imaging showed a large (3.6 cm) sellar mass which was resected in October 2019 and was histopathologically confirmed to be meningioma (WHO Grade 1, Ki-67 1%). Visual function improved. He defaulted on follow up in the context of the coronavirus pandemic. In June 2023 he experienced double vision, along with headache and epistaxis. Brain MRI on June 14, 2023 showed a 2.5 x 3.2 x 4.1 cm sellar mass. Eye examination on June 17, 2023, showed visual acuities of 20/25 in the right eye and 20/30 in the left eye; there was a complete aBduction defect of the left eye. Initial neuro-ophthalmology examination on June 28, 2023 was remarkable for visual acuities of 20/25 in the right eye and 20/200 in the left eye, a left relative afferent pupillary defect and aBduction defect of the left eye. Automated perimetry showed mild superior temporal defect in the right eye and dense depression in the left eye. Repeat brain MRI on July 28, 2023 showed increased size of sellar mass, now 4.0 x 3.1 x 5.4 cm. |
| History |
On August 3, 2023, endoscopic endonasal resection of the sellar mass revealed a soft hemorrhagic mass within the sphenoid sinus, sellar and suprasellar spaces. Gross appearance of the mass was atypical for meningioma while frozen section revealed malignant, metastatic appearance. Final pathology revealed a densely cellular lesion and composed of poorly differentiated/undifferentiated pleomorphic cells with high mitotic activity and complete loss of SMARCB1(INI1) immunohistochemical expression. Neuro-ophthalmology examination on August 22, 2023 showed visual acuity of 20/60 in the right eye and no light perception in the left eye. Pupils were sluggishly reactive, with a dense left relative afferent pupillary defect. There was abduction defect of both eyes and pallor of both optic discs, worse in the left eye. Automated perimetry showed inferior altitudinal and superior temporal defect in the right eye with sparing of the superior nasal quadrant. Treatment plan is for induction chemotherapy with paclitaxel and carboplatin followed by radiotherapy for consolidation. SMARCB1-deficient carcinoma is a rare subset of sinonasal carcinomas that harbors inactivating alterations of the SMARCB1 tumor suppressor gene. SMARCB1 is located at 22q11.2 and is a component of the chromatin remodeling complex SWI/SNF, but its function is largely unknown (1). In a large case-series study, 39 patients with ages ranging from 19 to 89 (median 52) years old presented with locally advanced disease (T3 and T4 stages) often showing extensive involvement of the paranasal sinuses, nasal cavity and skull base (2). Grossly, these tumors exhibit infiltrative borders and a variable exophytic papillary surface component. SMARCB1-deficient sinonasal carcinomas have an aggressive clinical course. The prognosis is heterogeneous with more than half of the patients dying of their disease within two years. Platinum-based chemotherapy which has shown good response for SMARCA4-deficient non-small cell lung carcinoma has also been suggested for SMARCB1-deficient sinonasal carcinomas. (3) |
| Disease/Diagnosis |
Locally advanced poorly differentiated sinonasal cancer, SMARCB1 deficient. |
| Date |
2024-03 |
| References |
A now 75-year-old man was evaluated in October 2018 for fatigue, decreased libido, and decreased vision in the left eye. Visual fields showed bitemporal hemianopia, worse in the left eye. Brain imaging showed a large (3.6 cm) sellar mass which was resected in October 2019 and was histopathologically confirmed to be meningioma (WHO Grade 1, Ki-67 1%). Visual function improved. He defaulted on follow up in the context of the coronavirus pandemic. In June 2023 he experienced double vision, along with headache and epistaxis. Brain MRI on June 14, 2023 showed a 2.5 x 3.2 x 4.1 cm sellar mass. Eye examination on June 17, 2023, showed visual acuities of 20/25 in the right eye and 20/30 in the left eye; there was a complete aBduction defect of the left eye. Initial neuro-ophthalmology examination on June 28, 2023 was remarkable for visual acuities of 20/25 in the right eye and 20/200 in the left eye, a left relative afferent pupillary defect and aBduction defect of the left eye. Automated perimetry showed mild superior temporal defect in the right eye and dense depression in the left eye. Repeat brain MRI on July 28, 2023 showed increased size of sellar mass, now 4.0 x 3.1 x 5.4 cm. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2024 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2024 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2024. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6r614d4 |
| Setname |
ehsl_novel_fbw |
| ID |
2589441 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6r614d4 |
