-
International Journal of Surgery Case... Jul 2024Cancer metastatic to the orbit may be difficult to distinguish from idiopathic orbital pseudotumor at clinical and radiological examination. This case report describes...
INTRODUCTION
Cancer metastatic to the orbit may be difficult to distinguish from idiopathic orbital pseudotumor at clinical and radiological examination. This case report describes clinical, radiological features, differential diagnosis, and treatment options for orbital neoplasms of unknown origin.
PRESENTATION OF CASE
A 63-year-old woman presented to our Unit because of orbital swelling, ocular pain, globe displacement, conjunctival chemosis, and progressive vision loss. The patient had been seen by an ophthalmologist at another hospital. The initial diagnosis was idiopathic orbital pseudotumor. Steroid therapy did not resolve clinical symptoms. Her medical history held decisive clues: ten years before this presentation she had been diagnosed with double primary breast cancer, invasive lobular breast carcinoma, and invasive ductal breast carcinoma. Orbital biopsy was performed for differential diagnosis.
DISCUSSION
Considering the rapid onset and severity of symptoms, the radiological features of the orbit, and the patient's medical history of breast cancer, orbital metastasis should have been the most likely diagnosis. Orbital biopsy was performed because of the history of multiple primary cancers and because metastatic origin had to be determined to define the best treatment strategy.
CONCLUSION
Biopsy is necessary under specific circumstances in the diagnosis of orbital metastasis, especially when presentation is ambiguous and when differential diagnosis is challenging. A patient's medical history may hold vital clues to correct diagnosis.
PubMed: 38852566
DOI: 10.1016/j.ijscr.2024.109845 -
Cureus May 2024Optic nerve schwannoma is a very rarely occurring tumor described in the literature. It is due to the fact that the optic nerve is myelinated by oligodendrocytes....
Optic nerve schwannoma is a very rarely occurring tumor described in the literature. It is due to the fact that the optic nerve is myelinated by oligodendrocytes. Schwannomas are tumors of the peripheral nervous system, hence optic nerve schwannoma is a rare phenomenon. A 34-year-old patient presented in the outpatient department with complaints of gradual painless protrusion of the left eye (LE) for the past one year. There was no history of diminution of vision. On examination, vision in both eyes was 6/6, anterior segment examination in both eyes was normal, and pupils were central, circular, and reacting to light. Intraocular pressure was measured on a noncontact tonometer and was within normal range. Both eyes' optic disc, fundus, and visual fields were normal. On inspection, axial proptosis was noted in the LE. Proptosis measurement (on Hertel exophthalmometer) in the right eye was 17 mm and in the left eye was 21 mm. MRI of the orbit without contrast was done and showed a well-defined, soft tissue lesion of the optic nerve in the intraconal compartment of the left orbit. Surgical excision of the tumor was done by lateral orbitotomy approach and the tumor was removed in total. Histopathological examination of the mass revealed a benign spindle cell neoplasm suggestive of schwannoma. Postoperatively, proptosis was resolved, 17 mm both in the right and left eye (on Hertel exophthalmometer), and vision in LE remained unchanged (6/6). Postoperatively, intraocular pressure (on noncontact tonometer) was within normal range, and the optic disc, fundus, and visual fields were normal.
PubMed: 38846181
DOI: 10.7759/cureus.59824 -
Journal Francais D'ophtalmologie Jun 2024Perivascular epithelioid cell tumors (PEComas) are a family of benign neoplasms characterized by smooth muscle and melanocytic differentiation. Orbital cases are rare. A...
Perivascular epithelioid cell tumors (PEComas) are a family of benign neoplasms characterized by smooth muscle and melanocytic differentiation. Orbital cases are rare. A 9-year-old male presented with a slowly growing orbital mass. Magnetic resonance imaging (MRI) revealed a well-defined orbital mass without intracranial extension. The microscopic appearance of the complete resection specimen showed large nests of epithelioid cells with wide cytoplasm containing melanin pigment and round to oval nuclei with mild cytonuclear atypia and low mitotic activity. Immunohistochemistry was positive for HMB45 and negative for melanA, smooth muscle actin, desmin and S-100 protein. Pangenomic RNA-sequencing identified an in-frame NONO-TFE3 rearrangement, and clustering data showed that the tumor's gene expression profile was grouped with other previously studied PEComas. A diagnosis of orbital pigmented PEComa with uncertain malignant potential associated with a NONO-TFE3 rearrangement was made. There was no recurrence after 1 year of follow-up.
PubMed: 38843609
DOI: 10.1016/j.jfo.2024.104215 -
The American Journal of Dermatopathology Jun 2024Pseudolymphomatous cutaneous angiosarcoma (cAS) is a rare subtype characterized by a prominent lymphocytic infiltrate, posing diagnostic challenges due to its...
Pseudolymphomatous cutaneous angiosarcoma (cAS) is a rare subtype characterized by a prominent lymphocytic infiltrate, posing diagnostic challenges due to its resemblance to lymphoid neoplastic processes. We present a novel case highlighting the clinical and histopathological features, notably its association with persistent firm facial edema in a patient with systemic sclerosis (SSc). A 47-year-old woman with a 21-year history of SSc presented with firm palpebral edema evolving to involve the entire face and cervical region over six months. Diagnostic imaging revealed inflammatory changes in orbital regions, supradiaphragmatic lymphadenopathies, and lytic lesions. Skin biopsy demonstrated a diffuse neoplasm with vascular channels and solid areas, accompanied by dense lymphocytic proliferation. Pseudolymphomatous cutaneous angiosarcoma, a rare malignant neoplasm, exhibits variable clinical presentations and rapid progression. Histologically, it manifests as irregularly shaped vascular channels lined by prominent endothelial cells. Immunohistochemistry, particularly markers such as v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), aids in diagnosis. Notably, this case marks the first presentation of cAS with persistent facial edema in SSc, highlighting the association between SSc and cancer risk. This case underscores the diagnostic challenges posed by cAS and emphasizes the importance of early detection for optimal patient outcomes. Further understanding of its association with autoimmune disorders such as SSc is crucial for comprehensive management strategies.
PubMed: 38842357
DOI: 10.1097/DAD.0000000000002740 -
International Journal of Surgical... Jun 2024
PubMed: 38839256
DOI: 10.1177/10668969241256110 -
Investigative Ophthalmology & Visual... Jun 2024Optic pathway gliomas (OPGs) are most predominant pilocytic astrocytomas, which are typically diagnosed within the first decade of life. The majority of affected... (Review)
Review
Optic pathway gliomas (OPGs) are most predominant pilocytic astrocytomas, which are typically diagnosed within the first decade of life. The majority of affected children with OPGs also present with neurofibromatosis type 1 (NF1), the most common tumor predisposition syndrome. OPGs in individuals with NF1 primarily affect the optic pathway and lead to visual disturbance. However, it is challenging to assess risk in asymptomatic patients without valid biomarkers. On the other hand, for symptomatic patients, there is still no effective treatment to prevent or recover vision loss. Therefore, this review summarizes current knowledge regarding the pathogenesis of NF1-associated OPGs (NF1-OPGs) from preclinical studies to seek potential prognostic markers and therapeutic targets. First, the loss of the NF1 gene activates 3 distinct Ras effector pathways, including the PI3K/AKT/mTOR pathway, the MEK/ERK pathway, and the cAMP pathway, which mediate glioma tumorigenesis. Meanwhile, non-neoplastic cells from the tumor microenvironment (microglia, T cells, neurons, etc.) also contribute to gliomagenesis via various soluble factors. Subsequently, we investigated potential genetic risk factors, molecularly targeted therapies, and neuroprotective strategies for tumor prevention and vision recovery. Last, potential directions and promising preclinical models of NF1-OPGs are presented for further research. On the whole, NF1-OPGs develop as a result of the interaction between glioma cells and the tumor microenvironment. Developing effective treatments require a better understanding of tumor molecular characteristics, as well as multistage interventions targeting both neoplastic cells and non-neoplastic cells.
Topics: Humans; Neurofibromatosis 1; Optic Nerve Glioma; Risk Factors; Animals; Neurofibromin 1; Optic Nerve Neoplasms
PubMed: 38837168
DOI: 10.1167/iovs.65.6.8 -
Journal of Drugs in Dermatology : JDD Jun 2024
Topics: Humans; Male; Middle Aged; Carcinoma, Basal Cell; Combined Modality Therapy; Orbital Neoplasms; Patient Care Team; Skin Neoplasms
PubMed: 38834208
DOI: 10.36849/JDD.7970 -
Hong Kong Medical Journal = Xianggang... Jun 2024
Topics: Humans; Lymphoma, Large B-Cell, Diffuse; Hemangioma, Cavernous; Orbital Neoplasms; Male; Female; Middle Aged; Neoplasms, Multiple Primary; Magnetic Resonance Imaging
PubMed: 38831747
DOI: 10.12809/hkmj2210588 -
International Forum of Allergy &... Jul 2024Sinonasal malignancies (SNMs) frequently present with orbital invasion. Orbital exenteration (OE) can lead to significant morbidity. Induction chemotherapy (IC) is a... (Review)
Review
BACKGROUND
Sinonasal malignancies (SNMs) frequently present with orbital invasion. Orbital exenteration (OE) can lead to significant morbidity. Induction chemotherapy (IC) is a promising treatment alternative that may allow for orbit preserving (OP) treatments without compromising patient survival. This systematic review was conducted to synthesize the published data on SNM patients with orbital invasion who underwent IC, including tumor response, orbital outcomes, and survival.
METHODS
The study protocol was designed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Databases Embase, Cochrane, Medline, and Scopus, from inception to July 17, 2023, were searched.
RESULTS
Nineteen studies were included, encompassing 305 SNM patients with orbital invasion treated with IC. Fourteen studies reported an overall IC response rate (positive response defined as complete or partial tumor volume reduction) of 77.2%. Among included studies, OE rates after IC ranged from 0 to 40%. Three studies reported a high rate of posttreatment functional orbital preservation (89.8-96.0%). Five studies specifically reported that 62.5% (60 out of 96) of patients were downgraded from planned OE to OP treatment following IC. Three studies reported a significant overall survival (OS) improvement in IC responders versus IC nonresponders. Following IC, 5-year OS ranged from 44.2 to 55.5%. Patients with olfactory neuroblastoma demonstrated the highest IC response rate and lowest OE rate (100 and 0%, respectively) versus those with sinonasal undifferentiated carcinomas (68.4 and 0%) or squamous cell carcinomas (76.7 and 16%).
CONCLUSIONS
For select patients, IC may allow for OP in locally advanced SNMs with orbital involvement.
Topics: Humans; Paranasal Sinus Neoplasms; Induction Chemotherapy; Orbital Neoplasms; Neoplasm Invasiveness; Treatment Outcome; Orbit
PubMed: 38829173
DOI: 10.1002/alr.23380 -
The American Journal of Case Reports Jun 2024BACKGROUND Orbital metastasis originating from hepatocellular carcinoma (HCC), particularly as an initial manifestation in patients without a known history of HCC, is... (Review)
Review
Orbital Metastasis as the First Manifestation of Hepatocellular Carcinoma, and Its Effective Treatment with Combined Dual Immunotherapy: A Case Report and Review of the Literature.
BACKGROUND Orbital metastasis originating from hepatocellular carcinoma (HCC), particularly as an initial manifestation in patients without a known history of HCC, is rare. Few reports exist on the treatment of patients having HCC with orbital metastasis using targeted therapy or immunotherapy. CASE REPORT We report a case of advanced-stage HCC in a 65-year-old man who first presented with progressive, painless blurred vision and proptosis of the right eye for 2 weeks. The patient had no history of chronic liver disease or cancer. Computed tomography revealed an enhancing hyperdense extraconal mass in the right orbit; a biopsy revealed metastatic HCC. Abdominal CT, which was performed to investigate the primary cancer, revealed a 1.2×1.6-cm arterial-enhancing nodule with venous washout in hepatic segment 5, associated with liver cirrhosis. The patient's serum alpha-fetoprotein level was 70.27 ng/dL. Chest computed tomography revealed lung metastasis. Thus, first-line systemic therapy combining durvalumab and tremelimumab was initiated alongside palliative radiotherapy targeting the right orbit, which began 1 week after the first dose of dual immunotherapy. The patient had significant clinical improvement, reduced proptosis, and serum alpha-fetoprotein levels. CONCLUSIONS Although orbital metastasis is a rare manifestation of HCC, physicians should recognize and consider aggressive investigations for early diagnosis, especially in patients with existing risk factors for HCC. Dual immunotherapy with durvalumab and tremelimumab in combination with radiotherapy can be considered a potential treatment option for managing advanced HCC with orbital metastasis.
Topics: Humans; Male; Carcinoma, Hepatocellular; Liver Neoplasms; Aged; Orbital Neoplasms; Antibodies, Monoclonal, Humanized; Antibodies, Monoclonal; Immunotherapy; Antineoplastic Combined Chemotherapy Protocols; Tomography, X-Ray Computed; Antineoplastic Agents, Immunological
PubMed: 38825807
DOI: 10.12659/AJCR.944002