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Mixed cranial neuropathies due to occult perineural invasion of basal cell carcinoma.

ABSTRACT: Purpose:To report a diagnostically challenging case of cranial neuropathy due to perineural invasion by a basal cell carcinoma presenting 7.5 years after treatment of the primary tumor with Mohs micrographic surgery. Observations:A 62-year-old male with a history of Mohs micrographic surgery for basal cell carcinoma (BCC) of the left brow presented with insidious onset of diplopia and paresthesia localizing to the ipsilateral cranial nerves V1, V2, and VI. He had no evidence of recurrent cutaneous BCC. Magnetic resonance imaging of the orbits and skull base identified equivocal, subtle abnormalities in the ipsilateral superior orbital fissure and cavernous sinus, with normal appearance of the clinically involved nerve branches. A radiographically normal branch of cranial nerve V was biopsied and histopathology identified perineural invasion by recurrent basal cell carcinoma. Conclusions and importance:The diagnosis of perineural invasion by BCC can pose several challenges, including subtle to absent imaging findings of clinically involved nerves and a lengthy latent period following primary tumor treatment. This case represents, to our knowledge, the longest reported interval between primary treatment and biopsy-proven recurrence with perineural invasion by BCC.

SUBMITTER: Ashraf DC

PROVIDER: S-EPMC6348452 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Mixed cranial neuropathies due to occult perineural invasion of basal cell carcinoma.

Ashraf Davin C DC Kalin-Hajdu Evan E Levin Marc H MH Kersten Robert C RC

American journal of ophthalmology case reports 20181219

<h4>Purpose</h4>To report a diagnostically challenging case of cranial neuropathy due to perineural invasion by a basal cell carcinoma presenting 7.5 years after treatment of the primary tumor with Mohs micrographic surgery.<h4>Observations</h4>A 62-year-old male with a history of Mohs micrographic surgery for basal cell carcinoma (BCC) of the left brow presented with insidious onset of diplopia and paresthesia localizing to the ipsilateral cranial nerves V<sub>1</sub>, V<sub>2</sub>, and VI. He ...[more]

PMID: 30705997

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Project description:Introduction: Perineural invasion (PNI), a key pathological feature of head and neck squamous cell carcinoma (HNSCC), predicts poor survival. However, the associated clinical characteristics remain uncertain, and the molecular mechanisms are largely unknown. Materials and methods: HNSCC gene expression and corresponding clinical data were downloaded from The Cancer Genome Atlas (TCGA). Prognostic subgroup analysis was performed, and potential PNI risk factors were assessed with logistic regression. PNI-associated gene coexpression modules were identified with weighted gene coexpression network analysis (WGCNA), and key module gene functions and the roles of non-malignant cells in PNI were evaluated with a single-cell transcriptomic dataset (GSE103322). Results: PNI was significantly inversely associated with overall survival (HR, 2.08; 95% CI, 1.27 to 3.40; P = 0.004), especially in advanced patients (HR, 2.62; 95% CI, 1.48 to 4.64; P < 0.001). Age, gender, smoking history, and alcohol history were not risk factors. HPV-positive cases were less likely than HPV-negative cases to develop PNI (OR, 0.28; 95% CI, 0.09 to 0.76; P = 0.017). WGCNA identified a unique significantly PNI-associated coexpression module containing 357 genes, with 12 hub genes (TIMP2, MIR198, LAMA4, FAM198B, MIR4649, COL5A1, COL1A2, OLFML2B, MMP2, FBN1, ADAM12, and PDGFRB). Single-cell transcriptomic data analysis revealed that the genes in the PNI-associated module correlated with the signatures "EMT," "metastasis," and "invasion." Among non-malignant cells, fibroblasts had relatively high expression of the key genes. Conclusion: At the molecular and omic levels, we verified that PNI in HNSCC is a process of invasion rather than simple diffusion. Fibroblasts probably play an important role in PNI. Novelty & Impact Statements The study is a thorough analysis of PNI in HNSCC from the clinical level to the molecular level and presents the first description of cancer-related PNI from the omics perspective to date as far as we know. We verified that PNI in HNSCC is a process of invasion rather than simple diffusion, at the molecular and omic levels. Fibroblasts were found to probably play an important role in PNI by analyzing single-cell transcriptomic data.

Project description:Dysregulated amino acids metabolism reciprocally interplays with evolutionary phenotypic characteristics of cancer cells to enhance metastasis. The high metastasis potential of oral squamous cell carcinoma (OSCC) can manifest with perineural invasion (PNI). We here aimed to determine the role of amino acids metabolism in OSCCs with different PNI statuses. Targeted metabolomics was used to quantify 48 amino acids in 20 fresh OSCC samples and 25 amino acids were successfully detected, within which 9 were significantly up-regulated in PNI positive (PNI+) samples. As its highest area under the curve value (0.9063), l-asparagine was selected as the biomarker to distinguish PNI+ from PNI negative (PNI-). Then, the key enzyme of l-asparagine, asparagine synthetase (ASNS), was investigated using immunohistochemistry with 86 OSCC patients. The results showed that ASNS mainly expressed in tumor epitheliums and positively correlated with lymph node metastasis and PNI. Moreover, subgroup survival analysis revealed that ASNS expression combined with PNI status significantly improved their prognostic value, which was confirmed by the TCGA OSCC cohort (n = 279). To validate whether ASNS promotes PNI, we determined ASNS expression levels in five OSCC cell lines and one normal oral keratinocyte, and HSC3 showed the lowest ASNS level but CAL33 had the highest. Therefore, HSC3 and CAL33 (or PBS as control) were selected and injected separately into sciatic nerves to construct the in vivo PNI mouse models. Although both models eventually developed the hind-limb paralysis, nerve dysfunction in the CAL33 model progressed significantly earlier than HSC3 (Day 9 vs. Day 24). Besides, CAL33 migrated significantly farther than HSC3 in the nerve microenvironment (P = 0.0003), indicating high ASNS expression is indispensable for OSCC progression, especially PNI formation, through l-asparagine metabolism alteration. This study provides novel insights into how amino acids metabolism disorders alter tumor neurotropism which helps cancer metastasis.

Dataset Information

Mixed cranial neuropathies due to occult perineural invasion of basal cell carcinoma.

Publications

Mixed cranial neuropathies due to occult perineural invasion of basal cell carcinoma.

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