SOX10 Immunoexpression in Basaloid Squamous Cell Carcinomas: A Diagnostic Pitfall for Ruling out Salivary Differentiation

Rooper, Lisa M.; McCuiston, Austin; Westra, William H.; Bishop, Justin A.

doi:10.1007/s12105-018-0990-7

Cited by 28 publications

(16 citation statements)

References 28 publications

(43 reference statements)

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“…1d). IHC can also facilitate this distinction, with only focal expression of myoepithelial markers such as S100 and SMA in basaloid SCC [20,21]; however, frequent reactivity for c-kit [22] and SOX10 [23] in basaloid SCC can pose a pitfall. FISH for MYB rearrangements can confirm a classification as ACC, but a negative result does not exclude this diagnosis [11,12].…”

Section: Challenge #1: Squamous Differentiationmentioning

confidence: 99%

Challenges in Minor Salivary Gland Biopsies: A Practical Approach to Problematic Histologic Patterns

Rooper

2019

Head and Neck Pathol

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Evaluation of minor salivary gland biopsy can be fraught with a wide range of problems, including technical limitations due to the small size and distorted nature of tissue received and interpretive difficulties navigating the considerable morphologic and immunohistochemical overlap between widely disparate entities. As such, common pathologic findings can evoke a perplexing differential diagnosis that encompasses malignant, benign, and non-neoplastic processes. This review will present the diagnostic considerations that arise from four histologic patterns that are frequently encountered on minor salivary gland biopsies: squamous differentiation, tubular and cribriform growth, mucin production, and myxoid stroma. The discussion herein will emphasize practical strategies and priorities for navigating these differential diagnoses in a clinically-relevant and cost-effective manner.

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Section: Challenge #1: Squamous Differentiationmentioning

confidence: 99%

Challenges in Minor Salivary Gland Biopsies: A Practical Approach to Problematic Histologic Patterns

Rooper

2019

Head and Neck Pathol

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“…The Sry-related HMG box10 gene (SOX10) encodes a transcription factor that plays a crucial role in the survival, maturation, and differentiation of neural crest-derived melanocytes and glia. 22,23 SOX10 was reported to be preferentially expressed in metaplastic breast carcinomas. 24 Because of fewer cases (only 4 cases of metaplastic carcinomas mixed squamous with spindled and chondroid components), the expression of SOX10 in MSCCB remains unknown.…”

Section: Introductionmentioning

confidence: 99%

<p>SOX10 – A Novel Marker for the Differential Diagnosis of Breast Metaplastic Squamous Cell Carcinoma</p>

Qi¹,

Hu²,

Xiao³

et al. 2020

CMAR

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Introduction: Differential diagnosis of metaplastic squamous cell carcinoma of breast (MSCCB) is difficult. In particular, in terms of metastatic MSCCB, because of the low speciality of traditional markers such as mammaglobin, gross cystic disease fluid protein-15 (GCDFP-15) and GATA binding protein 3 (GATA3), the most common problem is differentiating the spread of MSCCB to the lung from a primary lung squamous cell carcinoma. It is urgently required to explore a novel marker to aid in differential diagnosis. Aim: The aim of this study is to explore a novel marker to aid in the differential diagnosis of MSCCB from other squamous cell carcinomas (SCC) in other organs. Methods: We tested the expression of SOX10 in 375 human SCC specimens with immunohistochemistry (IHC). Results: In a series of 20 MSCCB, 9 (45%) were positive for SOX10. All of them were triple-negative MSCCB. Conversely, SOX10 was totally negative in another 205 SCC originating from lung, skin, cervix, oral mucosa, and esophagus. In a series of 150 triplenegative breast cancer and their metastatic foci, SOX10 labeling in the primary tumor and metastasis was 78% and 79.3%, respectively, and the agreement rate was 97.3% (P>0.05). Conclusion: Our findings demonstrate that SOX10 was recommended for differentiating MSCCB from non-mammary metastasis to the breast, as well as for distinguishing primary SCC from metastatic MSCCB, and SOX10 may be valuable in the pathological diagnosis of breast-derived metaplastic squamous cell carcinoma.

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“…The positivity for p63 and negativity for neuroendocrine markers also distinguishes basaloid SCC from the rare entity of HPV-associated neuroendocrine carcinoma of the oropharynx, which has the opposite immunophenotype [ 53 , 54 ]. Interestingly, a recent study of basaloid SCC showed that a majority of tumors were positive for SOX10 [ 55 ], a feature shared with most cylindromas [ 56 , 57 ], as well as some many other cutaneous adnexal tumors and salivary gland tumors [ 58 ].…”

Section: Discussionmentioning

confidence: 99%

CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features

Williams¹,

Montesion²,

Alexander³

et al. 2021

Modern Pathology

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Mutations in the tumor suppressor CYLD, known to be causative of cylindromas, were recently described in a subset of highrisk (hr) HPV-positive head and neck squamous cell carcinomas (HNSCC). Pathologic and genetic characterization of these CYLD-mutant carcinomas, however, remains limited. Here, we investigated whether CYLD mutations characterize a histopathologically and genomically distinct subset of hrHPV-positive HNSCC. Comprehensive genomic profiling via hybrid capture-based DNA sequencing was performed on 703 consecutive head and neck carcinomas with hrHPV sequences, identifying 148 unique cases (21%) harboring CYLD mutations. Clinical data, pathology reports, and histopathology were reviewed. CYLD mutations included homozygous deletions (n = 61/148; 41%), truncations (n = 52; 35%), missense (n = 26; 18%) and splice-site (n = 9; 6%) mutations, and in-frame deletion (n = 1; 1%). Among hrHPVpositive HNSCC, the CYLD-mutant cohort showed substantially lower tumor mutational burden than CYLD-wildtype cases (n = 555) (median 2.6 vs. 4.4 mut/Mb, p < 0.00001) and less frequent alterations in PIK3CA (11% vs. 34%, p < 0.0001), KMT2D (1% vs. 16%, p < 0.0001), and FBXW7 (3% vs. 11%, p = 0.0018). Male predominance (94% vs. 87%), median age (58 vs. 60 years), and detection of HPV16 (95% vs. 89%) were similar. On available histopathology, 70% of CYLD-mutant HNSCC (98/141 cases) contained hyalinized material, consistent with basement membrane inclusions, within crowded aggregates of tumor cells. Only 7% of CYLD-wildtype cases demonstrated this distinctive pattern (p < 0.0001). Histopathologic patterns of CYLD-mutant HNSCC lacking basement membrane inclusions included nonkeratinizing (n = 22, 16%), predominantly nonkeratinizing (nonkeratinizing SCC with focal maturation; n = 10, 7%), and keratinizing (n = 11, 8%) patterns. The latter two groups showed significantly higher frequency of PTEN alterations compared with other CYLD-mutant cases (38% [8/21] vs. 7% [8/120], p = 0.0004). Within our cohort of hrHPV-positive HNSCCs, CYLD mutations were frequent (21%) and demonstrated distinctive clinical, histopathologic, and genomic features that may inform future study of prognosis and treatment.

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SOX10 Immunoexpression in Basaloid Squamous Cell Carcinomas: A Diagnostic Pitfall for Ruling out Salivary Differentiation

Cited by 28 publications

References 28 publications

Challenges in Minor Salivary Gland Biopsies: A Practical Approach to Problematic Histologic Patterns

Challenges in Minor Salivary Gland Biopsies: A Practical Approach to Problematic Histologic Patterns

<p>SOX10 – A Novel Marker for the Differential Diagnosis of Breast Metaplastic Squamous Cell Carcinoma</p>

CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features

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