DEK::AFF2 Fusion-Associated Squamous Cell Carcinoma: A Case Series with Literature Review on an Emerging and Challenging Entity.

IF 3.2 Q2 PATHOLOGY
Sara E Amin, James S Lewis, Julia A Bridge, Jen-Fan Hang, Udit Naik, Justin A Bishop, Karan Saluja
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引用次数: 0

Abstract

Purpose: DEK::AFF2 fusion-associated squamous cell carcinoma (DEK::AFF2 SCC), also reported in the literature as low-grade papillary sinonasal (Schneiderian) carcinoma (LGPSC), is a rare, primarily bland-appearing, but locally aggressive neoplasm. Morphologically, these tumors can closely resemble sinonasal papilloma (SP), especially on small or limited biopsy, often leading to misdiagnosis. DEK::AFF2 SCC is devoid of the underlying mutually exclusive EGFR or KRAS driver mutations of SP, suggesting it may represent a distinct unique entity.

Methods: In this study, we conducted a retrospective search of "unusual" SP reported either as atypical, dysplastic, or suspicious for malignant transformation at our institution in the last 13 years (2010-2023), to identify potential cases of DEK::AFF2 SCC.

Results: Of the 201 SP cases during this time period, 30 "unusual" SP cases were identified. On morphologic review of these 30 cases, 6 were worrisome for DEK::AFF2 SCC and were selected for AFF2 immunohistochemical stain (IHC), of which 3 cases were positive. All 3 AFF2 IHC positive cases were also positive for DEK::AFF2 fusion by fluorescence in situ hybridization (FISH), thereby, confirming IHC results.

Conclusions: This study highlights that AFF2 IHC can be an invaluable surrogate marker to FISH in identifying DEK::AFF2 SCC in challenging cases to avoid misdiagnosis. Detailed clinical and pathologic data were collected to gain a better understanding of this emerging challenging entity. A literature review was performed to enrich our knowledge of DEK::AFF2 SCC.

DEK::AFF2融合相关鳞状细胞癌:新出现的挑战性实体病例系列及文献综述。
目的:DEK::AFF2融合相关鳞状细胞癌(DEK::AFF2 SCC),也有文献报道为低级别乳头状鼻窦(Schneiderian)癌(LGPSC),是一种罕见的、主要表现平淡但具有局部侵袭性的肿瘤。从形态上看,这些肿瘤与鼻窦乳头状瘤(SP)非常相似,尤其是在小活检或局限性活检时,常常导致误诊。DEK::AFF2 SCC没有SP所具有的相互排斥的表皮生长因子受体(EGFR)或KRAS驱动突变,这表明它可能是一种独特的肿瘤:在这项研究中,我们对本机构在过去 13 年(2010-2023 年)中报告为非典型、发育不良或可疑恶性转化的 "异常 "SP 进行了回顾性检索,以确定 DEK::AFF2 SCC 的潜在病例:结果:在这一时期的201例SP病例中,发现了30例 "不寻常 "的SP病例。对这 30 例病例进行形态学检查后,6 例疑似 DEK::AFF2 SCC,并被选中进行 AFF2 免疫组化染色 (IHC),其中 3 例为阳性。所有 3 例 AFF2 IHC 阳性病例的荧光原位杂交(FISH)结果均为 DEK::AFF2 融合阳性,从而证实了 IHC 结果:本研究强调,AFF2 IHC可作为FISH的替代标记物,在高难度病例中鉴别DEK::AFF2 SCC,避免误诊。我们收集了详细的临床和病理数据,以便更好地了解这种新出现的具有挑战性的实体。为了丰富我们对DEK::AFF2 SCC的了解,我们还进行了文献综述。
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来源期刊
CiteScore
5.70
自引率
9.50%
发文量
99
期刊介绍: Head & Neck Pathology presents scholarly papers, reviews and symposia that cover the spectrum of human surgical pathology within the anatomic zones of the oral cavity, sinonasal tract, larynx, hypopharynx, salivary gland, ear and temporal bone, and neck. The journal publishes rapid developments in new diagnostic criteria, intraoperative consultation, immunohistochemical studies, molecular techniques, genetic analyses, diagnostic aids, experimental pathology, cytology, radiographic imaging, and application of uniform terminology to allow practitioners to continue to maintain and expand their knowledge in the subspecialty of head and neck pathology. Coverage of practical application to daily clinical practice is supported with proceedings and symposia from international societies and academies devoted to this field. Single-blind peer review The journal follows a single-blind review procedure, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous. Single-blind peer review is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.
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