Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Case-Series of a Rare and Challenging Diagnosis

Bal, Munita; Shah, Aekta; Rekhi, Bharat; Mittal, Neha; Rane, Swapnil; Rabade, Katha; Shetty, Omshree; Pantavaidya, G.; Nair, Deepa; Prabhash, Kumar; Aishwarya, M.; Govindarajan, Krishna Kumar; Laskar, Siddhartha; Laskar, Sarbani Ghosh; Patil, Asawari

doi:10.1007/s12105-022-01412-1

Cited by 11 publications

(12 citation statements)

References 44 publications

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“…Strong keratin reactivity can lead to the misdiagnosis of carcinoma with basaloid features, further confounded by the reactivity for p16 that can occasionally be observed 1 . Analogous findings are reported in the recent study by Bal et al., who also praise the role of NKX2.2 and FLI1 immunohistochemistry to help differentiate ALES from its close mimics 24 …”

Section: Discussionsupporting

confidence: 70%

“…1 Analogous findings are reported in the recent study by Bal et al, who also praise the role of NKX2.2 and FLI1 immunohistochemistry to help differentiate ALES from its close mimics. 24 In the salivary glands, ALES has to be distinguished from basaloid neoplasms such as adenoid cystic carcinoma, myoepithelial carcinoma, 25 basal cell adenocarcinoma, 26 and in paediatric patients sialoblastoma. 27 ALES of the salivary glands can show less palisading and keratinization, as well as more frequent synaptophysin expression than in nonsalivary, clues that can be diagnostically useful.…”

Section: Discussionmentioning

confidence: 99%

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Transcriptomic and immunophenotypic characterization of two cases of adamantinoma‐like Ewing sarcoma of the thyroid gland

et al. 2023

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IntroductionAdamantinoma‐like Ewing sarcoma (ALES) is a rare aggressive malignancy occasionally diagnosed in the thyroid gland. ALES shows basaloid cytomorphology, expresses keratins, p63, p40, frequently CD99, and harbours the t(11;22) EWSR1::FLI1 translocation. There is debate on whether ALES resembles more sarcoma or carcinoma.MethodsWe performed RNA sequencing from two ALES cases and compared findings with skeletal Ewing's sarcomas and nonneoplastic thyroid tissue. ALES was investigated by in situ hybridization (ISH) for high‐risk human papillomavirus (HPV) DNA and immunohistochemistry for the following antigens: keratin 7, keratin 20, keratin 5, keratins (AE1/AE3 and CAM5.2), CD45, CD20, CD5, CD99, chromogranin, synaptophysin, calcitonin, thyroglobulin, PAX8, TTF1, S100, p40, p63, p16, NUT, desmin, ER, FLI1, INI1, and myogenin.ResultsAn uncommon EWSR1::FLI transcript with retained EWSR1 exon 8 was detected in both ALES cases. Regulators of EWSR1::FLI1 splicing (HNRNPH1, SUPT6H, SF3B1) necessary for production of a functional fusion oncoprotein, as well as 53 genes (including TNNT1, NKX2.2) activated downstream to the EWSR1::FLI1 cascade, were overexpressed. Eighty‐six genes were uniquely overexpressed in ALES, most of which were related to squamous differentiation. Immunohistochemically, ALES strongly expressed keratins 5, AE1/AE3 and CAM5.2, p63, p40, p16, and focally CD99. INI1 was retained. The remaining immunostains and HPV DNA ISH were negative.ConclusionComparative transcriptomic profiling reveals overlapping features of ALES with skeletal Ewing's sarcoma and an epithelial carcinoma, as evidenced by immunohistochemical expression of keratin 5, p63, p40, CD99, the transcriptome profile, and detection of EWSR1::FLI1 fusion transcript by RNA sequencing.

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Section: Discussionsupporting

confidence: 70%

Section: Discussionmentioning

confidence: 99%

Transcriptomic and immunophenotypic characterization of two cases of adamantinoma‐like Ewing sarcoma of the thyroid gland

et al. 2023

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“…19,20 Apart from the third case, NKX2.2 was negative in the first case, that seemed to lessen the possibility of Ewing sarcoma, although rarely, Ewing sarcomas lacking NKX2.2 have been reported. [21][22][23] The other differentials on histopathologic examination that might be considered include fibroblastic osteosarcoma, leiomyosarcoma, and rhabdomyosarcoma with a spindle cell component, the latter considered in the fifth case. The aforementioned immunohistochemical profile helped rule out these entities.…”

Section: Adamantinomas Characterized By Predominant Spindle Cells Hav...mentioning

confidence: 99%

Adamantinoma with a Prominent Spindle Cell Component Mimicking Intraosseous Synovial Sarcoma: Clinicopathological Features of Six Tumors

et al. 2022

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Introduction. Adamantinoma is sub-classified into classic/biphasic, osteofibrous dysplasia-like, and de-differentiated type. We present six adamantinomas with a prominent spindle cell component mimicking intraosseous synovial sarcomas. Methods. Six patients were either referred with a diagnosis of intraosseous synovial sarcoma or wherein synovial sarcoma was a differential diagnosis. Three tumors were tested for SS18 gene rearrangement by FISH and two for SS18::SSX fusion by RT-PCR technique. Results. There were three males and three females with an average age of 20.6 years. Radiologically, the lesions were expansile and showed lytic and/or sclerotic components, involving the cortex and/or medulla. Five lesions occurred in the tibia and two in the fibula. Two tumors displayed soft tissue extension and two occurred as multifocal lesions. Two patients were diagnosed with synovial sarcoma and a single patient with sarcomatoid carcinoma, elsewhere. Two “in-house” patients were initially diagnosed with synovial sarcomas. On review, all tumors were cellular comprising monomorphic spindle-shaped cells arranged in sheets and fascicles (n = 6), including a “herringbone-like” pattern (n = 3), focal tubules (n = 1), cohesive nests (n = 5), cords (n = 2), including pseudocystic component (n = 2). Immunohistochemically, tumor cells were positive for p63 (6/6), p40 (4/4), EMA (2/3), AE1/AE3 (5/6), various keratins (2/2), and TLE1 (2/4). Three tumors tested for SS18 rearrangement were negative, while two tumors tested for SS18::SSX fusion were negative. Conclusions. Adamantinomas with spindle cell morphology display overlapping features with synovial sarcoma. A clinico-radiological index of suspicion immunostains (p63 and p40) and molecular test for t(X; 18) translocation are useful in an exact diagnosis, which has treatment-related implications.

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“…1 , 3 Originally described in the long bones and thorax, ALES is now known to primarily affect the head and neck region, with a peculiar predilection for salivary glands, thyroid, and sinonasal tract. 4 – 8 …”

Section: Introductionmentioning

confidence: 99%

Adamantinoma-like Ewing sarcoma of the salivary glands: a case report and systematic literature review

et al. 2023

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Adamantinoma-like Ewing sarcoma (ALES) of the salivary glands is an exceedingly rare malignancy defined by the t(11,22) EWSR1::FLI1 fusion, with complex epithelial differentiation. To identify features that can allow for better recognition of this disease entity, we reviewed all published reports of molecularly confirmed ALES of the salivary glands and explored epidemiological, clinical, radiological, pathological, and therapeutic characteristics of a population of 21 patients including a single newly reported patient from our group. We searched the English-language literature indexed in PubMed, Medline, Scopus, and Web of Science using the keyword ‘Adamantinoma-like Ewing sarcoma’ published up to June 2022. The median age at diagnosis was 46 years, and a slight female sex predilection was observed. Most tumors originated in the parotid gland (86%) and presented as a painless palpable mass with a median diameter of 3.6 cm. Metastatic dissemination was reported only in one patient (5%), and after a median follow-up of 13 months the 1-year overall survival rate was 92%. Salivary gland ALES were frequently misdiagnosed at presentation (62% of cases) and were pathologically characterized by the presence of highly monomorphic small round blue cells with infiltrative pattern and positive immunostaining for CD99 and high- and low-molecular weight cytokeratins. Epidemiological and clinical features of salivary gland ALES raise questions on the incorporation of this malignancy in the Ewing sarcoma family tumor group.

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Adamantinoma-Like Ewing Sarcoma of the Head and Neck: A Case-Series of a Rare and Challenging Diagnosis

Cited by 11 publications

References 44 publications

Transcriptomic and immunophenotypic characterization of two cases of adamantinoma‐like Ewing sarcoma of the thyroid gland

Transcriptomic and immunophenotypic characterization of two cases of adamantinoma‐like Ewing sarcoma of the thyroid gland

Adamantinoma with a Prominent Spindle Cell Component Mimicking Intraosseous Synovial Sarcoma: Clinicopathological Features of Six Tumors

Adamantinoma-like Ewing sarcoma of the salivary glands: a case report and systematic literature review

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