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Imaging Appearance of SMARCB1 (INI1)-Deficient Sinonasal Carcinoma: A Newly Described Sinonasal Malignancy.

ABSTRACT: SMARCB1 (INI1)-deficient sinonasal carcinomas were first described in 2014, and this series of 17 cases represents the first imaging description. This tumor is part of a larger group of SMARCB1-deficient neoplasms, characterized by aggressive behavior and a rhabdoid cytopathologic appearance, that affect multiple anatomic sites. Clinical and imaging features overlap considerably with other aggressive sinonasal malignancies such as sinonasal undifferentiated carcinoma, which represents a common initial pathologic diagnosis in this entity. SMARCB1 (INI1)-deficient sinonasal tumors occurred most frequently in the nasoethmoidal region with invasion of the adjacent orbit and anterior cranial fossa. Avid contrast enhancement, intermediate to low T2 signal, and FDG avidity were frequent imaging features. Approximately half of the lesions demonstrated calcification, some with an unusual "hair on end" appearance, suggesting aggressive periosteal reaction.

SUBMITTER: Shatzkes DR

PROVIDER: S-EPMC7960454 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Imaging Appearance of SMARCB1 (INI1)-Deficient Sinonasal Carcinoma: A Newly Described Sinonasal Malignancy.

Shatzkes D R DR Ginsberg L E LE Wong M M Aiken A H AH Branstetter B F BF Michel M A MA Aygun N N

AJNR. American journal of neuroradiology 20160707 10

SMARCB1 (INI1)-deficient sinonasal carcinomas were first described in 2014, and this series of 17 cases represents the first imaging description. This tumor is part of a larger group of SMARCB1-deficient neoplasms, characterized by aggressive behavior and a rhabdoid cytopathologic appearance, that affect multiple anatomic sites. Clinical and imaging features overlap considerably with other aggressive sinonasal malignancies such as sinonasal undifferentiated carcinoma, which represe ...[more]

PMID: 27390322

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Project description:(1) Background: SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare sinonasal malignancy; since its discovery and description in 2014, less than 200 cases have been identified. It is almost impossible to perform randomized-controlled trials on novel therapy to improve treatment outcomes in view of its rarity. We performed a systematic review of all the published case reports/series and included our patients for survival analysis. (2) Methods: In this systematic review, we searched from PubMed-MEDLINE, EMBASE, Scopus, Cochrane Library, CINAHL, and Google Scholar for individual patient data to identify and retrieve all reported SMARCB1-deficient sinonasal carcinoma. Clarification on treatment details and the most updated survival outcomes from all authors of the published case reports/series were attempted. Survival analysis for overall survival (OS) and identification of OS prognostic factors were performed. This systematic review was registered with PROSPERO (CRD42022306671). (3) Results: A total of 67 publications were identified from the systematic review and literature search. After excluding other ineligible and duplicated publications, 192 patients reported were considered appropriate for further review. After excluding duplicates and patients with incomplete pretreatment details and survival outcomes, 120 patients were identified to have a complete set of data including baseline demographics, treatment details, and survival outcomes. Together with 8 patients treated in our institution, 128 patients were included into survival analysis. After a median follow up of 17.5 months (range 0.3-149.0), 50 (46.3%) patients died. The 1-year, 2-year and 3-year OS rates were 84.3% (95% CI % 77.6-91.0), 62.9% (95% CI 53.1-72.7), and 51.8% (95% CI 40.8-62.8), respectively, and the median OS was 39.0 months (95% CI 28.5-49.5). Males (p = 0.029) and T4b disease (p = 0.013) were significant OS prognostic factors in univariable analysis, while only T4b disease (p = 0.017) remained significant in multivariable analysis. (4) Conclusions: SMARCB1-deficient sinonasal carcinoma is an extremely aggressive sinonasal malignancy with a dismal prognosis. Early diagnosis and a multimodality treatment strategy are essential for a better treatment and survival outcome.

Project description:Loss of function in SMARCB1/INI1 has been observed in a group of malignancies collectively defined as SMARCB1/INI1-deficient neoplasms. Primary intracranial SMARCB1/INI1-deficient tumors in adults are extremely rare. We collected eight primary adult sellar SMARCB1/INI1-deficient tumors to study their clinicopathological and (epi)genetic characteristics. We performed a comprehensive assessment of the clinical, radiological, morphological and immunohistochemical features. FISH analysis for the SMARCB1 locus and target exome sequencing for 425 cancer relevant genes were performed. Furthermore, six bona fide proximal epithelioid sarcoma (PES), fourteen atypical teratoid/rhabdoid tumors (ATRT) in brain and five pediatric poorly differentiated chordomas (PDC) in the clivus were collected for comparative analysis of differential diagnostic maker expression and DNA methylation profile. The median age was 47.1 years, ranging from 26 to 73 years. On morphology, tumors were characterized by sheets of monomorphic larger epithelioid-like cells, in two cases with rhabdoid cells. "Stag-horn" vasculatures were observed in five cases. The loss of INI1 protein expression, co-expression of epithelial makers and mesenchymal markers were observed in all cases. CD34 expression was observed in six cases. Heterozygous deletion of SMARCB1/INI1 was confirmed using FISH in six cases. The results of target exome sequencing showed three patients harbored heterozygous point mutations in SMARCB1. The epigenetic features of the primary adult sellar SMARCB1/INI1-deficient tumors resembled the ATRT-MYC subgroup, but clustered apart from PES and PDC. Based on epigenetic characteristics, primary adult sellar SMARCB1/INI1-deficient tumors represent a subtype of ATRT with similar epigenetic characteristics of ATRT-MYC subgroup. Our findings suggest that DNA methylation profiling should be utilized for differential diagnosis for the majority of epithelioid sarcoma and (sellar) rhabdoid tumor.

Project description:In the present study, a 36-year-old male presented with left scrotal enlargement without an obvious cause, accompanied by a feeling of heaviness. Imaging examinations revealed a left testicular malignancy, the patient underwent left testicular mass removal,and the postoperative pathology results revealed a highly malignant germ cell tumor, with a tendency toward poorly differentiated embryonal carcinoma or seminoma. After surgery, the condition of the patient deteriorated rapidly, and distant tumor metastasis occurred. Lymph node puncture pathology results revealed poorly differentiated carcinoma consistent with SMARCB1/INI-1 deletion. Despite the use of chemotherapy, radiotherapy, immunotherapy and targeted therapy, the patient died 11 months after surgery. To the best of our knowledge, this is the first case report of a SMARCB1/INI1-deficient Poorly differentiated testicular carcinoma, which is very similar to testicular spermatocytic carcinoma in clinical diagnosis and deserves differentiation for future clinical diagnoses.This report provides important insights into the diagnosis and treatment of SMARCB1/INI1-deficient testicular malignancy. SMARCB1 is a crucial tumor suppressor gene, and its deficiency is closely associated with the development of various malignant tumors. The identification of this case suggests that future research should further explore the molecular mechanisms of SMARCB1-deficient tumors, particularly their role in testicular malignancies. Additionally, the diagnostic process of this case highlights that SMARCB1/INI1-deficient tumors can be clinically very similar to spermatocytic carcinoma of the testis, which can easily lead to misdiagnosis. Therefore, future clinical practice should emphasize the detection of SMARCB1/INI1 expression status, especially in the context of highly aggressive and rapidly progressing testicular malignancies, where immunohistochemical testing for SMARCB1/INI1 should be considered to confirm the diagnosis. In terms of treatment, this case demonstrates the highly aggressive nature and resistance to conventional therapies of SMARCB1/INI1-deficient tumors. Despite the patient receiving multiple treatments, disease progression could not be halted. This underscores the need for the development of novel therapeutic strategies targeting SMARCB1/INI1-deficient tumors, such as combinations of immune checkpoint inhibitors and targeted therapies, or other emerging immunotherapeutic approaches. Moreover, the treatment course of this patient also reflects the importance of individualized treatment plans. Future research should further explore precision medicine strategies based on tumor genetic profiles to improve patient survival rates and quality of life.

Dataset Information

Imaging Appearance of SMARCB1 (INI1)-Deficient Sinonasal Carcinoma: A Newly Described Sinonasal Malignancy.

Publications

Imaging Appearance of <i>SMARCB1</i> (INI1)-Deficient Sinonasal Carcinoma: A Newly Described Sinonasal Malignancy.

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