Abnormal Adrenal Mass Presents as Proximal Epithelioid Sarcoma

Martinez, Valeria Pereira; Nicholson, Marilin; Patel, Trushar

doi:10.1155/2020/8864218

Cited by 5 publications

(12 citation statements)

References 5 publications

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“…There were only 3 cases of primary MRT and 4 cases of primary ES in the adrenal gland reported in the English literature (Table 1). [8][9][10][11][12][13][14] Only 1 of the 3 MRT cases occurred in a patient younger than 5 years. All 4 ES cases occurred in patients older than 10 years.…”

Section: Discussionmentioning

confidence: 99%

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

et al. 2021

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Malignant rhabdoid tumor (MRT) is a rare, SWItch/sucrose nonfermentable-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 ( SMARCB1)-deficient, aggressive tumor, occurring predominantly in children below 3 years of age. Primary adrenal MRT is extremely rare, with only 3 cases reported in the literature. A previously healthy 14-year-old female presented with left upper quadrant/epigastric abdominal pain. Imaging studies revealed an 8.0 × 8.0 × 6.5 cm, heterogeneous, partially enhancing mass along the superior margin of the left kidney encasing the adrenal gland. Surgical resection of the tumor revealed a hypercellular heterogeneous neoplasm arising from the adrenal gland. It was composed predominantly of primitive small round blue cells with focal true rosettes and areas of vague glandular epithelial differentiation and chondroid differentiation. Classic rhabdoid-type cytoplasmic inclusions were focally present. Mitoses, tumor necrosis, and hemorrhage were readily seen. Tumor cells showed complete loss of SMARCB1 (INI1) nuclear staining, demonstrated strong, and diffuse positivity for glypican 3, patchy positivity for CD99, cytokeratin, Sal-like protein 4, Lin-28 homolog A, epithelial membrane antigen, and S100. Molecular studies revealed biallelic frameshift mutations in the SMARCB1 gene (c.673delG and c.683dupT) without pathogenic copy number aberrations. The histologic, immunohistochemical, and molecular findings support a diagnosis of MRT. The unusual age, location, and mutations of this case expand the clinicopathologic and molecular spectrum of MRT.

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Section: Discussionmentioning

confidence: 99%

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

et al. 2021

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“…Of proximal ES arising from the adrenal gland, three out of four cases have been reported in female patients and occurred in the left adrenal gland [4][5][6]. Half of the adrenal cases had suspected lymph node involvement at resection [4][5][6]. In both instances, those with lymph node involvement had recurrence or progression of disease after surgical resection [4,5].…”

Section: Discussionmentioning

confidence: 99%

“…SMARCB1/INI1 deficient proximal ES in adults have been documented in various gastrointestinal, genitourinary, neurological, and cutaneous locations [1,3]. However, very few cases in the literature have described these malignancies arising from the adrenal gland [4][5][6]. While a loss of SMARCBI/INI1 links these tumors, little is understood regarding other relationships [1].…”

Section: Introductionmentioning

confidence: 99%

An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report

Brodie¹,

McCartney²,

Toledo³

2022

Cureus

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Proximal epithelioid sarcomas are rare soft tissue sarcomas that have been documented in a diverse range of presentations. However, there have been few cases describing adrenal presentations. These neoplasms are thought to be driven by a loss of SWItch/sucrose non-fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), also known as integrase interactor 1 (INI1). SMARCB1/INI1 is a tumor suppressor gene thought to play a role in multiple malignancies with varying degrees of gene expression. Complete loss of SMARCB1/INI1 has most commonly been described in the English scientific literature as malignant rhabdoid tumors of renal origin within pediatric populations and proximal epithelioid sarcomas in adult populations. We describe a case of a primary adrenal proximal epithelioid sarcoma demonstrating complete loss of SMARCB1/INI1 in a middleaged adult female.

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“…During cycle 3, the disease progressed, and in spite of the treatment with tazemetostat, an activating enhancer of zeste homolog 2 (EZH2) inhibitor for ES, the patient died 2 months later after the therapy. Recently, Martinez et al ( 11 ) reported the third adrenal ES case in an 82-year-old female. The patient underwent extensive surgical excision.…”

Section: Discussionmentioning

confidence: 99%

“…The present study reported a rare case of proximal adrenal ES in a Chinese male adult. To the best of our knowledge, only 3 adult cases of this disease have been reported (9)(10)(11) and this is the first report of effective treatment with immune checkpoint inhibitors (ICIs) in advanced adrenal ES.…”

Section: Introductionmentioning

confidence: 99%

Response to immunotherapy in a patient with advanced epithelioid sarcoma of adrenal gland: A case report

2022

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Epithelioid sarcoma (ES) is a rare and highly invasive soft tissue malignant tumor with uncertain histogenesis. The localization of ES in the adrenal gland is rather unusual. The present study reported a case of stage IV ES in the adrenal gland of a 28-year-old male. The tissue biopsy of adrenal and lung lesions revealed epithelioid cells. Immunohistochemistry indicated that the tumor cells were strongly positive for cytokeratin (CK)8, CK, epithelial membrane antigen (EMA), CD34 and programmed cell death protein 1 ligand (PD-L1) but negative for nuclear integrase interactor 1 expression. The next-generation sequencing technology was applied using peripheral blood, indicating a low tumor mutation burden of 4.11 mutations (Muts)/Mb and somatic mutations in SMARCB1 . After diagnosis, the patient underwent unsuccessful palliative chemotherapy and radiotherapy. However, application of immune checkpoint inhibitors (ICIs) achieved partial remission and the overall survival reached 25 months. ICI monotherapy may be a feasible treatment for patients with ES with a strong expression of PD-L1.

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Abnormal Adrenal Mass Presents as Proximal Epithelioid Sarcoma

Cited by 5 publications

References 5 publications

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review

An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report

Response to immunotherapy in a patient with advanced epithelioid sarcoma of adrenal gland: A case report

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