Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis

Jiang, Ruoyi; Marquez, Jonathan; Tower, Jacob I.; Jacobs, Daniel; Chen, Wenqian; Mehra, Saral; Prasad, Manju L.; Judson, Benjamin L.

doi:10.21873/anticanres.14658

Cited by 14 publications

(18 citation statements)

References 13 publications

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“…While MACs share low‐grade cytologic features, they differ from the current tumor microscopically and genetically. They typically display syringomatous and/or ductal differentiation and tend to be associated with a range of genetic aberrations not seen in our case 38,39 …”

Section: Discussionmentioning

confidence: 64%

Skin adnexal carcinoma with BRD3‐NUTM2B fusion

et al. 2021

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NUT carcinomas are genetically defined epithelial neoplasms. Most tumors harbor fusions of NUTM1 with BRD4 or BRD3. Their histopathologic features have been predominantly reported as undifferentiated or poorly differentiated squamous cell carcinoma, and clinically they tend to be aggressive cancers. However, recent studies have revealed a broader spectrum of NUTM1‐rearranged neoplasms with several new fusion partners and associated variable histopathologic phenotypes and clinical behaviors, including benign and malignant cutaneous poroid tumors. We report herein a primary invasive carcinoma of skin adnexal origin with a previously undescribed fusion between BRD3 and NUTM2B. The tumor occurred on the shoulder of a 7‐year‐old girl and was excised with negative margins. A sentinel lymph node was positive. After follow‐up of 23 months, and without systemic treatment, the child remains free of tumor. This case expands the spectrum of NUT carcinomas by including a skin adnexal variant with follicular infundibular differentiation, a novel genomic aberration, and preliminary evidence of a less aggressive clinical course.

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Section: Discussionmentioning

confidence: 64%

Skin adnexal carcinoma with BRD3‐NUTM2B fusion

et al. 2021

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“… [14] 51 M Tongue Not stated Excision Disease free (38) 18 Jiang et al. [15] 41 F Tongue Not stated Excision Not stated 19 Tan et al. [16] 73 M Left parotid gland Not stated Excision Disease free (4) 20 Elizabath et al.…”

Section: Discussionmentioning

confidence: 99%

“…proposed the term “sclerosing microcystic adenocarcinoma (SMA)” for a rare malignant tumor occurring in the salivary glands, closely resembling cutaneous MAC [11] . To our knowledge, 21 cases of SMA have been reported, but none have evaluated the magnetic resonance imaging (MRI) findings of SMA in detail [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] . Here, we report an additional case of SMA of the floor of the mouth and discuss its MRI findings.…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging findings of sclerosing microcystic adenocarcinoma: A case report and review of the literature

Fujii

Noguchi

Miura

et al. 2023

Radiology Case Reports

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“…Age > 60 years was an unfavorable predictor of OS (HR 12.9, p < 0.0008) and recurrence-free survival (RFS) (HR 12.53, p < 0.0003). At the same time, nodal metastasis was a negative predictor of RFS (HR 2.37, p < 0.04) and disease-specific survival (HR 7.2, p < 0.03) [ 323 ].…”

Section: Discussionmentioning

confidence: 99%

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

Płachta

Kleibert

Czarnecka

et al. 2021

IJMS

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Adnexal tumors of the skin are a rare group of benign and malignant neoplasms that exhibit morphological differentiation toward one or more of the adnexal epithelium types present in normal skin. Tumors deriving from apocrine or eccrine glands are highly heterogeneous and represent various histological entities. Macroscopic and dermatoscopic features of these tumors are unspecific; therefore, a specialized pathological examination is required to correctly diagnose patients. Limited treatment guidelines of adnexal tumor cases are available; thus, therapy is still challenging. Patients should be referred to high-volume skin cancer centers to receive an appropriate multidisciplinary treatment, affecting their outcome. The purpose of this review is to summarize currently available data on pathogenesis, diagnosis, and treatment approach for apocrine and eccrine tumors.

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Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis

Cited by 14 publications

References 13 publications

Skin adnexal carcinoma with BRD3‐NUTM2B fusion

Skin adnexal carcinoma with BRD3‐NUTM2B fusion

Magnetic resonance imaging findings of sclerosing microcystic adenocarcinoma: A case report and review of the literature

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

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