Endocrine mucin-producing sweat gland carcinoma with regional metastases in an African American female

Mattia, Alexzandra; Thompson, Anthony W.; Green, William Harris; Cognetta, Armand B.

doi:10.1016/j.jdcr.2023.03.012

Cited by 3 publications

(3 citation statements)

References 6 publications

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“…Endocrine mucin-producing sweat gland carcinoma was previously believed to be a low-grade neuroendocrine neoplasm with an indolent clinical course and a low rate of recurrence (<10%) following excision [2,3,5,12]. There have now been seven reported cases since 2020 of metastases, including this case, with the majority metastasizing to the parotid gland and none metastasizing to the lungs [3,7,8]. It is important to differentiate this lesion from mucinous carcinoma and breast solid papillary carcinoma with neuroendocrine differentiation (SPCND).…”

Section: Discussionmentioning

confidence: 83%

“…The current suggested treatment is surgical excision alone [6]. Prior to 2020, this entity was believed to be non-metastasizing, and since then there have only been six reported cases of metastatic disease [3,[7][8][9][10][11], primarily to the parotid gland, with one also showing metastases to a rib and one with more systemic involvement. All cases have occurred after a prolonged clinical interval.…”

Section: Introductionmentioning

confidence: 99%

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Metastatic Endocrine Mucin-Producing Sweat Gland Carcinoma to the Lung: A Case Report

Fournier,

Russell,

Hossain

2023

Cureus

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Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade neuroendocrine neoplasm previously believed to be indolent in nature. There have only previously been six reported cases of metastases and none of thoracic structures. This case shows a metastatic EMPSGC in a 72-year-old male with a complex oncologic history and is the first reported case of metastases to the lung. As increased recognition of this entity continues to grow, it is important to consider it as part of the differential in mucinous and/or neuroendocrine neoplasms for appropriate management. This case adds to the oncologic literature by demonstrating a rare cutaneous neoplasm and emphasizing its metastatic potential.

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Section: Discussionmentioning

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Metastatic Endocrine Mucin-Producing Sweat Gland Carcinoma to the Lung: A Case Report

Fournier,

Russell,

Hossain

2023

Cureus

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“…32 SCAND frequently exhibits lymph node and distant metastases, particularly in large-sized tumor cases, unlike EMPSGC/NEMCS which is an indolent tumor. 11,12,[14][15][16] Histopathologically, infiltrative SCAND and expansive EMPSGC/MENCS differ. In addition, different immune profiles for the androgen receptor, c-Myb, and MUC2 were observed between the SCAND and EMPSGC/NEMCS groups.…”

Section: Discussionmentioning

confidence: 99%

Recurrent GATA3 P409Afs*99 Frameshift Extension Mutations in Sweat-gland Carcinoma With Neuroendocrine Differentiation

Goto,

Kiniwa,

Kukita

et al. 2024

American Journal of Surgical Pathology

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Sweat-gland carcinoma with neuroendocrine differentiation (SCAND) was recently proposed as a new cutaneous adnexal neoplasm with neuroendocrine differentiation; however, its genetics are not well known. Herein, we performed clinicopathologic and genetic analyses of 13 SCAND cases and 5 control cases of endocrine mucin-producing sweat gland carcinoma (EMPSGC). The SCAND group included 11 males and 2 females with a median age of 68 years (range, 50 to 80 y). All SCAND lesions occurred in the ventral trunk or genital area. Of the 13 SCAND cases, 9 and 5 exhibited lymph node and distant metastases, respectively. Three (23.1%) patients with SCAND died of the disease. In contrast, neither metastasis nor mortality was confirmed in the EMPSGC cases. Immunoexpression of the androgen receptor, c-Myb, and MUC2 was limited in SCAND, whereas EMPSGC frequently expressed these immunomarkers. GATA3 P409Afs*99 extension mutations were detected in 7 (53.8%) of the 13 SCAND cases, using Sanger or panel sequencing. All 7 SCAND cases with GATA3 mutations were located in the genital, inguinal, or lower abdominal regions, whereas 5 of the other 6 SCAND cases were located in the anterior upper to mid-trunk. No GATA3 mutations were detected in the EMPSGC cases (0/5, 0%). These clinicopathologic and genetic findings support SCAND as a tumor entity distinguishable from EMPSGC. In addition, the characteristic frameshift extension mutations in GATA3 contribute to the establishment of the tumor-type concept of SCAND.

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Hydrochlorothiazide

2023

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Endocrine mucin-producing sweat gland carcinoma with regional metastases in an African American female

Cited by 3 publications

References 6 publications

Metastatic Endocrine Mucin-Producing Sweat Gland Carcinoma to the Lung: A Case Report

Metastatic Endocrine Mucin-Producing Sweat Gland Carcinoma to the Lung: A Case Report

Recurrent GATA3 P409Afs*99 Frameshift Extension Mutations in Sweat-gland Carcinoma With Neuroendocrine Differentiation

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