Metastatic Syringocystadenocarcinoma Papilliferum: A Case Report, Tumor Genomic Profiling, and Literature Review

Abstract

Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare cutaneous neoplasm of the apocrine or eccrine sweat glands. Solid and cystic glandular structures with cribriform and tubular architecture along with CK5/6, pankeratin and p63 immuno-profile set apart SCACP from other cutaneous malignancies. Wide local excision (WLE) has been the mainstay treatment for localized SCACP; however, no standard treatment has yet been established for unresectable or metastatic disease. Herein, we report a 74-year-old male with SCACP, who initially presented with a painful nodule on the upper back and later developed metastatic disease. He was treated with carboplatin and paclitaxel with concurrent intensity-modulated radiation therapy (IMRT), which resulted in disease stabilization for 12 months. Next generation sequencing (NGS) revealed a total of 18 genomic alterations associated with potential benefit from targeted therapeutics. PD-L1 expression was identified in 70% of tumor cells. These findings suggest that the opportunity of targeted therapeutics and immunotherapy exist as for metastatic SCACP. Reporting molecular profile of the rare tumors with no established standard treatment options should be encouraged.

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

“…Most tumors are resistant to radiotherapy and chemotherapy [ 11 , 54 , 57 , 80 , 88 , 97 , 294 , 300 ]. Primary or adjuvant radiotherapy may be considered in patients with microcystic adnexal carcinoma, and some cases of syringocystadenocarcinoma papilliferum, malignant mixed tumor, digital papillary adenocarcinoma, or signet-ring cell/histiocytoid carcinoma were also treated with successful radiation therapy [ 3 , 43 , 47 , 82 , 112 , 116 , 117 , 170 , 171 , 198 ]. Chemotherapy might be beneficial in patients with metastatic disease [ 87 , 151 ].…”

“…Only a few adnexal malignancies show a favorable prognosis, and no cases of recurrent or metastatic disease were reported [183,189,193,195]. [151,[154][155][156]321] A: 45-70 [151] Squamoid eccrine ductal carcinoma R ND [162,322] ND [161,162,322] Syringocystadenocarcinoma papilliferum R LD [170,172] LD [170][171][172] Secretory carcinoma R ND [183] ND [183] Cribriform carcinoma R ND [189,190,193] ND [189,193] Signet-ring cell/histiocytoid carcinoma R NA, A-conventional and targeted therapy (HER2 inhibitors, tamoxifen, anti-androgen) [23,197,199,204] NA, A [24,197,199,203,204] Hidrocystoma/cystadenoma R ND ND In a recent single-institution experience report, the median overall survival (OS) was 158 months (95% CI, . 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).…”

“…MMS may be performed as well [ 169 ]. In some cases, radiation (to the local recurrence after re-excision) or chemoradiation (cisplatin with irradiation up to a dose of 59.4 Gy in 33 fractions) was successfully performed ( Table 2 ) [ 170 , 171 ]. However, recurrences are possible, and until now, there are no reliable clinical or histological indicators to determine the prognosis.…”

A rare case of syringocystadenocarcinoma papilliferum of the breast: An institutional retrospective case review and brief literature review

“…Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare cutaneous adnexal neoplasm with fewer than 50 reported cases since it was first described by Dissanayake et al in 1980. 1,2 SCACP usually present as nodular masses, and are thought to originate from apocrine glands, eccrine sweat glands, or pluripotent appendageal glands. 1,3 Histopathologically, SCACP usually consists of solid and cystic papilliferous and glandular structures with tubular and cribriform architecture.…”

“…3 Immunophenotypically, the tumor cells stain positively for pankeratin, CK5/6, and p63. 1 Many SCACP are thought to develop from a pre-existing SCAP.…”