Endocrine mucin-producing sweat gland carcinoma: Clinicopathologic, immunohistochemical, and molecular analysis of 11 cases with emphasis on MYB immunoexpression.

BACKGROUND: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare low-grade primary cutaneous sweat gland carcinoma with predilection for the periorbital skin in elderly female patients. METHODS: We describe 11 cases of EMPSGC using a broad panel of immunohistochemical markers including BerEP4, cytokeratin 7, CAM 5.2, synaptophysin, chromogranin, cytokeratin 20, Ki67, progesterone receptor, and estrogen receptor. Calponin (1A4) and p63 were used to detect surrounding myoepithelial cells. We also examined staining with a relatively new marker, MYB. Previous studies of MYB on EMPSGC remain limited. As mucin-rich basal cell carcinoma (BCC) represents a main differential diagnosis and primary cutaneous mucinous carcinoma (PCMC) could appear synchronous with EMPSGC, these lesions were also stained for MYB. RESULTS: We found strong and homogenous nuclear MYB-expression in 10 EMPSGC cases stained for MYB. MYB staining was not performed in one case. Furthermore, PCMC and mucin-rich BCCs did not express MYB. CONCLUSION: The strong nuclear MYB-positivity in EMPSGC could be useful as a new surrogate marker, especially in mucin-poor EMPSGC cases. Additionally, the staining of PCMC revealed absent MYB-expression leading to the conclusion that EMPSGC might not represent a precursor lesion for primary cutaneous mucinous carcinoma.

Melanotic PEComa of the Sinonasal Mucosa With NONO-TFE3 Fusion: An Elusive Mimic of Sinonasal Melanoma.

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal tumors with features of both smooth muscle and melanocytic differentiation, with or without true melanin pigment. The highly variable morphology of PEComas results in a broad differential diagnosis that is also dependent on anatomic site. A subset demonstrates rearrangements involving the TFE3 (Xp11) locus, which can be used in diagnostically difficult cases. Here we describe a case of a melanotic PEComa with NONO-TFE3 fusion occurring in the sinonasal mucosa, as demonstrated by both next-generation sequencing and molecular cytogenetic studies. This case is the first of its kind in the literature and only the second documented PEComa harboring a NONO-TFE3 rearrangement. In light of unequivocal molecular ancillary studies, this case illustrates that PEComa must enter the differential for pigmented lesions of the sinonasal mucosa, where malignant melanoma would be much more likely to occur.