Diagnostic and treatment challenges of a case of primary cutaneous signet-ring cell/histiocytoid carcinoma of the eyelid

Abstract

Background Primary cutaneous signet-ring cell/histiocytoid carcinoma of the eyelid is an extremely rare but aggressive neoplasm diagnosed primarily in elderly men. Until now there are 32 published cases of signet-ring cell carcinoma or histiocytoid carcinoma of the eyelid. We report the clinical, radiographic and histological features of the 33rd reported case of PCSRCC in the eyelid of a 73-year-old male, and review diagnostic and treatment challenges of this rare entity. Case presentation Our case highlights a 73-year-old male who was referred for surgical correction of right eye ptosis that was present for 2 years. Upon assessment, he was noted to have an upper lateral orbital rim mass. Computed tomography (CT) noted ill-defined soft tissue thickening anterior to the right globe, predominantly pre-septal but with slight post-septal extension. The pathology revealed diffusely and deeply infiltrating tumour cells extending through the dermis, subcutis, orbicularis muscle bundles and nerve fibers; the tumour cells were noted to have a monotonous histiocytoid appearance with foamy granular eosinophilic cytoplasm. At high magnification, intracytoplasmic vacuoles and occasional intermixed signet ring cells were identified. Immunohistochemical staining revealed the tumour cells to be AE1/AE3, CK7, GCDFP-15, E-cadherin, androgen receptor stain and GATA3 positive. Final pathology report confirmed the diagnosis of primary cutaneous signet-ring cell/histiocytoid carcinoma. Further imaging failed to identify a distant primary malignancy or metastatic disease. The decision was made to attempt surgical excision of the tumor. After the bulk of the grossly apparent tumor was removed, intraoperative frozen sections were sent. Superficial biopsies of the right periorbital region were performed, which revealed extension significantly further than the gross disease. Thereafter, the patient underwent a wide orbital exenteration with reconstruction using a temporary split-thickness skin graft. Due to positive margins on final permanent sections, the patient underwent further wide resection with free muscle-skin flap reconstruction followed by adjuvant radiation treatment. Conclusion Our case represents the 33rd case of primary signet-ring cell/histiocytoid carcinoma of the eyelid in a 73-year-old male, the first documented case with GATA3 positivity and the second documented case with androgen receptor stain positivity.

An eye-opening case of periorbital oedema: a clinicodiagnostic dilemma

“…5 There is a recent report of primary cutaneous SRCC of the eyelid, emphasizing the challenges encountered in such cases. 2 In our patient, the disease was at an advanced stage at the time of presentation and the disease course was very rapid. Unfortunately, there was further delay in treatment as the patient was lost to follow-up due to the COVID-19 lockdown.…”

“…These cells in the skin may originate from either gastrointestinal, genitourinary or respiratory tract or rarely from the primary cutaneous malignancy itself. 2 Signet-ring cell carcinoma (SRCC) of the lungs, a variant of poorly differentiated adenocarcinoma, is frequently found in young, nonsmoking patients. 3 At times, it may not be possible to locate the SRCC because of low fluorodeoxyglucose uptake on PET scan, probably due to the high quantity of mucin.…”

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

“…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).…”

“…Furthermore, most relapses have been associated with incomplete tumor excision or orbital involvement [ 23 , 199 ]. Involvement of contralateral eyelid is also possible [ 202 , 203 ]. Palakkamanil et al administered adjuvant radiotherapy (50.4 Gy in 28 fractions) because of positive surgical margin 3 months after operation and reconstruction of the eyelid without evidence of recurrence after 4 years of follow-up [ 204 ].…”

Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents

“…Primary signet ring cell/histiocytoid carcinoma is a rare skin adnexal neoplasm with only fewer than 50 cases reported in the literature [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ]. While most tumors involve the eyelids, identical neoplasms have rarely been reported in the axilla [ 27 , 28 , 29 ].…”