Vulvar Adenocarcinoma of Intestinal Type: A Case Report of an Uncommon Entity

Abstract

Vulvar cancer is rare and accounts for only 5% of all gynecologic cancers. Squamous cell carcinoma is the most common and makes up 90% of the cases. Vulvar adenocarcinoma usually arises in Bartholin and other vulvar glands. Primary vulvar intestinal-type adenocarcinoma is an extremely rare disease with an unclear prognosis and treatment. Its origin is still unknown, the most accepted theory suggests cloacal remnants as the source of origin. Only a few cases have been reported in the literature. We present a case of a 66-yr-old female who presented with vulvar pruritus and local discomfort, showing a 2 cm tumor located in the left labium minor in the region of vulvar fourchette. Wide vulvar excision and bilateral lymph nodes dissection were performed. Other concomitant lesions and distant extension of tumor were ruled out by positron emission tomography. Pathologic study revealed a colonic-type adenocarcinoma with typical villoglandular architecture with an irregular glandular structure composed of atypical columnar epithelium. The lesion had direct contact with epidermal surface and mainly was external without involving the dermis. Immunohistochemical analysis revealed positive staining for cytokeratin 20 and CDX2. p16 showed an abnormal diffuse and strong immunoexpression. The presence of a low-risk human papillomavirus was detected by polymerase chain reaction, therefore, the expression of p16 cannot be explained in this case by the presence of human papillomavirus. Additional studies are needed in additional cases to clarify the role of human papillomavirus in this kind of tumor.

Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report

“…Five other cases had IHC ndings for p16, four cases of which were positive (Table 2). In another report, reverse transcription polymerase chain reaction for HPV in p16-positive adenocarcinoma of intestinal-type of the vulva did not detect HPV type 16, but only lowrisk HPV [29]. HPV was negative in the present case.…”

“Intestinal-Type” Vulvar Adenocarcinoma: A Review of the MITO Rare Tumors Group

“…However, none of the above-mentioned research reported the connection of HPV with specific vulvar cancer subtype VAIt. Only recently, Moscoso et al [ 13 ] reported a case of VAIt, treated with wide resection, in which the presence of a low-risk HPV was detected. One of the most interesting immunohistochemical results of this case was also the evidence of p16 immuno-expression that cannot be explained with a low-risk HPV.…”

“…Consequently, nuclear CDX2 immunoreactivity in VAIt could represent a proof of cloacal origin. Moreover, in VAIt, the immunoreactivity for cytokeratin 7 and p16, which are characteristic for the female genital tract neoplasms was also described [ 8 , 13 , 22 , 29 ]. Furthermore, the literature also described in VAIt, the presence of KRAS exon 2 mutation.…”

“…Due to the limited reported cases, the prognostic mean of KRAS mutations in is as unknown yet [ 9 ]. The role of lymphovascular invasion (LVSI) is not known as it has not been evaluated in most cases; in the few cases in which LVSI has been reported [ 7 , 11 , 13 , 29 , 37 ], it was present just in one patient [ 29 ] (this probably due to the fact that the carcinomatous tissue originates from embryonic residues and not from organ epithelium with a lymphatic vascularization). Only 6 out of 29 cases [ 6 , 8 , 10 , 15 , 38 , 40 ] presented with lymph node metastases; patients with metastatic lymph nodes had primary lesions equal to or greater than 2 cm, suggesting a prognostic role of tumor size.…”

“…In order to preserve the functionality of adjacent organs, for neoplasia that arises on the lateral or posterior of the vulva, radical local excision of the invasive lesion, with urethra and clitoris preservation, could be feasible [ 22 , 38 ]. Although some patients with large tumors have been recently treated with LE, short follow-ups have been reported within 12 months [ 7 , 9 , 13 , 42 , 43 ], in case of size tumors > 2 cm and according to VAIt stage, a more radical surgery could be required with a unilateral emivulvectomy with lymph node dissection or a vulvectomy with unilateral or bilateral inguinal–femoral lymphadenectomy [ 7 , 8 , 40 , 44 ]. In our review, lymph node staging with mono or bilateral inguinal lymphadenectomy was performed in 14 patients (less than half of the cases reported), usually in cases of large tumors or suspected enlarged lymph nodes on preoperative imaging [ 6 , 8 , 9 , 18 , 26 , 31 , 41 ].…”