Vulvar yolk sac tumor diagnosed during pregnancy, with recurrence during subsequent second pregnancy

Abstract

HighlightsVulvar yolk sac tumor (YST) is an exceptionally rare and aggressive extra-gonadal germ cell tumor, previously only described in 15 cases in the literature.We present a unique case of vulvar YST diagnosed during pregnancy, treated with systemic chemotherapy, who subsequently recurred during a second pregnancy.Despite salvage chemotherapy and autologous stem cell transplantation at recurrence, our patient succumbed to her disease, 31 months post diagnosis.

A Subset of SMARCB1 (INI‐1)‐deficient vulvar neoplasms express germ cell markers

“…YST of the vulva is exceedingly rare, with only single case reports in the literature 17–28 . Unlike vaginal YST, which typically occurs in infants (median age 10 months) and demonstrates a good response to chemotherapy, 40 reported cases of vulvar YST occurred in middle‐aged women, were less responsive to chemotherapy, and were associated with a poor clinical outcome.…”

“…[14][15][16] Only single case reports of YST of the vulva have been reported in the literature. [17][18][19][20][21][22][23][24][25][26][27][28] These vulvar tumours typically presented in middle-aged women and were associated with poor response to chemotherapy and with local recurrences and metastasis. 17,18,[20][21][22][23][24][25][26] YST-like morphology is also seen in a variety of somatic tumours of the gynaecologic tract, usually in association with epithelial neoplasms.…”

“…[17][18][19][20][21][22][23][24][25][26][27][28] These vulvar tumours typically presented in middle-aged women and were associated with poor response to chemotherapy and with local recurrences and metastasis. 17,18,[20][21][22][23][24][25][26] YST-like morphology is also seen in a variety of somatic tumours of the gynaecologic tract, usually in association with epithelial neoplasms. 29 YST-like morphology has also been reported in various tumours with biallelic SMARCB1 inactivation.…”

“…Extragonadal YST is less common and is primarily seen in the retroperitoneum, brain, mediastinum, and pelvis; due to its rarity, immunohistochemistry is almost always required to establish the diagnosis 14–16 . Only single case reports of YST of the vulva have been reported in the literature 17–28 . These vulvar tumours typically presented in middle‐aged women and were associated with poor response to chemotherapy and with local recurrences and metastasis 17,18,20–26 …”

“…Only single case reports of YST of the vulva have been reported in the literature 17–28 . These vulvar tumours typically presented in middle‐aged women and were associated with poor response to chemotherapy and with local recurrences and metastasis 17,18,20–26 …”