An extragonadal yolk sac tumor presumed to be of postmeiotic germ cell origin by genetic zygosity analysis via single nucleotide polymorphism array
An extragonadal yolk sac tumor presumed to be of postmeiotic germ cell origin by genetic zygosity analysis via single nucleotide polymorphism array
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DOI：
10.1002/gcc.22817
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发表时间：
2020-03
期刊：
影响因子：
3.5
通讯作者：
Daisuke Tamura;D. Maeda;Toshiharu Sato;Tae Sugawara;H. Shirasawa;D. Shimizu;N. Sato;A. Goto;Y. Terada
中科院分区：
文献类型：
--
作者：
Daisuke Tamura;D. Maeda;Toshiharu Sato;Tae Sugawara;H. Shirasawa;D. Shimizu;N. Sato;A. Goto;Y. Terada
性腺外卵黄囊肿瘤是一种罕见的恶性生殖细胞肿瘤，通常发生在儿童时期。性腺外YST的发病机制在很大程度上仍然未知，特别是关于其起源细胞。在此，我们报告一例性腺外YST发生在子宫圆韧带。一名31岁的日本女性（第2段）接受了左侧5 cm腹股沟实性肿块的部分切除术。术中发现腹股沟管内子宫圆韧带增大。病理学检查诊断为YST伴成熟畸胎瘤（MT）。术前甲胎蛋白水平显著升高，为24 790 ng/mL。术后磁共振成像显示右侧卵巢MT和左下腹壁残留的3 cm肿块。病人接受全腹子宫切除术，双侧附件切除术，左腹股沟肿块切除术。我们采集了三个冷冻组织（YST，右侧卵巢MT和左侧正常卵巢），并进行了单核苷酸多态性（SNP）阵列。病理学评价显示左侧腹股沟区残留性腺外YST。SNP阵列显示完全纯合的YST基因型。拷贝数变化为1 p、1 q、2 p、3 p、7 p、8 p、10 q、14 q、18 p、20 q、Xp和Xq的增加和12 q、20 p和Xq的丢失。右侧卵巢MT和左侧正常卵巢MT分别为部分纯合子和杂合子。有证据表明此肿瘤可能起源于减数分裂后的生殖细胞。
An extragonadal yolk sac tumor (YST) is a rare malignant germ cell tumor that usually occurs in childhood. The pathogenesis of extragonadal YST remains largely unknown, especially with regards to its cell of origin. Herein, we report a case of extragonadal YST arising in the uterine round ligament. A 31‐year‐old Japanese woman, para 2, underwent partial resection of a left‐sided, 5‐cm, solid inguinal mass. Intraoperative findings showed enlargement of the uterine round ligament in the inguinal canal. Pathological evaluation diagnosed the mass as YST with a mature teratoma (MT) component. The preoperative α‐fetoprotein level was markedly elevated, at 24 790 ng/mL. Postoperative magnetic resonance imaging revealed a right ovarian MT and a 3‐cm mass remaining in the left lower abdominal wall. The patient underwent total abdominal hysterectomy, bilateral adnexectomy, and left inguinal mass resection. We sampled three frozen tissues (YST, right ovarian MT, and left normal ovary) and performed a single nucleotide polymorphism (SNP) array. Pathological evaluation revealed remnant extragonadal YST in the left inguinal region. The SNP array demonstrated a completely homozygous YST genotype. Copy number variations were gains of 1p, 1q, 2p, 3p, 7p, 8p, 10q, 14q, 18p, 20q, Xp, and Xq and losses of 12q, 20p, and Xq. The right ovarian MT and left normal ovary were partially homozygous and heterozygous, respectively. The evidence suggests that this neoplasm is presumed to be a postmeiotic germ cell origin.