Lauren V Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, Barnes-Jewish and St Louis Children's Hospitals, Washington University Medical Center, St Louis, MO 63110, USA.
Mod Pathol. 2012 Apr;25(4):602-14. doi: 10.1038/modpathol.2011.185. Epub 2011 Dec 9.
Embryonal rhabdomyosarcoma of the uterine cervix is an uncommon presentation of the most common soft-tissue sarcoma in the first decades of life. Unlike embryonal rhabdomyosarcoma in other anatomic sites, in which 70-80% of cases present before 9 years of age, the average age in our series of 14 cervical cases was 12.4 years (median, 13 years), with an age range of 9 months to 32 years at diagnosis. Of the 14 cases, 12 presented as a polyp at the cervical os; two patients had an infiltrative mass in the cervix without a botryoid polyp. The polyps measured 1.5-5 cm and all had the histopathological pattern of the sarcoma botryoides variant of embryonal rhabdomyosarcoma, with condensations of primitive and differentiated rhabdomyoblasts beneath the surface epithelium and around endocervical glands. Nodules of benign-appearing cartilage were present in the stroma of six cases (43%). One of the embyronal rhabdomyosarcomas from the youngest patient, 9 months old, also had a distinctive microscopic focus of immature tubular profiles in a primitive stroma; these tubules expressed epithelial and neuroendocrine markers. Two patients had a pleuropulmonary blastoma, one diagnosed 9 years before the embryonal rhabdomyosarcoma of the cervix and the other recognized synchronously. This latter 9-year old had a DICER1 germline mutation. One patient presented with hirsutism and had a Sertoli-Leydig cell tumor, an incidentally detected cervical embryonal rhabdomyosarcoma, and nodular hyperplasia of the thyroid. Although a pleuropulmonary blastoma was not documented in the latter patient, ovarian sex-cord stromal tumors and nodular hyperplasia of the thyroid are manifestations of the pleuropulmonary blastoma family tumor and dysplasia syndrome (OMIM 601200). Embryonal rhabdomyosarcoma of the cervix must be distinguished from other rare entities, including adenosarcoma, malignant mixed Mullerian tumor and low-grade stromal sarcoma, as the former has a better prognosis; 12 of our 14 patients remain disease-free following conservative surgery and chemotherapy. Our study suggests that cervical embryonal rhabdomyosarcoma may be another pathological manifestation in the spectrum of extrapulmonary pathology in the setting of pleuropulmonary blastoma.
宫颈胚胎性横纹肌肉瘤是儿童期最常见的软组织肉瘤中一种少见的表现形式。与其他解剖部位的胚胎性横纹肌肉瘤不同，70%-80%的病例在 9 岁之前发病，而我们的 14 例宫颈病例的平均年龄为 12.4 岁（中位数为 13 岁），诊断时的年龄范围为 9 个月至 32 岁。在 14 例病例中，12 例以宫颈口息肉形式出现；2 例患者的宫颈内有浸润性肿块，无葡萄状息肉。息肉大小为 1.5-5cm，均具有胚胎性横纹肌肉瘤的葡萄状肉瘤变体的组织病理学模式，表面上皮下和宫颈内腺体周围有原始和分化的横纹肌母细胞的凝聚。6 例（43%）肿瘤基质中存在良性外观的软骨结节。1 例来自最年轻的 9 个月大患儿的胚胎性横纹肌肉瘤，在原始基质中也有一个独特的微小不成熟管状形态学特征；这些小管表达上皮和神经内分泌标志物。2 例患者患有胸膜肺母细胞瘤，1 例在宫颈胚胎性横纹肌肉瘤 9 年前诊断，另 1 例同步诊断。后者为 9 岁患儿，存在 DICER1 种系突变。1 例患者表现为多毛症，患有 Sertoli-Leydig 细胞瘤，偶然发现的宫颈胚胎性横纹肌肉瘤，以及甲状腺结节性增生。尽管在后 1 例患者中未记录到胸膜肺母细胞瘤，但卵巢性索-间质肿瘤和甲状腺结节性增生是胸膜肺母细胞瘤家族肿瘤和发育不良综合征（OMIM 601200）的表现。宫颈胚胎性横纹肌肉瘤必须与其他罕见实体瘤区分，包括腺肉瘤、恶性混合性米勒管肿瘤和低度间质肉瘤，因为前者预后较好；我们的 14 例患者中有 12 例在接受保守手术和化疗后无疾病生存。我们的研究表明，宫颈胚胎性横纹肌肉瘤可能是胸膜肺母细胞瘤背景下肺外病理学谱中的另一种病理表现。
