Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations.
Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations.
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DOI：
10.1038/modpathol.2011.185
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发表时间：
2012-04
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影响因子：
--
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中科院分区：
文献类型：
--
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子宫颈胚胎性横纹肌肉瘤是一种罕见的表现，最常见的软组织肉瘤在最初的几十年的生活。与其他解剖部位的胚胎性横纹肌肉瘤不同，其中70-80%的病例在9岁之前出现，我们的14例宫颈病例的平均年龄为12.4岁（中位数为13岁），诊断时年龄范围为9个月至32岁。14例中，12例表现为宫颈口息肉，2例宫颈浸润性肿块，无葡萄状息肉。息肉大小为1.5-5 cm，组织病理学表现为胚胎性横纹肌肉瘤的葡萄状肉瘤变体，在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浓缩。6例（43%）间质中存在良性软骨结节。最年轻的患者，9个月大的胚胎性横纹肌肉瘤之一，也有一个独特的显微镜下的原始间质中的不成熟的肾小管配置文件的重点，这些小管表达上皮和神经内分泌标志物。两名患者患有胸膜肺母细胞瘤，一名在子宫颈胚胎性横纹肌肉瘤9年前被诊断，另一名同时被确认。这个9岁的孩子有一个DICER 1种系突变。一名患者表现为多毛症，并有支持-间质细胞瘤，偶然发现颈部胚胎性横纹肌肉瘤，甲状腺结节性增生。虽然在后一个患者中没有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的表现（OMIM 601200）。子宫颈胚胎性横纹肌肉瘤必须与其他罕见的实体，包括腺肉瘤，恶性混合苗勒管肿瘤和低度恶性间质肉瘤，因为前者有更好的预后，我们的14例患者中有12例在保守手术和化疗后保持无病。我们的研究表明，颈部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。
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.
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影响因子：
3.4
作者：
Koukourakis, Georgios V.;Kouloulias, Vassilios;Gouliamos, Athanasios
通讯作者：
Gouliamos, Athanasios
影响因子：
7.5
作者：
de Jong, Renske A.;Nijman, Hans W.;Hollema, Harry
通讯作者：
Hollema, Harry
影响因子：
4.7
作者：
Golbang, P;Khan, A;Planner, R
通讯作者：
Planner, R
DOI：
10.1097/01.mph.0000161762.53175.e4
发表时间：
2005-04-01
影响因子：
1.2
作者：
Herzog, CE
通讯作者：
Herzog, CE
影响因子：
4.7
作者：
Bernal, KL;Fahmy, L;Baker, J
通讯作者：
Baker, J