Embryonal rhabdomyosarcoma of the uterine cervix: A report of 14 cases and a discussion of its unusual clinicopathological associations

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.
Modern Pathology (Impact Factor: 6.19). 12/2011; 25(4):602-14. DOI: 10.1038/modpathol.2011.185
Source: PubMed


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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    • "It accounts for 4 to 6% of all malignancies in this age group [2]. Because of the extreme rarity of cervical RMS, there is a paucity of literature on the subject consisting mainly of case reports [3,4] in which the treatment is not codified [5]. "
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    ABSTRACT: Introduction Embryonal rhabdomyosarcoma of the female genital tract is rare in the cervix. It has been mainly discussed in the context of individual case studies. It tends to occur in children and young women. Treatment ranges from radical surgery to conservative surgery, followed by chemotherapy. Case presentation A 16-year-old Moroccan adolescent girl presented to our center with a protruding mass from her vaginal introitus, as a polyp of 6cm. An examination revealed a polyp within her vagina, thought to be arising from her cervix and a polypectomy was performed. Microscopic findings are consistent with an embryonal rhabdomyosarcoma (botryoide type). A computed tomography of her thorax, abdomen and pelvis were performed and residual disease was found as a mass located at her cervix, which measured approximately 4.5cm in its widest dimensions, without evidence of metastatic disease. Due to the fact that she is young, after discussions in a multidisciplinary meeting, she was subsequently treated with four cycles of multi-agent chemotherapy. Two cycles of chemotherapy and radiotherapy were administered due to the lack of response, but she presented vaginal bleeding with persistence of the same mass in computed tomography. Hence a total interadnexal hysterectomy was made. A histologic examination found residual embryonal rhabdomyosarcoma (botryoide type) located in all her cervix and she is currently under chemotherapy. Conclusions The presence of a cervical polyp in an adolescent is a gynecologic oddity and must necessarily be examined histologically because it might be a rhabdomyosarcoma. This is extremely important because diagnosis at an early stage of the disease is a highly favorable prognostic factor that allows “fertility-sparing surgery” for these young patients.
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    ABSTRACT: Cervical rhabdomyosarcoma is extremely rare, and there is a paucity of literature on the subject. The purpose of this study was to describe the clinical and pathologic features of cervical rhabdomyosarcoma. We retrospectively reviewed all patients with cervical rhabdomyosarcoma who presented to our institution from 1980 to 2010. We reviewed pathologic, demographic, and clinical information. During the study period, 11 females presented with cervical rhabdomyosarcoma. The median age at presentation was 18.4 years, and 6 patients were <19 years old at diagnosis. Vaginal bleeding was the most common presenting symptom, and a vaginal mass was often a co-presenting symptom. Eight patients (73%) presented with stage IB disease, and 8 (73%) presented with the embryonal (botryoid) histologic subtype. Nine patients (82%) received multimodal therapy consisting of surgery with chemotherapy, radiation therapy, or both. All patients were without evidence of disease after completion of primary therapy, but 3 patients experienced local recurrence. At a median follow-up of 23 months, 6 patients (55%) were without evidence of disease, 1 (9%) was alive with disease, 1 (9%) had died of disease, and 3 (27%) had died of other causes. Three patients (27%) had other primary malignancies in addition to rhabdomyosarcoma-1 had a Sertoli-Leydig tumor, 1 had a Sertoli-Leydig tumor and a pinealoblastoma, and 1 had thyroid cancer and a parotid adenocarcinoma. With multimodal therapy, cervical rhabdomyosarcoma appears to be associated with a good prognosis. Favorable prognostic factors such as early stage at diagnosis and a favorable histologic subtype may contribute to the excellent observed survival.
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    ABSTRACT: Three cases of composite uterine neoplasms comprised of primitive neuroectodermal tumor (PNET) and rhabdomyosarcoma (RMS) have previously been described, including only one wherein the rhabdomyosarcomatous component was of the embryonal subtype. Whether such composite neoplasms are a variant of RMS, a variant of PNET, or a unique entity is unknown. We report the clinicopathologic, immunohistochemical, and molecular cytogenetic findings in a case of uterine embryonal RMS with coexisting PNET that was diagnosed in a 25-year-old female. The tumor broadly involved the cervix and corpus uteri and resulted in uterine inversion. The 2 distinct components each showed classic morphologic features, including cartilage in the RMS component. The unique combination of histologic, immunohistochemical and molecular findings in composite neoplasms of this type raises a question of whether they should be classified and treated as RMS, PNET, or a unique high-grade sarcoma. A variety of clinicopathologic arguments are presented that support the notion that the current neoplasm is an embryonal rhabdomyosarcoma with divergent neuroectodermal and cartilaginous differentiation.
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