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.