Embryonal (Botryoides) Rhabdomyosarcoma of the Uterus Harboring a Primitive Neuroectodermal Tumor Component

Abstract

The association of a uterine sarcoma botryoides of the adolescence with a primitive neuroectodermal tumor is reported in a 12-year-old patient who presented with abnormal vaginal bleeding that occurred after passing per vaginam a polypoid mass. The sarcoma botryoides of the adolescence exhibited foci of cartilage and a central area of primitive neuroectodermal tumor with a trabecular, adamantiform histology and prominent angiogenesis. Primitive neuroectodermal tumor was positive for vimentin, synaptophysin, neuron-specific enolase, CD99, and SOX2 and negative for both the FLI-1 fusion protein and the rearrangement of ESWR1 gene. The neoplasm exhibited a nonaggressive behavior similar to sarcoma botryoides of the adolescence, being alive and well 3 y after its presentation. This is possibly related to its polypoid nature and the absence of invasive features at its uterine insertion level. A conservative approach without further resection and chemotherapy was indicated taking into account the patient's age.

Frequent HRAS Mutations in Malignant Ectomesenchymoma

“…However, the genetic alterations often present in neuroblastoma, such as N-MYC amplification or ALK exon 23 or 25 mutation, were not identified in this MEM case (data not shown). Rare case reports describing peripheral primitive neuroectodermal tumor in MEM without molecular support raise skepticism regarding the diagnosis 6,27,28 . In one case, the peripheral primitive neuroectodermal tumor component was positive for CD56 and S100, however, no CD99 status was investigated 27 .…”

Uterine adenosarcoma admixed with a primitive neuroectodermal tumour (PNET): a case report and review of the literature

“…The present review of the literature yielded 30 cases of uterine PNET combined with other malignancies ( Table 2). Other than adenosarcoma (two cases) [4,8], PNET have been found admixed with endometrioid endometrial carcinoma (15 cases) [4,[9][10][11][12], malignant mixed Müllerian tumour (MMMT) (two cases) [4], high grade serous endometrial carcinoma (five cases) [12], rhabdomyosarcoma (four cases) [4,9,[13][14], and endometrial stromal sarcoma (two cases) [4,10]. A Müllerian derivation for at least some of these uterine PNET has been advocated, due to the prevalence of cases associated with a Müllerian neoplasm (Table 2).…”

“…Gersell et al and Fukunaga et al cases contained mature neural elements such as ganglion cells, or glia, and expressed GFAP, which is not a feature of PNET [15,16]. Rare cases of combined rhabdomyosarcoma and PNET have been also described [4,9,13,14] ( Table 2).…”

Adjuvant chemotherapy for a primitive neuroectodermal tumor of the uterine corpus: A case report and literature review

“…Reports with incomplete information about chemotherapy were also excluded. Of a total of 178 papers identified from the search terms in the MEDLINE database, 49 cases fulfilled the mentioned criteria (Table ). We analyzed the choice of chemotherapy regimen in relation to the patients’ ages and divided patients into the following groups: adolescence (<20 years), reproductive (20–40 years), premenopausal (40–60 years) and elderly (>60 years).…”