Childhood Rhabdomyosarcoma of the Female Genital Tract: Association with Pathogenic DICER1 Variation, Clinicopathological Features, and Outcomes

Kebudi, Rejin; Dural, Özlem; Bay, Sema Büyükkapu; Görgün, Ömer; Önder, Semen; Bılgıç, Bilge; Yılmaz, İsmail; İribaş, Ayça; Arndt, Carola A.S.; Harris, Adrienne; Field, Amanda; Schultz, Kris Ann P.; Hill, D. Ashley

doi:10.1016/j.jpag.2021.01.011

Cited by 10 publications

(16 citation statements)

References 21 publications

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“…14 In addition, rhabdomyosarcoma of the female genital tract, especially the uterine corpus and rarely the uterine cervix, may be associated with a pathogenic DICER1 gene variation. 3 , 4 This is important because the detection of this mutation in a patient or relatives can provide the opportunity for surveillance of related conditions that might improve long-term outcomes and survival. However, this current case report describes a patient with a giant embryonic cervical rhabdomyosarcoma with CVST as the first symptom, leading to inversion of the uterus.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…2 Rhabdomyosarcoma of the female genital tract, especially uterine corpus and rarely uterine cervix, may be associated with a pathogenic dicer 1, ribonuclease III (DICER1) gene variation. 3,4 Cerebral venous sinus thrombosis (CVST) is a rare and fatal disease that has an incidence in adults of only 3-4 per 100 000 per year. 5 CVST is characterized by blood clotting in cerebral veins, dural sinuses or rare veins such as cortical veins.…”

Section: Introductionmentioning

confidence: 99%

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Embryonic cervical rhabdomyosarcoma complicated with uterine inversion with cerebral venous sinus thrombosis as the first symptom: a case report and literature review

Zhang

Han

et al. 2021

J Int Med Res

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The probability of rhabdomyosarcoma occurring in the cervix is less than 0.5% and may be associated with a pathogenic dicer 1, ribonuclease III ( DICER1) gene variation. Tumour-induced hypercoagulability and high levels of cancer antigen (CA) 125 are risk factors for cerebral venous sinus thrombosis (CVST). In addition, although nonpuerperal uterine inversion is very rare and is usually caused by leiomyomas from the uterus, large cervical masses can also be the cause. This case report describes a 24-year-old woman with uterine inversion caused by an embryonic cervical rhabdomyosarcoma that presented with CVST as her first symptom. The patient underwent laparoscopic total uterus and bilateral salpingectomy, during which the uterus was found to be completely inverted. Postoperative pathology confirmed embryonic cervical rhabdomyosarcoma. The patient quickly developed lung and para-aortic lymph node metastases. Two months later, the patient died of complications. When coagulation indices in patients with tumours are abnormal, especially when the levels of D-dimer and CA125 increase, it is recommended that anticoagulant therapy is administered in a timely manner to prevent the occurrence of CVST. Furthermore, for large cervical tumours, physicians should also be alert to the occurrence of uterine inversion.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Embryonic cervical rhabdomyosarcoma complicated with uterine inversion with cerebral venous sinus thrombosis as the first symptom: a case report and literature review

Zhang

Han

et al. 2021

J Int Med Res

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“…Among the 58 tumors where borders could be evaluated (either by hysterectomy or limited resection), 26 were confined to a polyp, 29 invaded the inner half (19) or outer half (10) of the cervical wall and 3 extended to paracervical soft tissues. In addition, 2 had ovarian metastasis by imaging (no histologic confirmation), and 1 had metastasized to a single pelvic lymph node (pathologically confirmed).…”

Section: Pathologic Featuresmentioning

confidence: 99%

“…Eight had been treated with total hysterectomy (TAH) (with chemotherapy = 3, no chemotherapy = 4, chemotherapy unknown = 1), 2 with polypectomy only (no chemotherapy), while treatment was not known in the remaining patient. Most common sites of recurrence included abdomen/pelvis (10), lung (3), and retroperitoneum (2). Clinicopathologic features of nonrecurrent and recurrent tumors are summarized in Tables 1 and 2.…”

Section: Follow-upmentioning

confidence: 99%

Embryonal Rhabdomyosarcoma of the Uterine Cervix

Devins

Young

Ghioni

et al. 2022

American Journal of Surgical Pathology

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Embryonal rhabdomyosarcoma of the uterine cervix (cERMS) is rare and frequently associated with DICER1 mutations. We report 94 tumors that arose in patients aged 7 to 59 (median = 23) years and presented with vaginal bleeding (52), protruding vaginal mass (17), cervical polyp (8), or expelled tumor fragments per vagina (5). Nine had DICER1 syndrome, 8 of whom had other syndromic manifestations including ovarian Sertoli-Leydig cell tumor ( 7), multinodular goiter (3), pleuropulmonary blastoma (2), pineoblastoma (1), and osteosarcoma (1). Syndromic patients were younger than nonsyndromic patients (16 vs. 24 y). Tumor size ranged from 2 to 24 (median = 4.5) cm. Ninety-two tumors were polypoid, most being grapelike (77 of 92). They were characterized by aggregates of primitive cells, almost always exhibiting a cambium layer, within a variably myxoedematous stroma and were hypocellular (63), moderately cellular (22), or hypercellular (9). Entrapped glands, typically scant, were present in 84 tumors. Primitive hyperchromatic ovoid to spindled cells with minimal cytoplasm predominated but differentiated rhabdomyoblasts with abundant eosinophilic cytoplasm (having cross-striations in 30) were seen in 83 tumors; they were often sparse but predominated in three. Nine tumors showed areas of intersecting fascicles and 4 zones with densely cellular (solid) growth. Cartilage was present in 38. Anaplasia was seen in 15 tumors, as was necrosis. Mitotic activity ranged from 1 to 58/10 high-power fields (median = 8). The varied microscopic features resulted in a spectrum of differential diagnostic considerations, mainly typical and cellular forms of fibroepithelial polyps, Mullerian adenosarcoma, and other sarcomas. Follow-up was available for 79 patients ranging from 6 to 492 (median = 90) months. Treatment information was available in 62 and included polypectomy in 6 patients (2 also received chemotherapy), limited resection in 26 (14 also received chemotherapy), hysterectomy in 29 (15 with adjuvant chemotherapy), and biopsies only in 1 (with chemotherapy). Staging was possible in 56 tumors; according to the "uterine sarcoma" system (tumor size and extent) they were: stage I (10/56; could not be further subclassified as size not available), IA (22/56), IB (18/56), IIA (2/ 56), IIB 3/56), IIIC (1/56). According to the "adenosarcoma" system (depth of invasion and extent) they were: stage IA (26/56), IB (14/56), IC (10/56), IIA (2/56), IIB (3/56), IIIC (1/56). Eight patients had local recurrence following incomplete excision (10%). Eleven of 79 patients had extrauterine recurrences (14%) and 9 died of disease (11%). Older age was associated with extrauterine recurrence (median 44 vs. 22; P = 0.002) and decreased disease-specific survival (median 44 vs. 22; P = 0.02). For patients with tumors initially confined to the cervix, the adenosarcoma staging system was superior to the uterine sarcoma staging system for predicting survival (P = 0.02). Three patients with DIC-ER1 syndrome who underwent fertility-preserving surgery developed a...

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DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features

Lethongsavarn,

Vieille,

Kikweta Makhama

et al. 2023

Genes Chromosomes & Cancer

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DICER1‐mutated rhabdomyosarcoma is a rare, emerging entity with a predilection for the gynecologic and genitourinary tracts. We report here a case of DICER1‐mutated rhabdomyosarcoma of the ovary in a 14 years old girl which displayed interspersed mature teratoid glands, neuroectodermal rosettes and immature blastematous‐like tubes. Morphologically the sarcomatous component predominated, corresponding to a high grade spindle cell rhabdomyosarcoma with botryoid features. Islets of cartilage were present. The sarcomatous proliferation encased the teratoid glands, forming cambium layer‐like arrangements. The sarcoma cells were Myogenin and MYOD1 positive, the neuroectodermal rosettes expressed SALL4 along with cytokeratins and EMA and were negative for Inhibin; immature blastematous‐like tubes were negative for SALL4 and Inhibin. Whole RNA‐ and targeted DNA‐sequencing revealed two DICER1 mutations in exon 26: c.5113G>A: p.(Glu1705Lys) and exon 12: c.1642C>T: p.(Gln548X). The sarcomatous component harbored a complex genetic profile while the teratoid component was diploid, none of the above displayed abnormality of 12p. DICER1‐mutated sarcomas display pathological features similar to embryonal rhabdomyosarcomas, botryoid type. They also display heterogeneous features combining cartilage foci, teratoid mature glands, immature blastematous‐like tubes and/or neuroectodermal components. Molecular testing remains necessary to confirm the diagnosis. Further studies need to clarify the nosology of DICER1‐mutated sarcomas and devise specific therapeutic strategies.

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Childhood Rhabdomyosarcoma of the Female Genital Tract: Association with Pathogenic DICER1 Variation, Clinicopathological Features, and Outcomes

Cited by 10 publications

References 21 publications

Embryonic cervical rhabdomyosarcoma complicated with uterine inversion with cerebral venous sinus thrombosis as the first symptom: a case report and literature review

Embryonic cervical rhabdomyosarcoma complicated with uterine inversion with cerebral venous sinus thrombosis as the first symptom: a case report and literature review

Embryonal Rhabdomyosarcoma of the Uterine Cervix

DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features

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