Malignant struma ovarii presenting with follicular carcinoma: A case report with molecular analysis

Tsukada, Takafumi; Yoshida, Hiroshi; Ishikawa, Masatoshi; Asami, Yuka; Shiraishi, Kouya; Kato, Tomoyasu

doi:10.1016/j.gore.2019.100498

Cited by 11 publications

(12 citation statements)

References 11 publications

(14 reference statements)

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“…In one study, the authors investigated the tumor samples of malignant struma ovarii with follicular carcinoma for 50 cancer-related genes, including RAS, BRAF, p53, and PPARgPAX8 gene fusion by targeted DNA sequencing and ﬂuorescence in situ hybridization, respectively. The main driver gene alterations in follicular thyroid carcinoma were not found in malignant struma ovari, which suggests the possibility of a different mechanism of tumorigenesis for malignant struma ovarii with follicular carcinoma 12 . The histological differential diagnosis of struma ovarii includes metastatic thyroid carcinoma to the ovary, stromal carcinoid, sex cord stromal tumor and melanoma.…”

Section: Discussionmentioning

confidence: 85%

“…Recently, some authors described a new entity, highly differentiated follicular carcinoma of ovarian origin, which is characterized by extra-ovarian dissemination of thyroid elements with an innocuous appearance that histologically resembles non-neoplastic thyroid tissue 11 . To the best of our knowledge, approximately 50 cases of malignant struma ovarii with follicular-type carcinoma have been reported in the English language literature 12 . Because of its rarity, there has been disagreement regarding the diagnosis and the treatment of malignant struma ovarii.…”

Section: Discussionmentioning

confidence: 99%

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Follicular carcinoma arising from struma ovarii. A case report

Limaïem

Bouraoui

2020

Pathologica

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Summary Struma ovarii is a monodermal variant of ovarian teratoma. Thyroid-type carcinoma arising in struma ovarii is rare. The most common type is papillary carcinoma, followed by typical follicular carcinoma. A 75-year-old hypertensive patient consulted for the sensation of a painless pelvic mass that has been progressing for six months. The abdominopelvic ultrasound showed a right lateralized abdominopelvic mass measuring 14x13x8 cm with a solid and cystic double component. The patient underwent a unilateral right adnexectomy. Grossly, the tumor was encapsulated and lobulated. On cut sections, it was solid brown whitish in color and gelatinous. On histological examination, it was formed of follicular structures of variable size filled with a dense colloid. From this goiter a malignant tumor proliferation arose, arranged in sheets, trabeculae and follicular structures, and the tumor cells were cubic or polyhedral moderately atypical with few mitotic figures. There were no papillary-like nuclear features. There was focal capsular and vascular invasion. Immunohistochemical study showed positive immunostaining of tumor cells with TTF1. Postoperative course was uneventful. The exact prognosis of thyroid-type carcinoma arising in struma ovarii is still unclear because of its rarity, inadequate follow-up, and the absence of consensus in diagnosis and treatment.

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Follicular carcinoma arising from struma ovarii. A case report

Limaïem

Bouraoui

2020

Pathologica

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“…However, the follicular carcinomas of malignant struma ovarii are rarer than papillary carcinomas; thus, there are only a few reports of the genetic analyses of these tumors. No major oncogenic gene variants, including KRAS, BRAF, P53, or PAX8/ PPAR γ gene fusions, have been found in the genetic analysis of follicular carcinoma originating from struma ovarii [ 36 ]. These cases suggest that the mechanism of carcinogenesis differs between the primary follicular thyroid carcinoma and follicular carcinoma originating from malignant struma ovarii [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Identifying the Carcinogenic Mechanism of Malignant Struma Ovarii Using Whole-Exome Sequencing and DNA Methylation Analysis

Yamashita

Nakayama

Kanno

et al. 2023

CIMB

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Background: Since malignant struma ovarii is a very rare disease, its carcinogenic mechanism has not been elucidated. Here, we sought to identify the genetic lesions that may have led to the carcinogenesis of a rare case of malignant struma ovarii (follicular carcinoma) with peritoneal dissemination. Methods: DNA was extracted from the paraffin-embedded sections of normal uterine tissues and malignant struma ovarii for genetic analysis. Whole-exome sequencing and DNA methylation analysis were then performed. Results: Germline variants of RECQL4, CNTNAP2, and PRDM2, which are tumor-suppressor genes, were detected by whole-exome sequencing. Somatic uniparental disomy (UPD) was also observed in these three genes. Additionally, the methylation of FRMD6-AS2, SESN3, CYTL1, MIR4429, HIF3A, and ATP1B2, which are associated with tumor growth suppression, was detected by DNA methylation analysis. Conclusions: Somatic UPD and DNA methylation in tumor suppressor genes may be associated with the pathogenesis of malignant struma ovarii. To our knowledge, this is the first report of whole-exome sequencing and DNA methylation analysis in malignant struma ovarii. Genetic and DNA methylation analysis may help elucidate the mechanism of carcinogenesis in rare diseases and guide treatment decisions.

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“…Currently, the molecular characteristic of HDFCO is elusive for lack of common gene abnormalities seen in typical cervical thyroid cancer and struma-derived papillary carcinoma, such as BRAF, RAS, p53, and PPARg-PAX8 gene fusion [ 8 , 10 , 13 , 14 ]. However, the whole-exome sequencing of our patient showed the germline FGFR4 Gly388Arg polymorphism in exon 9, which may provide new insights into the mechanism of HDFCO.…”

Section: Discussionmentioning

confidence: 99%

A rare case of highly differentiated follicular carcinoma in ovary with FGFR4 Gly388Arg polymorphism: a case report and literature review

et al. 2022

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Background Highly differentiated follicular carcinoma (HDFCO) is a rare form of struma-derived thyroid-type carcinoma in ovary, defined as ovarian struma spreading beyond ovary but consisting of benign thyroid tissues. No more than 30 cases of HDFCO have been reported since it was first recognized in 2008. The clinicopathologic and molecular features of HDFCO remain unclear up till now. Case presentation A 38-year-old, para 1 gravida 5 woman has a long history of recurrent right ovarian cysts. Histological evaluation showed the tumor progressed from ovarian mature cystic teratoma (OMCT) to highly differentiated follicular carcinoma (HDFCO) during three relapses. Whole-exome sequencing revealed the germline FGFR4 Gly388Arg polymorphism. Repeated operations were performed to remove lesions for the first two relapses. On the third recurrence, the patient received radical surgery with subsequent thyroidectomy and radioactive iodine ablation. No evidence of disease was observed by February 2022 (8 months). Conclusions The germline FGFR4 Gly388Arg polymorphism may accelerate the malignant transformation of HDFCO, probably by working as a second hit in the developing spectrum.

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Malignant struma ovarii presenting with follicular carcinoma: A case report with molecular analysis

Cited by 11 publications

References 11 publications

Follicular carcinoma arising from struma ovarii. A case report

Follicular carcinoma arising from struma ovarii. A case report

Identifying the Carcinogenic Mechanism of Malignant Struma Ovarii Using Whole-Exome Sequencing and DNA Methylation Analysis

A rare case of highly differentiated follicular carcinoma in ovary with FGFR4 Gly388Arg polymorphism: a case report and literature review

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