Microcystic stromal tumour of the ovary: frequent mutations of β‐catenin (<i><scp>CTNNB</scp>1</i>) in six cases

Bi, Rui; Bai, Qian; Yang, Fei; Wu, Li Jing; Cheng, Yu; Shen, Xu; Cai, Xu; Zhou, Xiao Yan; Wen, Yan

doi:10.1111/his.12722

Cited by 34 publications

(36 citation statements)

References 21 publications

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“…Nuclear staining was present in all but one of the 30 MCSTs, which showed cytoplasmic-only staining but did contain a CTNNB1 mutation. 61 Overall, 76% (22/29) of MCSTs with nuclear pattern bcatenin staining contained a CTNNB1 mutation. Comparison of the clinicopathological features of CTNNB1mutated MCST with those of CTNNB1 without mutation has not been described in these studies.…”

Section: T N N B 1 a N D M C S Tmentioning

confidence: 94%

“…A somatic mutation of CTNNB1 exon 3 has been reported in 73% (22/30) of MCSTs . The mutation was missense in all but one case, which was a deletion mutation .…”

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 95%

“…Immunohistochemical expression of β‐catenin did not perfectly correlate with mutation status. Nuclear staining was present in all but one of the 30 MCSTs, which showed cytoplasmic‐only staining but did contain a CTNNB1 mutation . Overall, 76% (22/29) of MCSTs with nuclear pattern β‐catenin staining contained a CTNNB1 mutation.…”

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 96%

“…Sanger sequencing or targeted NGS of exon 3 (Figure C) is the mainstay of CTNNB1 mutation testing. In the specific setting of MCST, immunohistochemical testing for nuclear expression of β‐catenin appears to be a reasonable surrogate for mutation testing; the presence of nuclear staining in MCSTs is associated with CTNNB1 mutation in approximately three‐quarters of cases, and nearly all MCSTs with CTNNB1 mutation show β‐catenin nuclear staining …”

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 99%

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Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

2019

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Within the last decade, molecular advances have provided insights into the genetics of several ovarian sex cord–stromal tumours that have otherwise been enigmatic. Chief among these advances are the identification of FOXL2, DICER1 and CTNNB1 mutations in adult granulosa cell tumours, Sertoli–Leydig cell tumours (SLCTs), and microcystic stromal tumours (MCSTs), respectively. As access to molecular diagnostic laboratories continues to become more widely available, the potential roles for tumour mutation testing in the pathological diagnosis of these tumours merit discussion. Furthermore, links to inherited cancer susceptibility syndromes may exist for some women with SLCT (DICER1 syndrome) and MCST [familial adenomatous polyposis (FAP)]. This review will address practical issues in deciding when and how to apply mutation testing in the diagnosis of these three sex cord–stromal tumours. The pathologist's role in recommending referral for formal risk assessment for DICER1 syndrome and FAP will also be discussed.

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Section: T N N B 1 a N D M C S Tmentioning

confidence: 94%

“…A somatic mutation of CTNNB1 exon 3 has been reported in 73% (22/30) of MCSTs . The mutation was missense in all but one case, which was a deletion mutation .…”

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 95%

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 96%

Section: Mcst and Ctnnb1 And Apcmentioning

confidence: 99%

See 2 more Smart Citations

Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

2019

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“…For example, in a recent study of 10 microcystic stromal tumours, we identified CTNNB1 and APC mutations in eight and two cases, respectively . Mutations in CTNNB1 and APC genes are mutually exclusive in microcystic stromal tumour and they result directly in nuclear immunoreactivity with beta‐catenin and cyclin D1 through activation of the Wnt signalling pathway . Herein, we report four ovarian neoplasms with a different morphology but an identical immunophenotype and molecular events to microcystic stromal tumour.…”

Section: Introductionmentioning

confidence: 94%

Expanding the morphological spectrum of ovarian microcystic stromal tumour

et al. 2018

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Aims To expand the morphological spectrum of ovarian microcystic stromal tumour, a rare neoplasm considered to have a relatively constant morphology with microcysts, solid cellular regions and hyalinised fibrous stroma. Methods and results We report four ovarian neoplasms in patients aged 45, 56, 61 and 71 years with the characteristic immunophenotype of microcystic stromal tumour (diffuse nuclear positivity with beta‐catenin, cyclin D1 and WT1; diffuse cytoplasmic positivity with CD10; negative inhibin, calretinin, oestrogen receptor and progesterone receptor). The tumours had variant morphology (diffuse, nested and corded arrangements in three cases, including one with spindle cell elements; nested, corded and tubular in the other). A CTNNB1 point mutation in exon 3 (c.98C>G,p.S33C; c.100G>A,p.G34R; c.97T>G,p.S33A) was present in the three cases with material available for testing. Conclusions We feel that the cases we report are related to microcystic stromal tumour but with variant morphology; as such, the morphological spectrum of ovarian microcystic stromal tumour is broader than hitherto reported.

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Sex Cord-Stromal Tumors of the Ovaries and Benign Mimickers

Saglam

2023

Challenging Cases in Gynecologic Surgical Pathology

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Microcystic stromal tumour of the ovary: frequent mutations of β‐catenin (CTNNB1) in six cases

Abstract: MCST shows a unique morphology with characteristic immunophenotype. β-catenin expression in the nucleus and β-catenin mutations were identified in the majority of cases, which suggests that the Wnt/β-catenin pathway may play a crucial role in the tumorigenesis of MCST.

Cited by 34 publications

References 21 publications

Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics

Expanding the morphological spectrum of ovarian microcystic stromal tumour

Sex Cord-Stromal Tumors of the Ovaries and Benign Mimickers

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