Overexpression of the BCL2 gene in a Sertoli–Leydig cell tumor of the ovary: a pathologic and cytogenetic study

Truss, Lisa; Dobin, Sheila M.; Rao, Arundati; Donner, Ludvik R.

doi:10.1016/s0165-4608(03)00276-0

Cited by 13 publications

(6 citation statements)

References 19 publications

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“…The role of p53 expression, as a potential additional anti-apoptotic mechanism in ovarian SCST, needs to be further investigated and clarified. To our knowledge, previous to this study, bcl-2 overexpression has been detected in only one case of Sertoli-Leydig cell tumours [18].…”

Section: Discussionmentioning

confidence: 48%

Investigating differentiation mechanisms of the constituent cells of sex cord-stromal tumours of the ovary

et al. 2008

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SOX-9, an essential factor for male sexual development, can be induced by prostaglandin D2 in a Sry-independent mechanism. Recent data suggest that the hedgehog pathway is involved in the differentiation of normal Sertoli and Leydig cells. The purpose of our study was to investigate the mechanisms involved in the differentiation of ovarian sex cord-stromal tumour (SCST) cells. Two Sertoli-Leydig cell tumours and two granulosa cell tumours with a minor Sertoli element were studied using immunohistochemistry on paraffin-embedded tissue sections. Sertoli cells expressed anti-Mullerian hormone (AMH), SOX-9, prostaglandin D synthase (Pgds) and bcl-2 (in four of four cases); sonic hedgehog (Shh) and p53 (in three of four cases) and androgen receptors (AR; in one of four cases). Ki-67 index ranged from 10% to 50%. Leydig cells expressed Shh and AR (two of two cases), while they showed no expression of p53, bcl-2 and 0% Ki-67 index. Granulosa cells expressed AMH, Pgds, Shh, estrogen receptors, progesterone receptors, AR and bcl-2 (in two of two cases) and p53 (in one of two cases). Ki-67 index was 10% and 40%, respectively. Further investigation is required to clarify the role of the molecules outlined above in the histogenesis of ovarian SCST, as Pgds-mediated SOX-9 upregulation could provide a reasonable explanation for the presence of testicular differentiation in ovarian SCST.

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Section: Discussionmentioning

confidence: 48%

Investigating differentiation mechanisms of the constituent cells of sex cord-stromal tumours of the ovary

et al. 2008

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“…There is little information to explain the primary reason for the initiation of this type of ovarian tumor 11, 12. The coexistence of SLCT and fMNG, in this case, might suggest the involvement of a new endocrine complex disease genetically determined, as previously proposed by Gheorghisan‐Galateanu et al 13.…”

Section: Discussionsupporting

confidence: 50%

Virilizing ovarian tumor in a 14‐year‐old female with a prior familial multinodular goiter

Niedziela

2008

Pediatric Blood & Cancer

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A 14-year-old female presented with intermittent abdominal pain, deepening of voice and amenorrhoea for 4 months. Twelve months earlier she had had a thyroidectomy because of familial multinodular goiter and had, subsequently, received substitution with L-thyroxine. At the time of admission, a high serum testosterone level was detected. The dexamethasone suppression test confirmed the hormonal autonomy and magnetic resonance imaging (MRI) visualized a solid tumor within the left ovary. The pathological diagnosis after left salpingo-oophorectomy was Sertoli-Leydig cell tumor. The patient has remained disease-free for 6 years.

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“…Case 5 comprises poorly differentiated SLCTs with synchronous bilateral pulmonary metastatic tumors by thoracoscopic resection biopsy that revealed rhabdomyosarcomatous differentiation 1 month after primary resection of the ovarian tumor. Truss et al 33 reported moderately differentiated SLCTs with retiform pattern and additional cytogenetic abnormalities, including gain of whole chromosome 6, but the patient was lost to follow-up and the outcome could not be determined. As a result, the significance of the gain of whole chromosome 6 to SLCTs is not yet clear, and further study is needed to explore whether it could relate to rhabdomyosarcomatous differentiation and malignant behavior in SLCTs.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Sertoli-Leydig Cell Tumors of the Ovary

Yang,

Chour,

Salazar

et al. 2023

American Journal of Surgical Pathology

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Sertoli-Leydig cell tumors (SLCTs) are currently classified into 3 molecular subtypes: DICER1-mutant (younger patient age), FOXL2-mutant, and DICER1/FOXL2-wildtype. However, it is not clear whether all pediatric SLCTs are DICER1-mutant molecular subtypes and whether other molecular genetic aberrations besides DICER1 are involved in the pathogenesis and prognosis of these tumors. We studied comprehensive data for 8 cases of pediatric SLCTs, including clinicopathological features, pan-cancer–targeted next-generation sequencing/OncoKids panel, and chromosomal microarray analysis, to further analyze the correlation among clinicopathological features, molecular genetic aberrations, and prognosis. The ages of the patients ranged from 4 to 16 years (median, 14 y). Seven cases were moderately differentiated, and one was poorly differentiated with heterologous mesenchymal elements. Two cases had heterologous epithelium or retiform elements. Follow-up was available for all 8 patients (median, 49.5 mo). Seven patients were alive without evidence of recurrence or metastasis, and only case 5 developed metastases (synchronous bilateral pulmonary tumors with rhabdomyosarcomatous differentiation). All 8 tumors were found to harbor somatic hotspot DICER1 mutations, and 5 patients carried germline DICER1 mutations (2 of them had the phenotype of DICER1 syndrome). Together with recent studies, the DICER1 mutation frequency is 100% in pediatric SLCTs (n=27, age≤16 y). Copy number alterations were detected in 3 tumors; the only recurrent copy number alterations was the gain of whole chromosome 6 in case 5 and case 8. This is the first report describing clinicopathological features and molecular alterations in pediatric SLCTs. Our results demonstrate that all pediatric SLCTs belong to the DICER1-mutant molecular subtype, highlighting that somatic hotspot DICER1 mutation detection has high sensitivity (100%) for the auxiliary diagnosis of pediatric SLCTs (age ≤16 y). Some pediatric SLCTs harbor molecular genetic aberrations other than DICER1 mutation, and their significance needs further study.

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Overexpression of the BCL2 gene in a Sertoli–Leydig cell tumor of the ovary: a pathologic and cytogenetic study

Cited by 13 publications

References 19 publications

Investigating differentiation mechanisms of the constituent cells of sex cord-stromal tumours of the ovary

Investigating differentiation mechanisms of the constituent cells of sex cord-stromal tumours of the ovary

Virilizing ovarian tumor in a 14‐year‐old female with a prior familial multinodular goiter

Pediatric Sertoli-Leydig Cell Tumors of the Ovary

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