Retiform Sertoli-Leydig Cell Tumor in a 38-Year-Old Woman: A Case Report, Retrospective Review, and Review of Current Literature

Nwogu, Laura C; Showalter, Josh; Roy, Suvra; Deavers, Michael T.; Zhao, Bihong

doi:10.1155/2017/3421832

Cited by 4 publications

(3 citation statements)

References 27 publications

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“…Ovarian sex cord-stromal tumors have been associated with DICER1 mutations [ 54 , 55 ], specifically, ovarian Sertoli–Leydig cell tumors. While rare among all ovarian neoplasms (<0.5%) [ 56 ], a recent study indicated that 57% of individuals with ovarian Sertoli–Leydig cell tumors also harbored DICER1 germline mutations [ 46 ]. Another study confirmed this, indicating that more than 60% of ovarian Sertoli–Leydig cell tumors diagnosed harbored DICER1 mutations within the RNase III domains [ 57 ].…”

Section: Manifestations Of Dicer1 Gene Mutationmentioning

confidence: 99%

DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Robertson

Jorcyk

Oxford

2018

Cancers

133

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DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. Since the first description of DICER1 syndrome, case reports have documented novel germline mutations of the DICER1 gene in patients with cancers as well as second site mutations that alter the function of the Dicer protein expressed. Here, we present a review of mutations in the DICER1 gene, the respective protein sequence changes, and clinical manifestations of DICER1 syndrome. Directions for future research are discussed.

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Section: Manifestations Of Dicer1 Gene Mutationmentioning

confidence: 99%

DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Robertson

Jorcyk

Oxford

2018

Cancers

133

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“…[12]) summarizes the prevalence of each SLCT subtype, as well as the prevalence of SLCTs with heterologous elements. Although the retiform variant mostly occurs in the younger age group with an average age of 16 years [15], Rathi et al (2015) [15] and Nwogu et al (2017) [17] separately each reported a rare case of bilateral retiform variant of an SLCT in two different middle-aged women.…”

Section: Epidemiologymentioning

confidence: 97%

Review on Sertoli-Leydig Cell Tumours of the Ovary

Muscat,

Calleja-Agius

2024

Discovery Medicine

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Sertoli-Leydig cell tumours (SLCTs) represent a subset of mixed sex cord-stromal tumours (SCSTs), a rare form of non-epithelial ovarian tumours comprising less than 7% of malignant cases. Among other types of SCSTs, SLCTs are one of the more prevalent types observed in young adults. SLCTs are classified into 5 histologic categories based on differentiation levels and histological variants. Diverse chromosomal and genetic mutations have been identified in SLCTs, with the most well-studied being the genetic mutations observed in the Dicer 1, Ribonuclease III (DICER1) and the Forkhead Box L2 (FOXL2) genes. These mutations have important clinical implications and their mechanisms are discussed. Particularly, this review emphasizes the correlation between tumour differentiation, mutation status and virilization. Current common methods and difficulties in the clinical diagnosis of SLCTs are also considered, and the usefulness of immunohistochemistry is highlighted. Patient stratification for treatment is done according to the patient's age, stage of disease and prognostic factors. The gold standard of treatment is surgical resection and adjuvant chemotherapy is administered based on the risk of recurrence. The management of recurrence remains a major challenge. Apart from recurrence, there is also a risk of the development of a metachronous tumour, especially in patients with DICER1 syndrome. Hence, the diagnosis of a SLCT has important implications for genetic testing and patient surveillance even if the management of the tumour is successful. This scoping review serves to consolidate current knowledge on SLCTs and advocates for future research advancements to refine diagnosis, management, and prognosis.

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“…Опухоли клеток Сертоли-Лейдига являются достаточно редкими среди всех злокачественных образований яичников (менее 1%) [18], однако данные многочисленных исследований сообщают, что более 60% пациентов с Сертоли-Лейдига клеточными образованиями имели мутацию в гене DICER1 [19,20]. По данным de Kock et al, были изучены 34 пациента с подобными образованиями, и в 88% выявлены патологические изменения в гене DICER1 [21].…”

Section: опухоли стромы полового тяжаunclassified

DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics

Novokreshennih,

Kolodkina,

Bezlepkina

2023

Probl Endokrinol (Mosk)

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DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations – multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non–endocrine formations — pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.

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Retiform Sertoli-Leydig Cell Tumor in a 38-Year-Old Woman: A Case Report, Retrospective Review, and Review of Current Literature

Cited by 4 publications

References 27 publications

DICER1 Syndrome: DICER1 Mutations in Rare Cancers

DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Review on Sertoli-Leydig Cell Tumours of the Ovary

DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics

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