Recurrent gynandroblastoma of the ovary with germline DICER1 mutation: A case report and review of the literature

Mercier, Ann Marie; Zorn, Kristin K.; Quick, Charles M.; Huffman, Laura

doi:10.1016/j.gore.2021.100806

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Amenorrhea is observed in 54% of the cases [195]. Although most tumors are considered benign [8], very rare recurrences have been reported, sometimes in patients with a DICER1 germline variant [195][196][197].…”

Section: Gynandroblastomamentioning

confidence: 99%

“…Concerning molecular pathology, DICER1 somatic variants have been identified in 19-40% of gynandroblastomas, especially in those with SLCT and juvenile granulosa cell tumor components (in both components) [159,192,201]; this somatic variant is sometimes associated with a germline variant [195][196][197]. In contrast, no variant of FOXL2 [193] nor AKT1 has been reported so far [192].…”

Section: Gynandroblastomamentioning

confidence: 99%

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Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

Trecourt,

Donzel,

Alsadoun

et al. 2023

Cancers

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Ovarian sex cord–stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse. Although the diagnosis based on morphology is straightforward, in some cases the distinction between stromal tumors and sex cord tumors may be tricky. Indeed, the immunophenotype is usually nonspecific between stromal tumors and sex cord tumors. Therefore, molecular pathology plays an important role in the diagnosis of such entities, with pathognomonic or recurrent alterations, such as FOXL2 variants in adult granulosa cell tumors. In addition, these neoplasms may be associated with genetic syndromes, such as Peutz–Jeghers syndrome for sex cord tumors with annular tubules, and DICER1 syndrome for Sertoli–Leydig cell tumors (SLCTs), for which the pathologist may be in the front line of syndromic suspicion. Molecular pathology of SCST is also relevant for patient prognosis and management. For instance, the DICER1 variant is associated with moderately to poorly differentiated SLCTS and a poorer prognosis. The present review summarizes the histomolecular criteria useful for the diagnosis of SCST, using recent molecular data from the literature.

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Section: Gynandroblastomamentioning

confidence: 99%

Section: Gynandroblastomamentioning

confidence: 99%

Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

Trecourt,

Donzel,

Alsadoun

et al. 2023

Cancers

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show abstract

“…Gynandroblastoma is a rare subtype of SCST with a combination of female (granulosa cells) and male (Sertoli and/or Leydig cells) sex cord differentiation. DICER1 hot-spot mutation is the key-driving event in a subset of gynandroblastomas containing components of SLCT and juvenile granulosa cell tumor [104,105]. The mean age of gynandroblastoma patients with DICER1 germline PVs has been reported to be 16 years old [86].…”

Section: Gynecologic Cancersmentioning

confidence: 99%

Rare Hereditary Gynecological Cancer Syndromes

Watanabe

Soeda

Endo

et al. 2022

IJMS

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Hereditary cancer syndromes, which are characterized by onset at an early age and an increased risk of developing certain tumors, are caused by germline pathogenic variants in tumor suppressor genes and are mostly inherited in an autosomal dominant manner. Therefore, hereditary cancer syndromes have been used as powerful models to identify and characterize susceptibility genes associated with cancer. Furthermore, clarification of the association between genotypes and phenotypes in one disease has provided insights into the etiology of other seemingly different diseases. Molecular genetic discoveries from the study of hereditary cancer syndrome have not only changed the methods of diagnosis and management, but have also shed light on the molecular regulatory pathways that are important in the development and treatment of sporadic tumors. The main cancer susceptibility syndromes that involve gynecologic cancers include hereditary breast and ovarian cancer syndrome as well as Lynch syndrome. However, in addition to these two hereditary cancer syndromes, there are several other hereditary syndromes associated with gynecologic cancers. In the present review, we provide an overview of the clinical features, and discuss the molecular genetics, of four rare hereditary gynecological cancer syndromes; Cowden syndrome, Peutz-Jeghers syndrome, DICER1 syndrome and rhabdoid tumor predisposition syndrome 2.

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Update on Ovarian Sex Cord–Stromal Tumors

Ordulu

2023

Clinics in Laboratory Medicine

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Recurrent gynandroblastoma of the ovary with germline DICER1 mutation: A case report and review of the literature

Cited by 4 publications

References 9 publications

Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

Rare Hereditary Gynecological Cancer Syndromes

Update on Ovarian Sex Cord–Stromal Tumors

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