Juvenile Granulosa Cell Ovarian Tumor in a Child With Beckwith–Wiedmann Syndrome

Lamas-Pinheiro, Rúben; Martins, Mariana Leonel; Lobo, Ana Blasco; Bom-Sucesso, Maria; Henriques‐Coelho, Tiago; Estevão‐Costa, José

doi:10.1002/pbc.25845

Cited by 4 publications

(4 citation statements)

References 11 publications

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“…Moreover, novel marker genes within each cluster were identified, whose expressions varied according to the developmental stages (Figures S5A and S5B). For example, at PD3, Serpine2 a gene encoding a member of the serpin family of proteins, a group of proteins that inhibit serine proteases and also expressed by granulosa cells in human adult ovary (Fan, Bialecka et al, 2019), and Aldh1b1 and Aldh1a1 encoding enzymes of the oxidative pathway of alcohol metabolism, reported to be associated with ovarian cancer (Marcato, Dean et al, 2011, Saw, Yang et al, 2012); at E16.5, Cdk1c encoding an inhibitor of several G1 cyclin/CDK complexes, a marker of juvenile granulosa cell tumors (Lamas Pinheiro, Martins et al, 2016).…”

Section: Resultsmentioning

confidence: 99%

Transcriptome Landscape Reveals Underlying Mechanisms of Ovarian Cell Fate Differentiation and Primordial Follicle Assembly

Wang

Zhai

et al. 2019

Preprint

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Primordial follicle assembly in mammals occurs at perinatal ages and largely determines the ovarian reserve available to support the reproductive lifespan. The primordial follicle structure is generated by a complex network of interactions between oocytes and ovarian somatic cells that remain poorly understood. In the present research, using single-cell RNA sequencing performed over a time-series on mouse ovaries coupled with several bioinformatics analyses, the complete dynamic genetic programs of germ and granulosa cells from E16.5 to PD3 are reported for the first time. The time frame of analysis comprises the breakdown of germ cell cysts and the assembly of primordial follicles. Confirming the previously reported expression of genes by germ cells and granulosa cells, our analyses identified ten distinct gene clusters associated to germ cells and eight to granulosa cells. Consequently, several new genes expressed at significant levels at each investigated stage were assigned. Building single-cell pseudo temporal trajectories five states and two branch points of fate transition for the germ cells, and three states and one branch point for the granulosa cells were revealed. Moreover, GO and ClueGO term enrichment enabled identifying biological processes, molecular functions and cellular components more represented in germ cells and granulosa cells or common to both cell types at each specific stage. Finally, by SCENIC algorithm, we were able to establish a network of regulons that can be postulated as likely candidates for sustaining germ cell specific transcription programs throughout the investigated period.

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Section: Resultsmentioning

confidence: 99%

Transcriptome Landscape Reveals Underlying Mechanisms of Ovarian Cell Fate Differentiation and Primordial Follicle Assembly

Wang

Zhai

et al. 2019

Preprint

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“…Patients usually present with symptoms attributable to the pelvic mass (pelvic/abdominal pain, abdominal swelling), and estrogenic manifestations (isosexual pseudoprecocity in 82% of prepubertal patients, or menstrual irregularities, amenorrhea, or uterine bleeding in older patients), or rarely androgenic manifestations with virilization [8,19,120,135]. This neoplasm has rarely been reported in association with Ollier disease, Maffucci syndrome, DICER1 syndrome, Beckwith-Wiedmann syndrome, and tuberous sclerosis [135][136][137][138][139][140][141].…”

Section: Juvenile Granulosa Cell Tumormentioning

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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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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confidence: 99%

“…In a recent paper, Lamas Pinheiro and colleagues report an unusual granulosa cell ovarian tumor, due to a mutation of the Cyclin Dependant Kinase 1c (CDKN1C) gene in a young girl with Beckwith-Wiedemann syndrome (BWS). 1 BWS is a rare imprinting disorder which has been known for years to be associated with an increased risk of embryonic tumors during early childhood. A strong correlation between tumor risk and the molecular mechanism has been reported, with patients who carry CDKN1C mutations having an intermediate risk of developing tumors, mostly adrenal tumors (neuroblastomas).…”

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confidence: 99%

Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith‐Wiedemann syndrome

Brioude

Netchine

2017

Pediatric Blood & Cancer

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Juvenile Granulosa Cell Ovarian Tumor in a Child With Beckwith–Wiedmann Syndrome

Cited by 4 publications

References 11 publications

Transcriptome Landscape Reveals Underlying Mechanisms of Ovarian Cell Fate Differentiation and Primordial Follicle Assembly

Transcriptome Landscape Reveals Underlying Mechanisms of Ovarian Cell Fate Differentiation and Primordial Follicle Assembly

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

Comment on: Juvenile granulosa cell ovarian tumor in a child with Beckwith‐Wiedemann syndrome

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