Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome

Hashimoto, Kazunori; Horibe, Yu; Ezaki, Jiro; Kanno, Toshiyuki; Takahashi, Nobuko; Akizawa, Yoshika; Yamamoto, Tomoko; Shibata, Noriyuki

doi:10.21873/anticanres.11782

Cited by 6 publications

(6 citation statements)

References 8 publications

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“…One out of the 13 patients was diagnosed with streak gonad. In general, this type of gonadal abnormality is observed in patients with pure and syndromic gonadal dysgenesis, which is associated with the development of gonadoblastoma (32–34).…”

Section: Discussionmentioning

confidence: 99%

Disorders of sex development: Genetic characterization of a patient cohort

et al. 2019

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Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as ‘other’ since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broad-spectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations.

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Section: Discussionmentioning

confidence: 99%

Disorders of sex development: Genetic characterization of a patient cohort

et al. 2019

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“…Gonadoblastoma usually occurs in the second decade of life but can develop as early as 9 months of age in children with gonadal dysgenesis [ 31 ]. Hashimoto et al [ 13 ] recommended that patients diagnosed with Frasier syndrome should undergo an early gonadectomy, as performed in our patient. The standard chemotherapy for end-stage malignant germ cell tumors is a combinative treatment of bleomycin, etoposide, and cisplatin.…”

Section: Discussionmentioning

confidence: 90%

“…This gene is highly expressed in the nephrogenic zone, proximal tubules, and podocytes, and its normal function is essential for glomerular differentiation, genital development, and tumor suppression [ 12 ]. In patients with FS, a donor splice site mutation on WT1 intron 9 (intervening sequence (IVS 9)) results in glomerular lesions, resulting in proteinuria and nephrotic syndrome in childhood and a subsequent progression to renal failure [ 13 ]. On the other hand, the reduction of the WT1 + KTS heterodimer, due to the disruption of alternative splicing of the WT1 gene, is associated with a reduced expression of the transcription factors SRY and SOX9 in Sertoli cells, which affects testicular development and leads to gonadal dysplasia [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy

et al. 2023

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Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (female external genitalia with a 46 XY karyotype), and a high risk of gonadoblastoma during adolescence. Patients with FS present early in childhood with proteinuria that progressively worsens with a high likelihood of end-stage renal disease (ESRD). Herein, we report a 15-year-old female (karyotype 46, XY) patient characterized by delayed puberty and steroid-resistant nephrotic syndrome, in whom whole genome sequencing showed a mutation in intron 9 of the WT1 gene, c.1447 + 4 C>T. This is the first case of FS with delayed puberty as the first complaint with no previous renal symptoms. We consider delayed puberty as an important manifestation of FS and summarize the diagnostic process of delayed puberty in the female phenotype. For clinicians, delayed puberty is a common disorder in pediatrics but requires vigilance for some rare causes. Etiological screening and chromosome karyotype analysis are important for the early diagnosis of FS in patients with delayed puberty.

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“…Squamous cell carcinoma is the most common primary tumor in the cervix. Other rare primary tumors include clear-cell carcinoma and small-cell carcinoma, [1][2][3] primary lymphoma, 4 cervical choriocarcinoma, 5 sarcoma of the uterine cervix, 6 malignant melanoma, 7 Wilm's tumor, 8 and malignant peripheral neurilemmoma of cervical fibroblasts. 9 Cervical cancer primarily presents with hemorrhage in the early disease stage.…”

Section: Introductionmentioning

confidence: 99%

Ultrasonographic diagnosis in rare primary cervical cancer

Zheng

et al. 2021

Int J Gynecol Cancer

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IntroductionAlthough ultrasonography has been reported to have similar diagnostic accuracy to magnetic resonance imaging, it is not a standard imaging modality for cervical cancer. We aimed to summarize the ultrasonographic features of rare primary cervical cancer.MethodsThis was a retrospective study of patients with cervical cancer who were diagnosed between June 2014 and October 2019. They were divided into common-type cervical cancer (ie, cervical squamous cell carcinoma) and rare-type cervical cancer groups including adenocarcinoma, adenosquamous carcinoma, and small cell carcinoma. All patients were staged according to the tumor, nodes, and metastases criteria.ResultsOf the 64 patients, the diagnosis was suspected on ultrasonography in 61 (95.3%) patients and missed on ultrasonography in three patients. The tumor size was smaller in the rare-type cervical cancer group (p<0.05). Hypoechoic lesions in common-type cervical cancer and isoechoic lesions accounted for 74.4% (32/43) and 61.9% (13/21) of patients in the rare-type cervical cancer group, respectively (p<0.001). Meanwhile, 67.4% (29/43) of tumors in common-type cervical cancer were exophytic, while 66.7% (14/21) in rare-type cervical cancer were endophytic (p=0.01). Color Doppler blood signals, as compared with normal cervical tissue, were found in all patients. There was good consistency between ultrasonographic and pathologic diagnosis of rare-type cervical cancer (weighted kappa=0.87).ConclusionsMost patients with rare-type cervical cancer present with isoechoic lesions. The coincidence rate between ultrasonographic and pathologic diagnosis of rare-type cervical cancer is 87%.

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Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome

Abstract: Although a rare disease, the diagnosis of FS should be considered in the case of primary amenorrhea with nephropathy. Prophylatic gonadectomy is recommended due to the high risk of gonadoblastoma in the dysgenetic gonad.

Cited by 6 publications

References 8 publications

Disorders of sex development: Genetic characterization of a patient cohort

Disorders of sex development: Genetic characterization of a patient cohort

Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy

Ultrasonographic diagnosis in rare primary cervical cancer

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