Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

Gawrychowska, Ada; Iżycka‐Świeszewska, Ewa; Lipska‐Ziętkiewicz, Beata S.; Kuleszo, Dominika; Bautembach-Minkowska, Joanna; Łosin, Marcin; Stefanowicz, Joanna

doi:10.3390/diagnostics10121067

Cited by 5 publications

(7 citation statements)

References 31 publications

(22 reference statements)

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“…[3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] As examples of cases of dysgerminoma without the Y chromosome except for phenotypically normal female, dysgerminoma in Turner syndrome patients without the Y chromosome has also been reported. 36 The majority of chromosome karyotypes in Turner syndrome are 45X, X chromosome monosomy. 37 The factors related to the phenotype of Turner syndrome patients are short stature homeobox-containing gene on Xp22 38 and Xp-, Yp-homologous lymphogenic genes.…”

Section: Discussionmentioning

confidence: 99%

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Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report

Nagata¹,

Shimada²,

Eishi³

et al. 2023

IMCRJ

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We report a case of dysgerminoma in a 22-year-old woman diagnosed with chromosomal abnormality, balanced translocation 46X,t(X:1)(q22;q21). She had received hormone replacement therapy for 7 years for primary amenorrhea. She visited a primary care physician because of lower abdominal distension, and a large tumor in the pelvis was discovered. She was admitted to our hospital for further examination of the pelvic tumor. She underwent laparotomy and was diagnosed with stage IIIA1 dysgerminoma (pT3apN0pM0) of the left ovary. Young female patients without the Y chromosome who are treated for primary amenorrhea may also develop malignant germ cell tumors; therefore, gynecologists should provide hormone replacement therapy and periodic pelvic evaluation.

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Section: Discussionmentioning

confidence: 99%

“…Only a few studies about the relationship between c-kit mutation and dysgerminomas have been reported. 26,30,31,36,41 It is important to accumulate case reports to further elucidate the mechanism of dysgerminoma.…”

Section: Discussionmentioning

confidence: 99%

Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report

Nagata¹,

Shimada²,

Eishi³

et al. 2023

IMCRJ

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“…Current recommendations advocate individualized and conservative approach by taking into account specific location of the gonads (scrotal or non-scrotal), the internal and external phenotype and sex of rearing 6 . GH therapy, usually implemented in women with Turner syndrome, is another risk factor of neoplasia development 7 , thus the pros and cons should be considered before going ahead with the treatment.…”

Section: Discussionmentioning

confidence: 99%

Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

Koczkowska

Jąkalski

Birkholz-Walerzak

et al. 2022

Sci Rep

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Numeric sex chromosome abnormalities are commonly associated with an increased cancer risk. Here, we report a 14-year-old boy with a rare mosaic 45, X/48, XYYY karyotype presenting with subtle dysmorphic features and relative height deficiency, requiring growth hormone therapy. As only 12 postnatal cases have been described so far with very limited follow-up data, to assess the proband’s long-term prognosis, including cancer risk, we performed high-throughput single-cell RNA sequencing (scRNA-seq) analysis. Although comprehensive cytogenetic analysis showed seemingly near perfect balance between 45, X and 48, XYYY cell populations, scRNA-seq revealed widespread differences in genotype distribution among immune cell fractions, specifically in monocytes, B- and T-cells. These results were confirmed at DNA level by digital-droplet PCR on flow-sorted immune cell types. Furthermore, deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45, X B-lymphocytes and other known genes associated with hematological malignancies. Together with the standard hematological results, showing increased fractions of monocytes and CD4+/CD8+T lymphocytes ratio, long-term personalized hemato-oncological surveillance was recommended in the reported patient.

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“…About 75% dysgerminomas occur in adolescents and young adults [2] . Dysgenic gonads and sexual maldevelopment as represented by Turner syndrome, testicular feminization and triple X syndrome are supposed to be related to the occurrence of dysgerminoma [3] …”

Section: Introductionmentioning

confidence: 99%

“…[2] Dysgenic gonads and sexual maldevelopment as represented by Turner syndrome, testicular feminization and triple X syndrome are supposed to be related to the occurrence of dysgerminoma. [3] Meigs syndrome is a rare condition that manifests as an ovarian fibroma or fibroma-like tumor with ascites and pleural effusion. The hydrops usually resolves after removal of the tumor.…”

Section: Introductionmentioning

confidence: 99%

Ovarian dysgerminoma with pseudo-Meigs syndrome

Chen

Jin

et al. 2021

Medicine

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Rationale: Dysgerminoma is a rare malignant tumor of the ovary, more frequently occurring in young women. The main signs of pseudo-Meigs syndrome (PMS) are ascites and hydrothorax accompanying benign or malignant ovarian tumors (no fibroma or fibroma-like tumor). Patient concerns: A 19-year-old woman with fever and chest tightness for 2 days. Diagnoses: Pectoral-abdominal computed tomography (CT) scan and contrast-enhanced magnetic resonance imaging revealed a large amount of right pleural effusion, a small amount of ascites, and a huge abdominopelvic mass measuring about 29.2cm × 11.8cm × 8.4 cm in the left ovary. The result of hydrothorax examination was consistent with the diagnosis of exudative pleural effusion. In addition, Rivalta-test showed a positive result and lactate dehydrogenase was elevated. The histopathological diagnosis was a giant germ cell tumor, which was consistent with dysgerminoma in terms of both morphology and immunophenotype. Based on these findings, a diagnosis of malignant ovarian neoplasm with PMS was made. Interventions: Surgical resection of the tumor was performed. Outcomes: The patient recovered well after operation, and the pleural effusion and abdominal ascites vanished. No recurrence was observed during the 1-year follow-up period. Lessons: Ovarian dysgerminoma with PMS is a rare malignant tumor of the ovary, which often occurs in young women. It should be considered in differential diagnosis of patients with a pelvic mass, ascites and pleural effusion. Early diagnosis and surgical treatment are beneficial to prolonged survival.

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Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

Cited by 5 publications

References 31 publications

Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report

Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report

Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype

Ovarian dysgerminoma with pseudo-Meigs syndrome

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