Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma

Zhu, Honglan; Bao, Dongmei; Wang, Yue; Shen, Danhua; Li, Yang; Cui, Heng

doi:10.4103/0366-6999.185864

Cited by 10 publications

(6 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the literature few papers used a control group describing potential associations of syndromes and later emergence of eGCTs [39][40][41][42][43]. Whereas some previous papers only reported associations between tumor and syndrome in cases [44][45][46][47], a recent paper with a control group allowing for individual case control analysis with adjustment confirmed a strong statistical association for Klinefelter with comparison to controls, but not for Turner and Down syndrome [19]. Our data confirmed the latter.…”

Section: Discussionsupporting

confidence: 81%

Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

Schultewolter,

Rißmann,

Von Schweinitz

et al. 2024

Preprint

View full text Add to dashboard Cite

GCTs are developmental tumors and likely to reflect ontogenetic and teratogenetic determinants. The objective was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were used. According to Teilum's holistic concept malignant and benign teratomas were registered. We used a case control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated and p-values for Fisher’s exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7-2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2-88.6). We additionally found 17 isolated cases of eGCT with a wide range of syndromes, however not significantly associated following Bonferroni correction. All these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies.

show abstract

Section: Discussionsupporting

confidence: 81%

Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

Schultewolter,

Rißmann,

Von Schweinitz

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…The gonadoblastoma is the most common tumor in 46, XY PGD, and YST is rare and has usually been reported as a coexistent tumor with other GCTs in such patients 25–29. In this case, the gonadal tumor in the first surgery was YST without other GCT or SM elements, and more specifically, it transformed into SMs during the disease process.…”

Section: Discussionmentioning

confidence: 75%

<p>Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis</p>

Zong

Yang

Zhang

et al. 2019

OTT

View full text Add to dashboard Cite

46, XY pure gonadal dysgenesis (PGD) is characterized as a female phenotype with strip-like gonads, which has a high tendency to develop into gonadal tumors. Somatic-type malignancies of germ cell tumors (SMs of GCTs) refer to the presence of malignant non-germ cell histologies admixed with GCTs, which are usually chemoresistant and indicate poor prognosis. This case report aimed to analyze the special histological type of GCTs and the importance of salvage surgery in the treatment of refractory GCTs. We report a unique case of gonadal yolk sac tumor (YST) transformed into SMs in a patient with 46, XY PGD. This 18-year-old woman underwent laparoscopic pelvic tumor resection, considered her first surgery, 2 years ago, and pathology revealed YST with initial alpha-fetoprotein (AFP) level measuring >3,000 ng/mL. She underwent seven cycles of chemotherapy, and the AFP level decreased to within a normal range after the second cycle. However, a computed tomography scan after the seventh cycle revealed abdominal and pelvic metastases, and vaginal bleeding was continuously observed. Laparoscopic exploration and laparotomy with tumor subtotal resection were performed. A pathology report showed SMs (sarcoma) derived from YST. Whole exome sequencing demonstrated that the main somatic mutation was a non-synonymous mutation of KRAS (c.182A>G), and this result did not show any indications for targeted drugs. She received three cycles of PEI (cisplatin, etoposide, and ifosfamide) chemotherapy but showed no response. She refused to undergo further treatment and has been alive with the disease for 7 months. This suggests that SMs may be one of the reasons for chemoresistance of refractory GCTs, and salvage surgery may be one of the most effective treatments for this patient. Targeted therapy may be a new choice for chemoresistant GCTs, but drug selection must be based on gene sequencing, and its efficacy still needs to be verified by further study.

show abstract

“…6,19,20 Preoperatively, CA-125 was increased in our patient while the other tumour markers were normal, namely, b-hcG, 21 LDH 5 and AFP. 22 Although the excised ovarian tumour was unilateral and did not show any evidence of local spread or metastases, several cases of disseminated malignancy have been reported previously. 23,24 Histopathological examination of the resected specimen revealed a dysgerminoma restricted to the right ovary, positive for Oct4 and CD117.…”

Section: Casementioning

confidence: 85%

Swyer Syndrome Presenting as Dysgerminoma: A Case Report

Tarenia¹,

Chattopadhyay²,

Das³

et al. 2023

JAFES

View full text Add to dashboard Cite

Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-yearold Indian male with Swyer syndrome presenting with primary amenorrhoea and with an earlier diagnosis of a malignant dysgerminoma in the right ovary.

show abstract

Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma

Cited by 10 publications

References 4 publications

Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

Non-syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors (eGCT): Data of 2,610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population

<p>Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis</p>

Swyer Syndrome Presenting as Dysgerminoma: A Case Report

Contact Info

Product

Resources

About