Mucinous Carcinoid as an Unusual Manifestation of Endodermal Differentiation in Ovarian Yolk Sac Tumors

AbstractYolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2, and amplified ZNF217, CDKN1B, and KRAS. YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies.

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Parental occupation and childhood germ cell tumors: a case–control study in Denmark, 1968–2016

Cancer Causes & Control ◽

10.1007/s10552-021-01434-0 ◽

2021 ◽

Author(s):

Clinton Hall ◽

Johnni Hansen ◽

Jørn Olsen ◽

Di He ◽

Ondine S. von Ehrenstein ◽

...

Keyword(s):

Germ Cell ◽

Maternal Employment ◽

Case Control Study ◽

Germ Cell Tumors ◽

Social Contact ◽

Case Control ◽

Yolk Sac ◽

Parental Occupation ◽

Yolk Sac Tumors ◽

Control Study

Abstract Purpose To examine associations between parental occupation and childhood germ cell tumors (GCTs) in offspring while distinguishing by common histologic subtype (i.e., yolk sac tumor and teratoma). Methods This population-based case–control study included childhood GCT cases in Denmark diagnosed 1968–2015 (< 16 years old at diagnosis) and sex and birth year-matched controls. Demographic information and parental employment histories were obtained from Danish registries. Parental occupation was assessed by industry; job-exposure matrices were used to examine specific occupational exposures (i.e., potentially carcinogenic organic solvents and social contact). Conditional multivariable logistic regression models were used to estimate odds ratios (OR) and 95% confidence intervals (CIs). Results Overall, 178 childhood GCT cases (50 yolk sac tumors; 65 teratomas) and 4,355 controls were included for analysis. Maternal employment in education during pregnancy was associated with offspring GCTs (OR 2.45, 95% CI 1.23–4.90), especially yolk sac tumors (OR 5.27, 95% CI 1.94–14.28). High levels of both maternal and paternal occupational social contact were also associated with offspring yolk sac tumors across all exposure periods (ORs 2.30–4.63). No signals were observed for paternal occupational solvent exposure, while imprecise associations were estimated for maternal exposure (e.g., dichloromethane exposure during pregnancy, OR 1.51, 95% CI 0.77–2.95). Conclusion Our findings suggest that parental occupation is associated with offspring GCTs, with most consistent evidence supporting an association between maternal employment in education or other high social contact jobs and offspring yolk sac tumors.

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Nasopharyngeal Yolk Sac Tumors: A Rare Pediatric Occurrence

Ear Nose & Throat Journal ◽

10.1177/014556131309200806 ◽

2013 ◽

Vol 92 (8) ◽

pp. 336-338

Author(s):

Belinda Mantle ◽

Ryan F. Osborne

Keyword(s):

Yolk Sac ◽

Yolk Sac Tumors

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Yolk sac tumors of the head in children

Advances in Anatomic Pathology ◽

10.1097/00125480-199607000-00010 ◽

1996 ◽

Vol 3 (4) ◽

pp. 240

Author(s):

Fukunaga M ◽

Miyazawa Y ◽

Harada T ◽

Ushigome S ◽

Ishikawa E

Keyword(s):

Yolk Sac ◽

Yolk Sac Tumors

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R452 – Nasopharyngeal Yolk Sac Tumors: A Rare Pediatric Occurrence

Otolaryngology ◽

10.1016/j.otohns.2008.05.609 ◽

2008 ◽

Vol 139 (2_suppl) ◽

pp. P196-P196 ◽

Cited By ~ 1

Author(s):

Lorraine M Smith ◽

Ryan F Osborne

Keyword(s):

Head And Neck ◽

Clinical Presentation ◽

Yolk Sac ◽

High Dose ◽

Presenting Symptoms ◽

Mild Improvement ◽

Pathologic Features ◽

Yolk Sac Tumors ◽

Infant Girl ◽

High Level

Problem To report the rare occurrence of a yolk sac tumor of the nose and nasopharynx presenting as acute sinusitis and bilateral complete blindness. Methods The clinical presentation, pathologic features, and management of this 2-year-old infant girl is reviewed. We also performed a medical literature search in English using PUBMED and OVID databases. We then analyzed the literature with respect to clinical presentation, manifestations and therapies for other extra-gonadal yolk sac tumors presenting in the head and neck. Results The patient was treated with 4 courses of high dose cis-platinum, etoposide, bleomycin repeated every 3 weeks along with surgery. She had initial mild improvement in visual perception along with shrinkage of her tumor. The yolk sac malignancies of the head and neck are often, large, aggressive lesions on presentation that once treated have a tendency to recur. Conclusion Yolk sac tumors (endodermal sinus tumors) represent 3–5% of pediatric malignancies. They are rare malignancies in the head and neck, of germ cell origin. Successful treatment usually requires a combination of chemotherapy and surgical extirpation followed by postoperative chemotherapy. Significance Recurrent sinusitis and nasal obstruction in children should be evaluated carefully and with a high level of suspicion for rare nasal and nasopharyngeal malignancies. Early diagnosis and prompt treatment may alleviate many of the presenting symptoms and prolong life.

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Relapse in children with clinical stage I testicular yolk sac tumors after initial orchiectomy

Pediatric Surgery International ◽

10.1007/s00383-018-04426-5 ◽

2018 ◽

Vol 35 (3) ◽

pp. 383-389 ◽

Cited By ~ 2

Author(s):

Yun-lin Ye ◽

Fu-fu Zheng ◽

Dong Chen ◽

Ji Zhang ◽

Zhuo-wei Liu ◽

...

Keyword(s):

Clinical Stage ◽

Yolk Sac ◽

Stage I ◽

Yolk Sac Tumors

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Ovarian Yolk Sac Tumor: A Case Report with Review Of Literature

The Journal of Medical Sciences ◽

10.5005/jp-journals-10045-0026 ◽

2016 ◽

Vol 2 (1) ◽

pp. 15-17

Author(s):

A Sreehari ◽

BM Rupakala

Keyword(s):

Case Report ◽

Early Adulthood ◽

Germ Cell Tumors ◽

Yolk Sac ◽

Immature Teratoma ◽

Yolk Sac Tumor ◽

Histological Subtype ◽

Review Of Literature ◽

Yolk Sac Tumors ◽

Ovarian Dysgerminoma

ABSTRACT A total of 3 to 5% of all ovarian malignancies include malignant ovarian germ cell tumors (MOGCTs). They are subdivided into germinomatous and non-germinomatous tumors. Common types of non-germinomatous tumors include yolk sac and immature teratoma. Ovarian yolk sac tumors (YST) are the second most frequent histological subtype of MOGCTs, after ovarian dysgerminoma. They account for 20% of MOGCTs and are frequent especially in childhood and in early adulthood. We report the case of a yolk sac tumor of the ovary in a 13yrs years old female. How to cite this article Sreehari A, Rupakala BM, Sarojamma C. Ovarian Yolk Sac Tumor: A Case Report with Review of Literature. J Med Sci 2016;2(1):15-17.

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Somatically derived Yolk Sac tumor of the urinary bladder: A case report and differential diagnosis

10.21203/rs.2.24486/v1 ◽

2020 ◽

Author(s):

Nadia Espejo-Herrera ◽

Enric Condom Mundó

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Urinary Bladder ◽

Urothelial Carcinoma ◽

Final Diagnosis ◽

Yolk Sac ◽

Yolk Sac Tumor ◽

High Grade ◽

Yolk Sac Tumors ◽

Urinary Bladder Tumor

Abstract Background: Yolk sac tumor is a germ cell neoplasm that arises predominantly in the gonads, but can also derive from somatic neoplasms in extragonadal locations. These cases have been denominated recently as “somatically derived Yolk sac tumors”, and have been documented in several locations, although reports from the urinary tract are scarce. To our knowledge, this is the first report of a Yolk sac tumor derived from urothelial carcinoma. Case presentation: We present a unique case of a 76-year-old man with a recurrent urinary bladder tumor, initially interpreted as a high grade urothelial carcinoma with glandular differentiation. In the recurrent tumor, diverse histological patterns were identified, including glandular, hepatoid and sarcomatoid. This tumor showed positivity for AFP, GLP3 and SALL4, and negativity for CK7 and EMA. Fluorescent in situ hybridization study showed a polysomic pattern of chromosome 12. All these findings led to the final diagnosis of a Yolk sac tumor derived from urothelial carcinoma. Conclusions: Somatically derived Yolk Sac tumors should be considered in the differential diagnosis of a high grade urothelial carcinoma, particularly when glandular and other unusual patterns are observed. Key words: Yolk sac tumor, somatically derived, urothelial carcinoma, urinary bladder, case report.

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