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Asian Journal of Surgery Dec 2023
Topics: Humans; Endodermal Sinus Tumor; Neoadjuvant Therapy; Feasibility Studies; Mediastinal Neoplasms; Combined Modality Therapy; Antineoplastic Combined Chemotherapy Protocols
PubMed: 37739897
DOI: 10.1016/j.asjsur.2023.09.050 -
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke... Aug 2023
Topics: Child; Humans; Endodermal Sinus Tumor
PubMed: 37599242
DOI: 10.3760/cma.j.cn115330-20220908-00552 -
Fetal and Pediatric Pathology Oct 2023Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can...
BACKGROUND
Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can occur in multiple extragonadal sites, of which sacrococcygeal, retroperitoneum, gastric and mediastinum are the commonest. There are 4 previous reports of primary penile YST.
CASE REPORT
We describe a primary penile yolk sac tumor in a child with achondroplasia.
CONCLUSION
Yolk sac tumor can occur in the penis during the prepubertal period. Penile yolk sac tumor associated with achondroplasia has not been previously reported, but this could be incidental.
Topics: Male; Humans; Child; Endodermal Sinus Tumor; Neoplasms, Germ Cell and Embryonal; Penis
PubMed: 37534583
DOI: 10.1080/15513815.2023.2242941 -
Indian Journal of Pathology &... 2023We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the...
We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.
Topics: Child; Female; Humans; Infant; Child, Preschool; Endodermal Sinus Tumor; Etoposide; Orbit; Magnetic Resonance Imaging; Exophthalmos
PubMed: 37530363
DOI: 10.4103/IJPM.IJPM_741_21 -
International Urology and Nephrology Nov 2023The aim of this study was to identify epidemiological and histopathological patterns of pediatric testicular tumor (TT) in Saudi population over 10 years.
BACKGROUND/OBJECTIVE
The aim of this study was to identify epidemiological and histopathological patterns of pediatric testicular tumor (TT) in Saudi population over 10 years.
METHODS
Retrospective data extracted from the Saudi Cancer Registry for Saudi children diagnosed with TT from 2008 to 2017. The data collected included patient's factors as age, year of diagnosis, survival status, and tumor factors as basis of diagnosis, origin of the tumor, histopathological group and subtype, and tumor behavior, stage, and laterality.
RESULTS
A total of 115 patients with a median age of 14 (IQR 1.5-17) were included. The primary tumor site was a normal descended testis in 98.3% (115). Yolk sac tumor was the most common 28.2% (33), followed by embryonal carcinoma in 27.4% (32) and mixed germ-cell tumors in 23.1% (27). Kaplan-Meier analysis revealed significant association between survival and the stage of the tumor (p = 0.002). However, there was a lack of significant association between survival and age groups, histopathological groups, and histopathological subtypes (p = 0.541, p = 0.609, and p = 0.733, respectively). The overall mortality rate of TT 5.2% with all deaths caused by non-seminomatous germ-cell tumor diagnosed with stage 3.
CONCLUSIONS
The median age of the patients was 14 years. Yolk sac tumors were the most common while testicular choriocarcinomas were the least in incidence. No increase in the incidence of TT was seen and the mortality rate over the 10-year period was 5.2%. Shorter survival was associated with higher tumor stage.
Topics: Male; Humans; Child; Adolescent; Retrospective Studies; Saudi Arabia; Testicular Neoplasms; Neoplasms, Germ Cell and Embryonal; Endodermal Sinus Tumor
PubMed: 37477777
DOI: 10.1007/s11255-023-03701-2 -
BMC Pregnancy and Childbirth Jul 2023Endodermal sinus tumor (EST) is a malignant tumor originating from the ovary or testis. In most case, ultrasound examination shows ovarian mass. But there is a special... (Review)
Review
BACKGROUND
Endodermal sinus tumor (EST) is a malignant tumor originating from the ovary or testis. In most case, ultrasound examination shows ovarian mass. But there is a special kind of extra-gonadal endodermal sinus tumor, which occur in organs other than gonads with insidious onset. Here we reported a case of endodermal sinus tumor, which originated from the sacral ligament presenting as an acute lower abdominal pain.
CASE PRESENTATION
A 14-year-old girl was admitted to the hospital because of acute lower abdominal pain. The ultrasound showed a mass with 72 mm × 64 mm × 50 mm in Douglas, and there was no abnormality in bilateral ovaries and fallopian tubes. Laparoscopic exploration showed a large amount of blood clots in the pelvic cavity. After removal of the blood, we found rotten fish-like tissue in the left sacral ligament, rapid pathology suggested endodermal sinus tumor. After the operation, we retrospectively examined the value of alpha-fetoprotein (AFP), which was found to be elevated, and post-operative paraffin pathology confirmed the diagnosis. After four cycles of BEP chemotherapy, exploratory laparotomy was performed to remove the visible lesion, but postoperative pathology showed no abnormality. At the one-year follow-up, the patient remained recurrence-free.
CONCLUSION
Extra-gonadal germ cell tumors are rarely reported. When young teenagers complain of acute lower abdominal pain with elevated AFP, but there was no lesion in bilateral ovaries and fallopian tubes, we must think about the possibility of endodermal sinus tumors. Accurate diagnosis facilitates complete resection of lesions and improves patient's outcomes.
Topics: Male; Female; Humans; Endodermal Sinus Tumor; alpha-Fetoproteins; Retrospective Studies; Abdominal Pain; Ligaments
PubMed: 37474890
DOI: 10.1186/s12884-023-05849-2 -
Human Immunology Oct 2023Immune checkpoint blockade (ICB) is considered as a promising approach for cancer treatment. However, the potency of ICB therapy in yolk sac tumors (YSTs) has not been...
BACKGROUND
Immune checkpoint blockade (ICB) is considered as a promising approach for cancer treatment. However, the potency of ICB therapy in yolk sac tumors (YSTs) has not been confirmed, and the comprehensive analysis of tumor immune microenvironment and the expression of PD-1/PD-L1 and CTLA4 were also not thoroughly evaluated.
METHODS
Immunohistochemistry was performed in formalin-fixed, paraffin-embedded tumor specimens from 23 YSTs patients to detect the density and distribution of tumor-infiltrating T cells, tertiary lymphoid structures (TLSs), as well as the expression of PD-1/PD-L1 and CTLA4.
RESULTS
Overall, more than half (61 %) of all patients exhibited an immune-desert phenotype based on CD3 T cells. PD-1 expression was identified in five tumor samples (21.7 %), and PD-L1 expression exhibited a different positive rate in tumor cells (TCs) and tumor-infiltrating lymphocytes (TILs) (39.1 % and 17.4 %). Noteworthily, the rate of positive CTLA4 expression in both TCs and TILs was markedly higher (69.6 % and 56.5 %) than those of PD-1 and PD-L1 expression. Furthermore, TLSs were observed in 21.74 % of all tissues, and samples with TLSs exhibited significantly higher densities of TILs and higher expression of immune checkpoint molecules, particularly PD-1/PD-L1. In addition, tumors located in testes also exhibited a higher density of TILs and higher expression of immune checkpoint molecules.
CONCLUSION
Generally a high frequency of CTLA4 expression was found, PD-1/PD-L1 expression, the immune-inflamed phenotype, and TLSs were low frequency in YSTs, however, YSTs in testes showed a higher density of TILs and higher expression of immune checkpoint molecules.
Topics: Humans; B7-H1 Antigen; CTLA-4 Antigen; Endodermal Sinus Tumor; Immune Checkpoint Proteins; Lymphocytes, Tumor-Infiltrating; Prognosis; Programmed Cell Death 1 Receptor; Tumor Microenvironment
PubMed: 37453913
DOI: 10.1016/j.humimm.2023.07.003 -
BMC Women's Health Jun 2023Yolk sac tumour (YST) is the second most common ovarian germ cell tumour and usually presents in children and young women. However, tumours rarely occur as malignant...
BACKGROUND
Yolk sac tumour (YST) is the second most common ovarian germ cell tumour and usually presents in children and young women. However, tumours rarely occur as malignant gynaecological tumours with YST components.
CASE PRESENTATION
We present one case of endometrioid carcinoma and clear cell carcinoma with YST components and two other cases of YSTs associated with high-grade serous carcinoma of the ovary in females. After surgery and adjuvant chemotherapy, the patient with endometrioid carcinoma had progressive disease and died 20 months later, and the other two were still alive at the last follow-up.
CONCLUSIONS
To our knowledge, these mixed neoplasm associations are unusual, and these cases illustrate the diagnosis and prognosis of YST associated with malignant gynaecological tumours, emphasizing early recognition and aggressive treatment.
Topics: Female; Humans; Adenocarcinoma, Clear Cell; Carcinoma, Endometrioid; Endodermal Sinus Tumor; Genital Neoplasms, Female; Ovarian Neoplasms
PubMed: 37391759
DOI: 10.1186/s12905-023-02495-w -
BMC Women's Health Jun 2023Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial...
BACKGROUND
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial cancer after yolk sac tumor with LFS.
CASE PRESENTATION
The presented female patient underwent right adnexectomy at age 23 because of a yolk sac tumor of the ovary. At the age of 27, the patient was diagnosed with endometrial adenocarcinoma, received cytoreductive surgery and chemotherapy. Given that her personal cancer history along with a strong family history of cancer, her father passing away from lung cancer at age 48 and her grandmother dying of ovarian cancer at age 50, the patient was referred for genetic counseling and testing. Genetic screening revealed a heterozygous pathogenic TP53 c.844C > T, p.( R282 W) with NM_000546.5 variant, a class 5 (C5) variant. This is the first reported case of a yolk sac tumor accompanied by subsequent endometrial cancer that is associated with LFS.
CONCLUSIONS
We reported a first case of an endometrial cancer after yolk sac tumor patient with a tumor family history of harboring the germline TP53 pathogenic variation which expanded types of tumor that can be presented in patients with LFS. This case highlights the importance of genetic testing for patients with malignant tumors, as well as patients with a family history of malignant tumors. And our case highlights the necessity of screening for gynecologic tumor in LFS patients.
Topics: Female; Humans; Young Adult; Adult; Middle Aged; Li-Fraumeni Syndrome; Genes, p53; Endodermal Sinus Tumor; Endometrial Neoplasms; Germ-Line Mutation; Genetic Predisposition to Disease
PubMed: 37344881
DOI: 10.1186/s12905-023-02426-9 -
Neurology India 2023Endodermal sinus tumor (EST) occurs most frequently in the gonads and is relatively rare in other sites, particularly in the spinal cavity. We report a 19-year-old woman... (Review)
Review
Endodermal sinus tumor (EST) occurs most frequently in the gonads and is relatively rare in other sites, particularly in the spinal cavity. We report a 19-year-old woman who presented with back pain and weakness of both lower extremities who was found to have an EST in the spinal canal cavity. She had severely elevated serum alpha-fetoprotein (AFP) level at presentation. Magnetic resonance imaging (MRI) revealed the mass in the spinal canal. The tumor was excised. Serum AFP returned to normal after three cycles of chemotherapy. We describe the imaging findings and the macroscopic and microscopic features of this rare tumor. EST is a relatively rare malignant germ cell tumor that usually originates in the gonads and has poor prognosis. This is a rare case of the primary EST in the spinal canal. Radiologists need to be aware of the MRI appearance of extragonadal EST.
Topics: Female; Humans; Young Adult; Adult; Endodermal Sinus Tumor; alpha-Fetoproteins
PubMed: 37322756
DOI: 10.4103/0028-3886.378678