Yolk sac tumor of the liver in an infant: A case report.

Yolk sac tumors can occur in various extragonadal sites, including the hepatobiliary tract, and are often associated with elevated serum alpha-fetoprotein. We report the case of a 14-month-old male infant presenting with abdominal pain and distension. Ultrasound and computed tomography scans of the abdomen revealed contiguous hepatic masses with lobulated contours, containing areas of necrosis. The patient underwent surgical resection, and histological studies confirmed the diagnosis of a yolk sac tumor. The occurrence of a yolk sac tumor in the liver is extremely rare. Ultrasound and cross-sectional imaging can be highly effective in diagnosing these tumors when combined with biopsy procedures to confirm the diagnosis. Although rare, yolk sac tumors of the liver should be considered a differential diagnosis for hepatic masses.

Giant ovarian yolk sac tumor during late pregnancy: a case report and literature review.

The manifestation of a giant ovarian yolk sac tumor during late pregnancy is relatively rare. A yolk sac tumor is a highly malignant germ cell tumor that originates from primitive germ cells. It is characterized by yolk sac differentiation in vitro. The frequency of prenatal examinations should be appropriately increased for ovarian tumors discovered during pregnancy. Furthermore, regular follow-up ultrasound should be performed, and tumor markers should be dynamically detected. If needed, imaging examinations such as computed tomography and magnetic resonance imaging should be combined to comprehensively investigate disease progression. If the tumor diameter and tumor marker levels rapidly increase during pregnancy, the possibility of malignancy increases. Therefore, exploratory laparotomy should be immediately performed to further improve subsequent treatment modalities, early diagnosis, early treatment, and prognosis. Herein, we report the case of a 28-year-old pregnant woman whose pregnancy was terminated at 29 weeks and 5 days. She complained of lower abdominal pain for 2 days. A pelvic mass was detected for 1 week, accompanied by increased levels of tumor markers such as serum alpha-fetoprotein, cancer antigen 125, carbohydrate antigen 724, and human epididymis protein 4. Imaging revealed the presence of a pelvic mass. At 32 weeks and 3 days of pregnancy, a cesarean section was performed, with a transverse incision in the lower uterine segment. Furthermore, pelvic adhesiolysis, omentectomy, right adnexectomy, right pelvic lymph node dissection, and pelvic metastasis peritonectomy were performed. The postoperative pathological diagnosis was yolk sac tumors of the ovary (stage IIB). Postoperatively, a five-cycle chemotherapy regimen comprising bleomycin, etoposide, and cisplatin was administered. During postoperative follow-up, the patient's general condition was noted to be good, with the newborn and pregnant women ultimately achieving good outcomes. We reviewed the relevant literature to increase clinical doctors' understanding of ovarian malignancy during pregnancy, guide treatment selection, and facilitate early intervention for associated diseases.

Subtle Presentation of Two Rare Gynecological Cancers in a Single Patient: A Case Report.

Yolk sac tumors (YSTs) are rare germ-cell malignancies that usually develop in the gonads. Similarly, gastric-type adenocarcinoma of the endocervix (GAS) is a rare kind of gynecological cancer that has piqued interest due to its distinctive clinical and pathological features. These two malignancies in a single patient present a unique and challenging scenario. Here, we present the case of a 33-year-old female who presented with postcoital bleeding and was diagnosed with atypical glandular proliferation consistent with GAS. Interestingly, this patient had a history of a YST treated with left salpingo-oophorectomy and chemoradiation in the Philippines five years prior. A follow-up ultrasound report in the Philippines five months after treatment showed no evidence of residual disease. This case report aims to understand the predisposing factors of these neoplasms and asks if there is a link between them, which is necessary for tailoring surveillance, appropriate therapeutic approaches, and improving patient outcomes.

Primary yolk sac tumor of the endometrium combined with situs inversus totalis: a case report and literature review.

BACKGROUND: Yolk sac tumor (YST) is a highly malignant germ cell tumor, a majority of which originate from the gonads and are extremely rare from endometrium. CASE PRESENTATION: Here we present a case of a 42-year-old woman suffered from primary pure yolk sac tumor of the endometrium complicated with situs inversus totalis. The patient presented at our hospital with irregular vaginal bleeding. Imageological examination showed a space-occupying lesion in the cervix and the serum Alpha-fetoprotein (AFP) level was significantly high (more than 1210ng/ml). Then she underwent total hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection. The subsequent postoperative pathological diagnosis was yolk sac tumor arising from the endometrium. Next, the patient was treated with 6 cycles of chemotherapy with Pingyangmycin, etoposide and cisplatin regimen and was alive without evidence of recurrence or distant metastases for 13 months. CONCLUSIONS: This rare disease needs to be differentiated from endometrial epithelial neoplasia and the significant increase in AFP is helpful for diagnosis. Combined with previous literature reports, comprehensive staging laparotomy or maximum cytoreductive surgery complemented by standard chemotherapy can usually achieve a good efficacy.

Case report: Ovarian steroid cell tumor with CA72-4 elevated.

Ovarian steroid cell tumor, not otherwise specified (SCT-NOS), is a rare subtype of sex cord-stromal tumor, characterized by hirsutism and virilization. There are, however, few tumor markers reported in the tumor. The following is a case report. Six years ago, the patient underwent a left adnexectomy after being diagnosed with a yolk sac tumor. Her serum CA72-4 levels were significantly elevated when she was diagnosed with SCT-NOS. She suffered from hirsutism and oligomenorrhea with long menstrual cycles. SCT-NOS was confirmed by her histopathological examination. When the tumor was diagnosed, serum CA72-4 levels were elevated. Following tumor resection, serum CA72-4 levels returned to the average reference interval. Whole-exome sequencing (WES) was utilized to identify ten mutations in MKI67, TICAM1, CHD3, ARID5B, ERBB4, POLD1, FZR1, MTCP1, TBX3, and CLTC genes.

Characterization of testicular embryonic-type neuroectodermal tumor and embryonic-type neuroectodermal tissue admixed with mature neuro-glial tissue using a broad immunohistochemical panel.

Embryonic-type neuroectodermal tumor (ENT) is a somatic-type malignancy characterized by overgrowth of embryonic-type neuroectodermal tissue (EtNT). In germ cell tumors, EtNT is frequently intermingled with other components that may exhibit significant morphologic overlap [mature neuro-glial tissue (MNGT), nephroblastomatous tissues, and primitive endodermal-type glands]. Therefore, the quantification of EtNT (crucial for the diagnosis of ENT) can be challenging. In this study, we investigated the immunohistochemical profile of ENT, EtNT, and MNGT using a broad immunohistochemical panel. We found that SOX2 was the most sensitive marker for EtNT (100%), but it also stained MNGT (28.6%). GFAP and S100 were relatively sensitive (71.4%) and highly specific (GFAP 100%, S100 85.8%) for MNGT, whereas synaptophysin stained both. Combining our results with those of previous studies, we propose that a combination of SOX11, SOX2, GFAP, S100, AFP, villin, CDX2, PAX8, and nuclear WT1 may help to identify and quantify EtNT in germ cell tumors.

Mimicking Metastasis: Endobronchial Tuberculosis Presenting as a Mass in a Pediatric Patient With Yolk Sac Tumor.

Before the advent of an effective antitubercular treatment for tuberculosis and bronchoscopy, endobronchial tuberculosis (EBTB) often greatly contributed to airway stenosis and lung atelectasis in children. Even after the advent of efficacious therapy, EBTB poses major challenges for pediatric patients, manifesting as airway stenosis or obstruction. We report a case of a two-year-old male with a previous history of yolk sac testicular tumor whose follow-up PET-CT scan showed right middle lobe collapse. Flexible bronchoscopy demonstrated endobronchial mass, and biopsy revealed EBTB, excluding metastasis. This case illustrates varied presentations of tuberculosis and highlights the significance of early diagnosis with bronchoscopy in treating this condition before it can lead to severe complications. Antitubercular therapy must be initiated at the earliest when managing EBTB. The follow-up procedures must be diligent, and timely interventions should be made for optimal patient outcomes despite the availability of improved diagnostic techniques and treatment methods.

Ultrasonographic and clinicopathological features of pelvic yolk sac tumors in women: a single-center retrospective analysis.

Objectives: Yolk sac tumors (YSTs) are rare and highly malignant ovarian malignancies that have a very poor prognosis. The aim of this study is to delineate the ultrasound and clinicopathological features of female pelvic YSTs to better understand the disease. Methods: This study was a retrospective analysis of the clinicopathological and ultrasound imaging data from 16 YST patients who received treatment at our hospital between January 2012 and August 2023. Then, the ultrasound imaging characteristics were compared with pathological findings. Results: Among the 16 patients, various degrees of serum AFP increase were observed, and CA125 levels increased in 58.33% (7 out of 12) of patients. Thirteen patients (81.25%) had tumors located in ovary, two patients (12.5%) had tumors located in the sacrococcygeal region, and one patient (6.25%) had tumors located in the mesentery. Pathologically, nine patients presented with simple yolk sac tumors and seven with mixed germ cell tumors. According to the ultrasound manifestations, YST lesions can be classified into three types. (1) the cystic type, was diagnosed in two patients who presented with a large cystic mass with regular morphology and clear boundary and dense liquid within the cyst; and (2) the cystic-solid mixed type, was diagnosed in 4 patients. On 2D ultrasound, the lesions showed a cystic-solid mixed echo, and color Doppler showed a rich blood flow signal in the solid region and cystic separation. made up of four cases. (3) In ten patients with the solid type, 2D ultrasound showed solid uniform echoes with clear boundaries. The "fissure sign" was observed in the lesion. Color Doppler displayed rich blood flow in the solid part, and PW showed low to moderate resistance index of artery (RI:0.21-0.63). On contrast-enhanced ultrasound (CEUS), rapid and high enhancement in the solid part and cystic separation was observed in 2 patients. Conclusions: Combining ultrasound features with clinical information and tumor markers provides reliable clues for the diagnosis of YST. The application of two-dimensional ultrasound and CEUS combined with patient tumor marker levels can provide a robust reference for determining the necessity of fertility-preserving surgery and postoperative chemotherapy, which can improve clinical decision-making and patient consultation.

Impact of microscopic deposits of yolk sac tumor on recurrence of mature sacrococcygeal teratoma.

INTRODUCTION: Sacrococcygeal teratomas (SCT) with malignant histology frequently recur and are treated aggressively, but risk factors and surveillance protocols are less established for mature tumors. In particular, prior studies have not investigated whether microscopic deposits of yolk sac tumor (YST) in otherwise mature teratomas lead to higher recurrence rates. METHODS: We reviewed patients with mature SCTs resected at our institution from 2011 to 2021 and analyzed tumor characteristics, treatment, and outcomes. RESULTS: We identified 56 patients with mature SCT, of which 9 (16%) demonstrated microscopic YST. Following surgery, 7/56 (13%) patients developed local recurrence at a mean of 1.2 ± 0.7 years, while no patients developed metastases. Recurrence was more likely in patients with microscopic YST [5/9 (56%) vs. 2/47 (4%), p = 0.021] and positive margins [6/24 (35%) vs. 1/32 (3.1%), p = 0.030]. A solid tumor component tended to increase recurrence risk as well [6/29 (21%) vs. 1/27 (4%), p = 0.053]. Five patients demonstrated malignant recurrence and were all detected by a rising alpha-fetoprotein (AFP), while two patients demonstrated recurrence of mature teratoma and were detected on surveillance magnetic resonance imaging (MRI). CONCLUSIONS: Microscopic foci of YST may increase recurrence risk for patients with mature SCT. Such patients might benefit from closer postoperative surveillance with serial AFP measurements and MRI.

Half-life of serum alpha-fetoprotein in prepubertal testicular yolk sac tumors: an index significantly associated with prognosis.

PURPOSE: To evaluate the association between serum alpha-fetoprotein (AFP) half-life (HL) and prognosis in prepubertal children with elevated AFP values 3 to 4 weeks after surgery for testicular yolk sac tumors (YST). METHODS: Prepubertal patients with testicular YST treated with radical orchiectomy between January 2016 and December 2022 were retrospectively reviewed. Negative outcomes were defined as relapse, metastasis or death. Univariate and multivariate logistic regression analyses were conducted to select risk factors for negative outcomes. RESULTS: A total of 42 patients were eventually enrolled into the study. Patients were divided into non-negative and negative outcomes groups, consisting of 35 and 7 patients, respectively. Thirty-five patients were stage I, two cases were stage II, and five cases were stage IV, according to the Children's Oncology Group staging system. The overall survival (OS) rate was 100%. Average AFP values significantly decreased after resection (P < 0.001). A significant positive correlation was shown between pre- and postoperative AFP values (r = 0.60, P < 0.001). Long AFP HL was considered as an independent risk factor for negative outcomes in YST patients underwent radical orchiectomy (P = 0.04). The cut-off value for AFP HL was 5.78 days, regardless of age division. CONCLUSION: Testicular YST is a relatively rare disease in children with an OS of 100%, and salvage chemotherapy is effective even in grade IV patients. The postoperative AFP HL was significantly associated with prognosis in prepubertal patients with testicular YST. The cut-off value for AFP HL is 5.78 days regardless of the effect of physiological AFP elevation.

Germ Cell Tumor of the Testis: Lethal Subtypes of a Curable Cancer.

Germ cell tumor of the testis (GCT) is a curable cancer even when it is widely metastatic; however, outcomes can differ based on tumor histology. Chemo-resistance in certain phenotypes, such as teratoma and yolk sac tumor, contributes to poor clinical outcomes in some patients with GCT. Despite this resistance to S-YSTemic therapy, many of these tumor subtypes remain amenable to surgical resection and possible cure. In this study, we report on a series of seven patients highlighting two chemo-resistant subtypes of nonseminomatous germ cell tumor (NSGCT), sarcomatoid yolk sac tumor (S-YST), and epithelioid trophoblastic tumor (ETT) for which early resection rather than additional salvage chemotherapy or high-dose intense chemotherapy might provide a superior clinical outcome and enhance cure rate.

Variations in germ cell tumor histology by age and implications for cancer-specific survival among pediatric and adult males: A population-based study.

PURPOSE: Few studies have quantified differences in histology and implications for survival between male children and adults with germ cell tumors (GCT). We evaluated these differences and associations with cancer-specific survival (CSS) using Surveillance, Epidemiology, and End Results (SEER) cancer registries. METHODS: SEER (1988-2016) was used to identify male patients 0 to 40 years of age diagnosed with seminoma and nonseminomatous GCT (NSGCT). Demographic and tumor characteristics were tabulated with histology distributions compared by age group (0-4, 12-18, 19-40 years old). CSS was evaluated in multivariable Cox proportional hazards regression models. RESULTS: Among 27,204 patients identified, 1,538 (5.7%) were pediatric (0-18 years). Seminoma (54.3%) predominated in adult patients (ages 19-40). Among 0 to 4 years-old, yolk sac tumor (71.2%) and teratoma (21.5%) were most common. Mixed GCT (52.7%) was most prevalent among 12 to 18 years-old with seminoma, embryonal, and teratoma occurring in 12 to 15% each. Relative to pediatric patients, adult patients had similar CSS for seminoma but worse CSS for NSGCT on Kaplan-Meier curves with 9 years mean follow-up. Choriocarcinoma and yolk sac tumors carried the worst prognosis relative to seminoma for both children (HR 5.7 and HR 11.1, respectively, both P < 0.01) and adults (HR 4.6 and HR 4.6, respectively, both P < 0.01) adjusted for stage. CONCLUSION: Histology of GCTs vary by age with yolk sac tumors and teratoma predominating for male patients 0 to 4 years, mixed GCT for 12 to 18 years, and seminoma for 19 to 40 years. Pediatric patients with NSGCT had higher CSS than their adult counterparts. Mixed GCT represented an increasing proportion of GCT over the study period. Age, stage, and histology impact CSS in both pediatric and adult populations.

Extragonadal germ cell tumors: A clinicopathologic study with emphasis on molecular features, clinical outcomes and associated secondary malignancies.

Extragonadal germ cell tumors (EGCTs) are rare, representing <5% of all germ cell tumors (GCTs). Whilst EGCTs share morphological and immunohistochemical features with their gonadal counterparts, they tend to be more aggressive and are frequently associated with secondary somatic malignancies. The aim of our study was to evaluate the clinical, morphological and immunohistochemical features, and to analyze tumors for chromosomal abnormalities of 12p, in addition to any novel genetic alterations, in a series of EGCTs. Seventy-seven EGCTs were included. Anterior mediastinum was the most common anatomic site, followed by central nervous system, retroperitoneum, sacroccygeal area, and neck. Whole genome SNP array identified isochromosome 12p in 26% of tumors. Additional cytogenetic abnormalities included the presence of gain of chr 21 in 37% of tumors. Somatic-type malignancies were identified in 8% of patients. Disease progression (metastasis and/or recurrence) was documented in 8 patients, most of whom died from their relapse. Three patients who died of disease had somatic-type malignancies. Mediastinal seminomas had a significantly better overall survival when compared to mediastinal non-seminomatous GCTs. Our study demonstrates that EGCTs share similar histologic features, but diverse clinical outcomes compared to their gonadal counterparts. Outcomes vary according to anatomic location and histologic subtypes. Our data corroborate that somatic-type malignancies are frequently encountered in mediastinal EGCTs and that their presence portends a poorer prognosis.

Beta-Catenin Alterations in Postchemotherapy Yolk Sac Tumor, Postpubertal-Type With Enteroblastic Features.

Postchemotherapy postpubertal-type yolk sac tumors (YST) with glandular and solid phenotypes are aggressive and commonly resistant to systemic chemotherapy. These neoplasms show morphologic features that significantly overlap with those of somatic carcinomas with "enteroblastic" or "fetal" phenotype (the preferred terminology depends on the site of origin). They often present as late or very late recurrences, and their diagnosis is challenging because they frequently affect patients in an age group at risk for carcinomas of somatic origin. Recently, we incidentally identified examples of postchemotherapy glandular and solid YST with "enteroblastic" phenotypes and nuclear expression of beta-catenin, prompting us to further evaluate the prevalence of this phenomenon. We found nuclear expression of beta-catenin in 10 (29%) of 34 such tumors. A subset of cases with nuclear beta-catenin expression was further analyzed with a DNA sequencing panel (n = 6) and fluorescence in situ hybridization for isochromosome 12p [i(12p); n = 5]. Sequencing identified exon 3 CTNNB1 variants in 3 (50%) of 6 analyzed cases, and fluorescence in situ hybridization was positive for i(12p) in 5 of 5 cases. In conclusion, a significant subset of postchemotherapy YST with glandular or solid architecture and "enteroblastic" phenotype demonstrates beta-catenin alterations, suggesting that activation of Wnt signaling may play a role in the progression of these neoplasms. Moreover, nuclear beta-catenin expression in these tumors represents a potential diagnostic pitfall given that carcinomas of true somatic origin with overlapping morphology may also be positive for this marker.

Prognostic factors of 87 ovarian yolk sac tumor (OYST) patients and molecular characteristics of persistent and recurrent OYST.

OBJECTIVE: We aimed to explore the characteristics of OYST, particularly for persistent and recurrent OYST, in order to explore potential treatment options and thereby improve patient outcomes. METHODS: We retrospectively reviewed the clinical records of all patients with OYST at Fudan university Shanghai Cancer Center from December 3, 2005 to November 27, 2020. Furthermore, and performed whole-exome sequencing on 17 paired OYST (including 8 paired persistent and recurrent OYST) tumor and blood samples to elucidate the aberrant molecular features. RESULTS: Totally, 87 OYST patients were included between 2007/03/13 and 2020/11/17. With a median follow-up of 73 [3-189] months, 22 patients relapsed or disease persisted. Overall, 17 patients died with a median overall survival of 21 [3-54] months. Univariate and multivariate analysis revealed tumor histology and residual lesions were independently associated with event free survival and overall survival, cycles to AFP normalization were another independent risk factor for overall survival. For the 8 persistent and recurrent OYST: cancer driver genes including ANKRD36, ANKRD62, DNAH8, MUC5B, NUP205, RYR2, STARD9, MUC16, TTN, ARID1A and PIK3CA were frequently mutated; cell cycle, ABC transporters, HR, NHEJ and AMPK signal pathway demonstrated as the most significantly enriched pathways; TMB, DNA MMR gene mutation and MSI were significantly higher. Mutation signature 11, 19 and 30 were the dominant contributors in persistent and recurrent OYST mutation. CONCLUSION: Persistent and recurrent OYST associated with poor prognosis, and probably susceptible to immune checkpoint blockade therapy. Molecular characteristics contributed to predict the persistence and recurrence of OYST.

Ovarian Germ Cell Tumors in North-Western India: A Comprehensive 3-Year Retrospective Study of 145 Cases at a Tertiary Cancer Hospital.

Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These tumors encompass a range of benign and malignant entities. While global trends provide insights into their prevalence, specific regional variations, such as those within North-Western India, remain less explored. This study seeks to bridge this knowledge gap by examining the prevalence and characteristics of germ cell tumors within a tertiary cancer hospital. In this retrospective analysis, all cases of germ cell tumors diagnosed over a 3-year period in the specified tertiary cancer hospital were included. Cases with incomplete records or inadequate pathological data were excluded. Data encompassing histological subtypes, patient age distribution, clinical presentations, and histopathological features were collected and analyzed. The study comprised 145 cases of germ cell tumors. Teratomas were the most prevalent subtype, with mature teratomas accounting for the majority. The highest incidence occurred within the 21-30-year age group with a mean age of 24.77 years. Abdominal mass (56%) and abdominal pain (34%) were the prominent clinical presentations. Benign cases constituted the majority 85.5%. Solid tumors (p < 0.00001) and tumors more than 10 cm (p .029028) were found to have a high propensity to be malignant, which was proven to be statistically significant. This study comprehensively explains germ cell tumors' prevalence, clinical features, and histopathological subtypes in a tertiary cancer hospital in North-Western India. The predominance of teratomas, particularly mature ones, aligns with global trends. The age distribution and clinical presentations reflect common patterns. The diverse histopathological appearances underscore the heterogeneous nature of germ cell tumors. This study offers valuable insights for clinical management and further regional research.

18F-DGPET/CT Imaging of Ovarian Yolk Sac Tumor in a Woman after Induction of Labor: A Case Report.

Introduction: Ovarian yolk sac tumor (OYST) during pregnancy is rare and usually missed. There are few PET/CT studies on OYST in the literature. We reported a case of OYST detected by 18F-FDG PET/CT in a woman after induction of labor. Case Presentation: A 19-year-old woman after induction of labor because of severe malformation presented with abdominopelvic mass, laboratory tests revealed significantly elevated serum alpha-fetoprotein (AFP) level and elevated carbohydrate antigen 125 level. Abdomino-pelvic CT showed a cysticsolid mass of 82×152×167mm arising from the right ovary with abundant intratumoral vessels and intense enhancement in the solid part. Further evaluation of 18F-FDG PET/CT imaging showed significantly increased 18FDG uptake (SUVmax7.7) by the solid component of the ovarian mass and slight 18FDG-avid perihepatic effusion. The mass was resected and was confirmed to be the right OYST, After four courses of chemotherapy, the patient was followed up by PET/CT and had a complete metabolic response. Discussion: 18F-FDG PET/CT is a useful imaging modality for diagnosis and evaluation of OYST.

Extensive surgical resections for rare pleural neoplasms: a single-center experience with a yolk sac tumor and synovial sarcoma.

BACKGROUND: Pleural neoplasms are rare and can be subdivided into pleural metastasis and primary pleural neoplasms. Non-mesothelioma primary pleural neoplasms are a diverse group of extremely rare pathologies. CASE PRESENTATION: In this case series, we describe the presentation and management of two rare primary pleural neoplasms. A first case describes a primary pleural yolk sac tumor treated with neoadjuvant chemotherapy, extended pleurectomy decortication, and hyperthermic intrathoracic chemotherapy. In a second case we describe the management of a primary pleural synovial sarcoma by neoadjuvant chemotherapy and extrapleural pneumonectomy. A complete resection was obtained in both cases and the post-operative course was uncomplicated. No signs of tumor recurrence were noted during follow-up in the first patient. In the second patient a local recurrence was diagnosed 6 months after surgery. CONCLUSION: Neo-adjuvant chemotherapy followed by extensive thoracic surgery, including hyperthermic intrathoracic chemotherapy, is a feasible treatment strategy for non-mesothelioma primary pleural neoplasms, but careful follow-up is required.