Yolk Sac Tumor Research Articles

Pediatric Extracranial Germ Cell Tumors: Expression of microRNA.

Germ cell tumors (GCTs) may occur from the neonatal period to late adulthood, characterized by extensive clinical and pathologic heterogeneity. MicroRNAs are a family of small noncoding RNAs that regulate a wide array of biological processes including carcinogenesis. MicroRNAs may be used for many purposes in clinical diagnostics. Numerous studies have proven the diagnostic value of microRNA371-373 and microRNA302/367 expression in malignant GCT. The diagnostic value of microRNA375 is disputable, because while its value is confirmed by some research data, there are still others denying it. The results of our own research on the relative expression of 10 microRNAs, including microRNA375, associated with GCT in the tumor tissues of 84 children and adolescents are presented. In our research, overexpression of microRNA 371-373, 302/367 detected in the group of malignant GCT subtypes. Statistically significant expression of microRNA375 have been defined not only in the group of malignant GCT subtypes, but also in the group of immature teratomas. Among malignant GCTs, high expression of microRNA375 is specific for yolk sac tumors. In the group of seminomas, embryonic carcinomas, and mature teratomas expression of microRNA375 was observed imperceptible, even so the results were statistically insignificant. Expression of microRNA 371-373, 302/367 is representative of malignant GCT subtypes. Statistically significant and high expression of microRNA375 attributable for yolk sac tumors and immature teratomas.

Villin expression in human tumours: a tissue microarray study on 14,398 tumours

Background Villin is a protein of the brush border of epithelial cells which is used as an immunohistochemical marker for colorectal and gastrointestinal neoplasms. However, other tumor entities can also express villin. Methods To comprehensively determine villin expression, tissue microarrays containing 14,398 samples from 118 different tumor types as well as 608 samples of 76 different normal tissues were analyzed by immunohistochemistry. Results Villin was found in 54 of 118 tumor categories, including 36 tumor categories with strong staining. Villin expression was frequent in colorectal, upper gastrointestinal tract, pancreatobiliary, and renal tumors as well as in mucinous ovarian cancers, yolk sac tumors and in neuroendocrine neoplasms. Reduced villin expression was linked to advanced pT stage, lymph vessel invasion and microsatellite instability (p≤0.0006) in colorectal adenocarcinoma. In summary, our data demonstrate that villin expression is most common in gastrointestinal, pancreatobiliary, and neuroendocrine neoplasms, yolk sac tumors and mucinous ovarian cancers. Conclusion Our data support a high utility of villin immunohistochemistry for the identification of tumors with gastrointestinal, pancreatobiliary, and yolk sac tumor origin. However, considering that at least a weak villin positivity in some tumor cells occurred in 54 different tumor categories, villin immunohistochemistry should be applied as a part of a marker panel rather than as a stand-alone marker.

GCT-07. Central nervous system germ cell tumors of children in Slovakia from 2000 to 2020

Abstract INTRODUCTION: Central nervous system germ cell tumors (CNS GCTs) are very heterogenous group of tumors, which are divided into two main subgroups - germinomas and non- germinomatous germ cell tumors (NGGCTs). NGGCTs consist of embryonal carcinomas, yolk sac tumors, choriocarcinomas, and teratomas - mature, immature, or with malignant transformation, as well as mixed types. CNS GCTs are rare tumors, accounting approximately for 4-5% of all brain tumors in children, with a peak of incidence between the ages of 10 and 15 years, affecting predominantly boys. METHODS: Retrospective study of a cohort of 34 patients, age 0-18 years old, with CNS germ cell tumors diagnosed and treated in one of three Slovak pediatric oncology centers over a 21-year period from 01/2000 to 12/2020. Treatment was done according to the SIOP strategy. RESULTS: Out of 34 patients 15 patients were treated in the largest center, in Bratislava and 19 patients in the remaining 2 centers. Germinomas occurred in 16 (47.1%) and non-germinomatous germ cell tumors in 18 (52.9%) patients, 7 of whom had teratomas. In our cohort, 24 patients (70.6%) survived with an average follow-up age of 8.5 years. Twenty two patients remain in the 1st remission of the disease, 2 patients got through after disease recurrence. Ten patients (29.4%) died, 9 patients due to disease progression and 1 patient due to treatment complications. CONCLUSION: The overall survival of children with CNS GCT is most dependent on the histologic subtype of the tumor. Overall survival in children with germinomas reaches 90% and with NGGCTs around 60-70%, depending on the extent of the disease. In our cohort, we have achieved 70.6% 5 year overall survival of patients.

Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review

BackgroundYolk sac tumor or endodermal sinus tumor is an uncommon malignant germ cell neoplasm. This tumor usually presents in childhood or young adulthood as a testicular or ovarian mass. Extragonadal sites such as mediastinal, intracranial, and sacrococcygeal have been described. A review of the literature revealed limited related cases. The clinical presentation, radiographic characteristics, operative findings, and patient outcomes are discussed.Case presentationWe report the occurrence of a primary paraspinal germ cell tumor in a 28-month-old boy who presented with thoracic spinal cord compression. The patient presented with pain, weakness, paraplegia, and bowel and bladder disturbances.MRI was done and showed a retroperitoneal and paravertebral mass invading the left diaphragmatic crus, the lateral neural foramen, and the posterior paravertebral muscles. Morphologic and immunohistochemical features were consistent with a germ cell tumor, namely an endodermal sinus tumor (yolk sac) of the epidural area. The final diagnosis was determined to be stage IV extragonadal germ cell tumor. The patient underwent emergency surgery consisting of T10–12 laminectomy and epidural mass resection with the release of the spinal cord compression and received chemotherapy consisting of cisplatin, bleomycin, and etoposide. After six cycles of chemotherapy, follow-up MRI showed complete resolution of the tumor. The patient has been in complete remission 16 years from his initial diagnosis. He still, however, has mild residual weakness in both lower extremities and some detrusor-sphincter dyssynergia.ConclusionExtragonadal germ cell tumors presenting with spinal cord compression are rare; however, they should be included in the differential diagnosis of every child younger than 3 years old who does not present with the typical features. Germ cell tumors are sensitive to platinum-based chemotherapy, and surgery should only be performed for spinal cord compression and for obtaining tissue biopsy for a definitive diagnosis. The sooner the decompression is done, the better neurological outcome is achieved. Long-term remission, and possibly cure, can be achieved with a multidisciplinary treatment strategy.

088 Mullerian anomaly as incidental finding in a neonate with vaginal bleeding

Objective: Overt vaginal bleeding in newborns occurs in up to 11% of patients secondary to effects of hormone exposure present in utero [ [1] Söderström H.F. Carlsson A. Börjesson A. Elfving M. Vaginal bleeding in prepubertal girls: etiology and clinical management. J Pediatr Adolesc Gynecol. 2016; 29: 280-285 Abstract Full Text Full Text PDF PubMed Scopus (23) Google Scholar ]. Designated as “mini menses”, presentation includes blood-tinged vaginal discharge in the first ten days of life. While “mini-menses” are physiologic, heavier or persistent bleeding has been described in underlying vascular and vaginal anomalies, as well as rare tumors [ 2 Handel L.N. Scott S.M. Giller R.H. Greffe B.S. Lovell M.A. Koyle M.A. New perspectives on therapy for vaginal endodermal sinus tumors. J Urol. 2002; 168: 687-690 Crossref PubMed Scopus (28) Google Scholar , 3 Melcer Y. Smorgick N. Fuchs N. Vaknin Z. Lotan G. Pansky M. Vaginal müllerian cyst: an unusual cause of vaginal bleeding in a 16-month-old girl. J Pediatr Adolesc Gynecol. 2014; 27: e21-e22 Abstract Full Text Full Text PDF PubMed Scopus (3) Google Scholar , 4 Ganti A.K. Ray J. Mooney K.L. Zambrano E. Hillard P.J. Fok W. Unusual cause of pediatric vaginal bleeding: infantile capillary hemangioma of the cervix. J Pediatr Adolesc Gynecol. 2019; 32: 80-82 Abstract Full Text Full Text PDF PubMed Scopus (4) Google Scholar ]. To our knowledge, there are no reported cases of neonatal vaginal bleeding associated with uterus didelphys. We present a case of a neonate with atypical vaginal bleeding who was found to have a congenital uterine anomaly (CUA).

Clinicopathological Evaluation of Childhood Sacrococcygeal Germ Cell Tumors: A Single-Center Experience

ObjectiveWe aimed to evaluate the cases of sacrococcygeal germ cell tumors diagnosed in our hospital between 2006 and June 2021.Materials and MethodsWe evaluated 38 sacrococcygeal germ cell tumors cases in our series in terms of age, sex, clinical complaints, localization, macroscopy, tumor size, histopathological diagnosis, surgical, postoperative complications, treatment, recurrence, and prognosis.ResultsThe cases ranged from 1 day to 16 years of age; 14 cases were diagnosed with routine ultrasonographic examination during prenatal period while the rest of the cases most frequently presented with complaints of constipation. In terms of localization, 6 cases were type 1, 11 cases were type 2, 6 cases were type 3, and 15 cases were type 4. In the pathological evaluation, 25 cases were mature teratoma, 8 cases were immature teratoma, and 5 cases were pure yolk-sac tumor. In terms of complications, temporary colostomy was performed as a result of rupture during birth in 2 cases, disseminated intravascular coagulation at birth in 1 case, and colon injury in 2 cases. There was a recurrence in 2 of our cases. Thirty-seven of our cases were alive and 1 died. Alpha-fetoprotein level was high in 28 of our cases.ConclusionIn our series, type 4 cases were observed more frequently, contrary to the literature. We recommend to use a routine ultrasonography to patients who come to the clinic with complaints of constipation and inability to urinate and if a mass is detected, asking for alpha-fetoprotein for further follow-up. Sacrococcygeal germ cell tumors are ultimately a disease that can be successfully treated with multidisciplinary approach, accurate diagnosis in the antenatal and postnatal period, appropriate surgical intervention, and regular follow-up.

Clinicopathologic predictors of outcomes in children with stage I testicular germ cell tumors: A pooled post hoc analysis of trials from the Children's Oncology Group

Patients with clinical stage I (CS I: cN0M0) testicular germ cell tumors (TGCT) exhibit favorable oncologic outcomes. While prognostic features can help inform treatment in adults with CS I TGCT, we lack reliable means to predict relapse among pediatric and adolescent patients. We sought to identify predictors of relapse in children with CS I TGCT. We performed a pooled post hoc analysis on pediatric and adolescent AJCC CS I TGCT patients enrolled in 3 prospective trials: INT-0097 (phase II), INT-0106 (phase III), and AGCT0132 (phase III). Pathology was centrally reviewed. Patient demographics, pT stage, serum tumor markers, margin status, histology, relapse, and survival were compiled. Cox regression analyses were used to identify predictors of events, defined as relapse, secondary malignant neoplasm, or death. 106 patients were identified with outcomes data available. Most patients were pT1-2 stage. Among patients with evaluable histopathology, yolk sac tumor elements were present in all patients and lymphovascular invasion in 51% of patients. Over a median follow-up of 56 months, no patients died, and 25 patients (24%) experienced an event (median event-free survival not reached). Independent predictors of events on multivariable analysis included age ≥12 years at diagnosis (HR 8.87, p<0.001) and higher pT stage (pT2 HR 7.31, p=0.0017; pT3 HR 13.5, p=0.0043). Although our study population reflects the largest pooled prospective cohort of CS I pediatric and adolescent TGCT to our knowledge, the relatively low event rate limits our multivariable analysis, and longer follow-up duration would help further characterize the natural history of these patients. Centralized pathologic review was also unable to be performed for several patients. Pediatric and adolescent CS I TGCT patients exhibit remarkable 5-year survival. Using combined data from multiple prospective trials, our study identifies clinicopathologic features that predict relapse and inform personalized treatment for these patients by potentially guiding surveillance versus adjuvant treatment strategies.

Mucinous Proliferations of the Uterine Corpus: Comprehensive Appraisal of an Evolving Spectrum of Neoplasms.

A variety of endometrial lesions may contain mucinous cells. Herein, the author reviews the literature on the classification and clinicopathologic significance of uterine corpus proliferations with a significant mucinous component, assesses the 2020 World Health Organization classification of such lesions, and presents a diagnostic framework. The key epithelial mucinous lesions include mucinous metaplasia, atypical mucinous glandular proliferation and mucinous carcinoma. Each of these categories are classifiable into "usual" and gastrointestinal subtypes, the latter being indicative of intestinal (presence of goblet cells) and/or gastric-type (abundant, pale eosinophilic or clear cytoplasm and well-defined cell borders) morphology. It has been proposed that at least focal expression of gastrointestinal immunohistochemical markers be required for all gastrointestinal type lesions, and for gastrointestinal type atypical mucinous glandular proliferation and carcinoma, minimality or absence of estrogen receptor expression, and the absence of an endometrioid component. Mucinous carcinomas of the usual type, in which >50% of the tumor is comprised of a mucinous component, are the most common. Morphologic subtypes include mucinous carcinoma with microglandular features and mucinous carcinoma with signet rings (signet ring carcinoma). Endometrioid carcinomas with a less than a 50% mucinous component are classified as endometrioid carcinoma with mucinous differentiation. Several studies have directly compared endometrioid and mucinous carcinomas, the latter presumably of the usual type, with respect to patient outcomes after treatment. All have found no difference in overall and disease free survival between these groups. However, three major studies have found mucinous carcinomas to be associated with a higher risk of lymph node metastases. Nineteen cases of mucinous carcinoma of the gastrointestinal type have been reported, and the limited data on their follow-up after primary treatment suggests that this subtype is more clinically aggressive and should accordingly be classified separately from mucinous carcinomas of the usual type. The morphologic spectrum of mucinous carcinoma of the gastrointestinal type is unclear and continues to evolve. Mucinous change, which may sometimes be extensive, may also be associated with papillary proliferation of the endometrium, adenomyoma of the endocervical type, atypical, and typical adenomyomas. In a curettage or biopsy, intestinal type mucinous epithelium may be indicative of any of the gastrointestinal lesions mentioned above, but may also represent samplings of uterine teratomas, yolk sac tumors, genital and extragenital adenocarcinomas with intestinal differentiation, or low-grade appendiceal mucinous neoplasms that secondarily involve the endometrium.

Impact of Optimal Therapy and Prognostic Factors in Malignant Germ Cell Tumors of Ovary: 20 Years' Institutional Experience.

The objective of this study is to analyze the impact of clinicopathological and treatment-related factors on survival in patients with malignant ovarian germ cell tumor. A total of 253 patients of ovarian germ cell malignancy were retrospectively reviewed during 2000-2019. Out of these, 111 had primary treatment at our institute, which is a dedicated regional cancer center. The remaining 142 were operated elsewhere and were referred to us for adjuvant chemotherapy or with recurrent disease. The clinicopathological and treatment-related characteristics were analyzed for association with tumor persistence/recurrence or death. Among them, 107 were dysgerminomas; 60 had endodermal sinus tumor, 53 mixed germ cell tumors, and 31 immature teratoma; and one each had embryoma and primitive germ cell tumor. The median follow-up period was 19months (range 0-214). Median time to recurrence or progression was 5months. Forty-nine patients (19.4%) had a recurrence and there were 16 (6.3%) deaths. Five-year disease-free-survival was 71.3% and 5-year overall survival rate was 88.1%, for the entire cohort. Disease-free-survival was 90.4% and overall survival was 92.1% for patients entirely treated at the reporting institute. Sub-group analysis based on treatment adequacy showed that survival rate was 91.0% in patients who had timely and complete initial treatment versus 78.3% in patients where treatment was incomplete or delayed (p = 0.032). Factors affecting relapse were tumor histology, absence of surgical staging, presence of residual disease, inadequate response to chemotherapy, treatment outside reporting institute, and incomplete/delayed chemotherapy. Significant factors adversely affecting survival were presence of post-operative residual disease, tumor histology, incomplete response to chemotherapy, and inadequate/delayed treatment at primary setting. There was no statistically significant difference based on disease stage and whether fertility-sparing surgery or non-fertility-sparing surgery was performed. Prognosis of ovarian germ cell malignancies is excellent with timely, optimal treatment. The outcome improves significantly if managed adequately in the primary setting, involving dedicated gynecologic oncologists.

Case Report on Pure Yolk sac tumor of ovary in a young female

Case Report on Pure Yolk sac tumor of ovary in a young female

What is new about germ cell ovarian tumors?

Germ cell tumors of the ovary are the second most frequently found ovarian neoplasms following epithelial ovarian cancers. It is a heterogeneous group with an origin in a primitive germ cells. Therefore, germ cell tumors arise typically in the gonads- ovaries, and testicles. Neoplasms that develop from germ cells in other parts of the body are very rare. Among ovarian germ cell tumors, the most common is a mature teratoma. Tumors such as immature teratoma, dysgerminoma, embryonal carcinoma, or yolk sac tumor appear less frequently. Surgical treatment and chemotherapy, especially a protocol BEP (bleomycin, etoposide, cisplatin) play the most crucial role in the treatment of germ cell malignancies. Before the introduction of systemic chemotherapy, treatment of malignant germ cell tumors of the ovary tended to be poor. The prognosis has improved recently and fertility-conserving surgeries are being performed to enable patients to become pregnant. Additionally, it reduces the risk of late side effects. However, more and more emphasis is placed on developing new methods of treatment and on improving current methods. Some studies showed a therapeutic potential of SOX2 silencing for embryonal carcinoma. The aim of our study was to review the literature to analyze the latest and most effective treatments for embryonic ovarian tumors.

Chromosome 3p25.3 Gain Is Associated With Cisplatin Resistance and Is an Independent Predictor of Poor Outcome in Male Malignant Germ Cell Tumors.

PURPOSECisplatin is the main systemic treatment modality for male type II germ cell tumors (GCTs). Although generally very effective, 5%-10% of patients suffer from cisplatin-resistant disease. Identification of the driving mechanisms of resistance will enable improved risk stratification and development of alternative treatments.METHODSWe developed and characterized cisplatin-resistant GCT cell line models and compared their molecular characteristics with patient samples with cisplatin resistance and/or a poor clinical outcome. Subsequently, the association between the overlapping genetic features and clinical data was assessed. Finally, we used Cox regression to determine the prognostic relevance of these features within the currently used risk classification.RESULTSGain of chromosome 3p25.3 was detected in all cisplatin-resistant cell lines, and copy number of this region correlated with the level of resistance (R = 0.96, P = 1.5e-04). Gain of this region was detected at low frequencies in primary tumors and at higher frequencies in relapsed and/or cisplatin-resistant tumors. Chromosome 3p25.3 gain was associated with shorter progression-free survival and overall survival, with the strongest association observed in nonseminomas excluding pure teratomas. 3p25.3 gain was more frequently observed in tumors with yolk sac tumor histology and predicted adverse outcome independent of the International Germ Cell Cancer Collaborative Group risk classification and the presence of TP53/MDM2 alterations.CONCLUSIONOn the basis of both in vitro analyses and clinical data, we found 3p25.3 to be strongly associated with cisplatin resistance and poor clinical outcome in male type II GCTs. Using genomic profiling, 3p25.3 status could help to improve risk stratification in male patients with type II GCT. Further characterization of this locus and underlying mechanisms of resistance is warranted to guide development of novel treatment approaches for cisplatin-resistant disease.

Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases

The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.

Metastatic germ cell tumour in effusion cytology

Germ cell tumours infrequently metastasise to body cavities, where early detection on fluid samples is possible and can spearhead early treatment and survival. A total of seven cases of metastatic germ cell tumours were retrieved out of 7500 effusion samples received for cytopathological examination from 2015 to 2021. Detailed cytological features of metastatic germ cell tumours in effusion samples were studied, along with a correlation between clinical, radiological, and histopathological features. A total of seven cases of metastatic germ cell tumours were analysed in effusion samples which included dysgerminoma (2), immature teratoma (2), yolk sac tumour (1), embryonal carcinoma (1), and mixed germ cell tumour (1). The smears showed predominantly discrete or loose clusters of cells. The cells with round nuclei and prominent nucleoli were helpful in detecting dysgerminoma and yolk sac tumours. Immature teratoma showed tiny groups of small cells and mature squamous cells. Serum tumour markers were raised in the majority of cases. Metastatic germ cell tumours in effusion are uncommon, but detailed clinical history, including serum markers and characteristic cytological features, are helpful in their diagnosis.

Differential expression of preferentially expressed antigen in melanoma (PRAME) in testicular germ cell tumors – A comparative study with SOX17

The accurate identification of different components in testicular germ cell tumors (GCT) is essential for tailoring treatment and informing the clinical prognosis. PRAME (preferentially expressed antigen in melanoma), a member in the family of cancer testis antigens, plays critical roles in regulating pluripotency and suppressing somatic/germ cell differentiation in seminomas (SEM). To investigate the potential diagnostic value of PRAME in testicular GCT, here we comparatively examined the expression patterns of PRAME and SOX17 by immunohistochemistry in both pure and mixed GCT. Tissue microarrays constructed from 66 pure or mixed GCT were examined, including 25 seminomas (13 pure and 12 mixed), 35 embryonal carcinomas (EC; 7 pure and 28 mixed), 23 teratomas (TER; 10 pure and 13 mixed), 15 yolk sac tumors (YST; 1 pure and 14 mixed), and 5 choriocarcinomas (CC; 1 pure and 4 mixed), with 11 germ cell neoplasia in situ (GCNIS) and 6 normal testicular tissue as controls. The expression levels of PRAME or SOX17 were evaluated by a scoring system counting for intensity and extent of staining. PRAME nuclear expression was present in 92% (23/25) of SEM, including all 13 pure SEM, and 10 out of 12 seminomatous component of mixed GCT. In contrast, all EC and TER were completely negative for PRAME, and focal expression was demonstrated in 33.3% of YST and 20% of CC. As for SOX17, 96% of SEM and 73% of YST stained positively, whereas EC and CC were negative. Focal nuclear positivity was identified in the epithelial cell component of 17.4% (4/23) of TER. We found the sensitivity of PRAME to detect SEM to be comparable to SOX17, although SOX17 staining is more diffuse and stronger in the majority of cases. The specificity of PRAME for SEM appeared to be superior to that of SOX17 (92% versus 81%). In conclusion, PRAME is preferentially expressed in SEM or within the seminomatous component of mixed GCT with only focal variable expression in YST and CC, but shows no expression in EC and TER. These findings suggest that PRAME can be explored as a diagnostic marker for SEM.

Acute Hepatitis E With Elevated Alpha Fetoprotein: A Case Report and Literature Review

Acute Hepatitis E (AHE) is an acute self-limiting disease caused by Hepatitis E virus infection, which is mostly transmitted through the digestive tract. A few patients can lead to severe hepatitis and liver failure. Alpha fetoprotein is a sensitive serological marker of primary liver cancer. AFP may increase in different degrees in patients with gastrointestinal tumors, endodermal sinus tumors and germ cell carcinoma originating from endoderm. In addition, serum AFP can also be elevated in varying degrees in non-neoplastic acute and chronic liver diseases. We here report a case of Acute Hepatitis E with elevated serum AFP, and discuss the clinical characteristics and significance of elevated AFP in Acute Hepatitis E through literature review.

Vaginal tumours in childhood: a descriptive analysis from a large paediatric medical centre.

Malignant tumours of the vagina are very rare in children. The purpose of this study was to retrospectively analyse the clinical presentation, treatment, and outcome of vaginal tumours in children treated in a single institution. This study retrospectively analysed the clinical data of children diagnosed with vaginal malignant tumours who were admitted to the Beijing Children's Hospital of Capital Medical University from January 2007 to December 2020 and followed these patients to observe their prognoses and outcomes. During 13years, a total of 33 children were included in this study, including 13 children with rhabdomyosarcoma and 20 children with endodermal sinus tumours. The average age at diagnosis was 20.4months. The main clinical manifestations were vaginal bleeding and protruding masses. Of the 13 children with vaginal rhabdomyosarcoma, 12 were treated with multidrug chemotherapy combined with conservative tumour resection, and their tumours completely resolved; only one child underwent vaginectomy and hysterectomy. Twenty children with vaginal endodermal sinus received PEB chemotherapy. Among these patients, the tumour disappeared after chemotherapy in 12 children, and the remaining nodular tumour foci in 8 children were confirmed to be necrotic tissue by pathology. Our research confirms that chemotherapy combined with conservative surgical treatment is effective for treating children with vaginal malignancies.

Expression of miR-302a, miR-302b, miR-302c, miR-302d, miR-367, miR-371, miR-372, miR-373, miR-10b, miR-21 and miR-93 in cells of different histotypes of testicular germ cell tumors

Introduction. Testicular germ cell tumor is a relatively rare disease. Its high social significance is due to the fact that this pathology occurs in young patients. The standard schemes of polychemotherapy determine the potential possibility of effective treatment for most of the patients even with an advanced disease. Several circulating markers (alpha-fetoprotein, human chorionic gonadotropin and lactate dehydrogenase) are being used for therapy monitoring, but the low diagnostic specificity of these molecules determines the need to develop new approaches. Over the past years, circulating microRNA, for instance miR-371a-3p, appeared to be promising marker for testicular germ cell tumor monitoring. However, to develop and to implement in practice the microRNA-based diagnostic technologies, it’s necessarily to understand the features of the microRNA expression alterations specific for different histological types of testicular germ cell tumor.The study objective – to evaluate changes in the expression of several potential marker microRNA molecules (miR-302/ miR-367, miR-371/miR-373) in testicular germ cell tumor samples of various histological types.Materials and methods. Testicular germ cell tumor samples (n = 61), including seminomas, embryonic carcinomas, post-pubertal teratomas, yolk sac tumors, chorioncarcinomas, and corresponding normal tissue samples (n = 61) were included in the study. The analysis of selected miRNA expression was performed by reverse transcription and polymerase chain reaction.Results. We identified the changes in the expression profile of the miR-302/miR-367 cluster typical for semines, embryonic carcinomas, post-pubertal teratomas, yolk sac tumors and chorioncarcinomas, as well as changes in the expression profile of the miR-371/miR-373 cluster, universal for all histotypes except chorioncarcinomas. Inhibition of miR-10b and miR-145 expression in semines, embryonic carcinomas, and post-pubertal teratomas was demonstrated.Conclusion. Activation of miR-302b, miR-302d, miR-371a expression and inhibition of miR-10b, miR-145 expression in the tissue of the most common variants of testicular germ cell tumor is a characteristic feature of these tumors. The detected changes are significant and can lead to corresponding changes in the profile of circulating microRNAs.

Yolk Sac Tumor in an Infant with Androgen Insensitivity Syndrome: A Case Report and Review of the Literature

Background: Androgen insensitivity syndrome (AIS) is a disorder of sexual differentiation caused by complete or partial resistance to the biological action of androgens. The common malignant tumors associated with this syndrome are seminomas. However, the risk of malignancy in childhood remains low. Case Report: A 8-month-old child with a female phenotype and a 46, XY karyotype, presented with bilateral inguinal hernia. The patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and laparoscopic percutaneous extra-peritoneal herniorrhaphy. Final pathology confirmed a pure yolk sac tumor (YST) from the right testis. Androgen receptor (AR) gene mutation was found in the children. The follow-up ultrasonography shown no recurrence, with serum AFP returned to normal within 3 months. Conclusion: The case we presented is relatively infrequent in the literature with yolk sac tumor in a AIS children presented with a palpable lump inguinal region.

Very Late Recurrence in Germ Cell Tumor of the Testis: Lessons and Implications.

Simple SummaryVery late recurrence of testicular germ cell tumors, i.e., greater than 5 years after initial presentation, is a rare event occurring in about 1% of patients and is associated with poor prognosis. Our study sought to add to the available data and characterize patients with late recurrence. Patients with late recurrence > 5 years after initial presentation tend to harbor nonseminomatous germ cell tumors (with yolk sac tumor and or teratoma). Among these patients, a majority who did not undergo surgery to remove residual disease after chemotherapy developed somatic transformation and succumbed to their late recurrence. Further investigation into rates of late recurrence among all patients may be warranted given the poor survival after late recurrence.Background. Very late recurrence (LR), i.e., >5 years after initial presentation, occurs in about 1% of patients with germ cell tumors of the testis (TGCT) and is associated with poor prognosis. Methods. We retrospectively reviewed the records of patients at the M. D. Anderson Cancer Center who developed LR > 5 years after their initial diagnosis of TGCT. Results. We identified 25 patients who developed LR between July 2007 and August 2020. The median age at the time of LR was 46 years (range, 29–61). Pathology of LR: somatic transformation to carcinoma or sarcoma—11, nonseminoma with yolk sac tumor or teratoma—11, nonseminoma without yolk sac tumor or teratoma—2, not available—1. With a median follow-up of 3.5 years, 68% of patients are alive 3 years after LR. Patients with prior post-chemotherapy consolidation surgery do not have statistically significant longer survival compared to patients who did not receive post-chemotherapy consolidation surgery, 83.3% vs. 60.8% at 3 years, respectively, p = 0.50. Conclusions. Patients with LR > 5 years tend to harbor nonseminoma (with yolk sac tumor and or teratoma). Among these patients, a majority who did not undergo surgery to remove residual disease after chemotherapy developed somatic transformation and succumbed to their LR.