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Journal of Pediatric Hematology/oncology Aug 2021The aim of the study was to explore the clinicopathologic characteristics of sacrococcygeal yolk sac tumor (SYST) associated with relapse and the role of sensitivity to...
The aim of the study was to explore the clinicopathologic characteristics of sacrococcygeal yolk sac tumor (SYST) associated with relapse and the role of sensitivity to neoadjuvant chemotherapy in predicting outcome. The authors investigated prognostic factors of age, stage, initial tumor size, pathologic response to neoadjuvant chemotherapy, and alfa fetoprotein. A total of 26 patients with SYST were enrolled. Neoadjuvant chemotherapy was administered to 20 cases. Six patients underwent resection as initial therapy. Recurrence occurred in 12 patients. Nine patients with specimens exhibiting no malignant component after chemotherapy did not experience recurrence. By contrast, relapses occurred in 7 of 11 patients with viable residual tumor after neoadjuvant chemotherapy. All relapsed patients still achieved partial remission or complete remission after salvage therapy. Five-year relapse-free survival and overall survival rates were 55.2% and 100%, respectively (median follow-up, 59.5 mo; range, 16 to 155). Patients with complete necrosis after neoadjuvant chemotherapy had a better outcome compared with children with viable residual tumor. Relapse-free survival of pediatric SYSTs in this cohort were still low and warrants the multidisciplinary effort.
Topics: Child, Preschool; Combined Modality Therapy; Disease-Free Survival; Endodermal Sinus Tumor; Female; Humans; Infant; Male; Neoadjuvant Therapy; Neoplasm Recurrence, Local; Neoplasm Staging; Prognosis; Retrospective Studies; Salvage Therapy; Survival Rate
PubMed: 33512871
DOI: 10.1097/MPH.0000000000002068 -
Journal of Cellular and Molecular... Feb 2021Yolk-sac tumours (YSTs), a germ cell tumour subtype, occur in newborns and infants as well as in young adults of age 14-44 years. In clinics, adult patients with YSTs...
Yolk-sac tumours (YSTs), a germ cell tumour subtype, occur in newborns and infants as well as in young adults of age 14-44 years. In clinics, adult patients with YSTs face a poor prognosis, as these tumours are often therapy-resistant and count for many germ cell tumour related deaths. So far, the molecular and (epi)genetic mechanisms that control development of YST are far from being understood. We deciphered the molecular and (epi)genetic mechanisms regulating YST formation by meta-analysing high-throughput data of gene and microRNA expression, DNA methylation and mutational burden. We validated our findings by qRT-PCR and immunohistochemical analyses of paediatric and adult YSTs. On a molecular level, paediatric and adult YSTs were nearly indistinguishable, but were considerably different from embryonal carcinomas, the stem cell precursor of YSTs. We identified FOXA2 as a putative key driver of YST formation, subsequently inducing AFP, GPC3, APOA1/APOB, ALB and GATA3/4/6 expression. In YSTs, WNT-, BMP- and MAPK signalling-related genes were up-regulated, while pluripotency- and (primordial) germ cell-associated genes were down-regulated. Expression of FOXA2 and related key factors seems to be regulated by DNA methylation, histone methylation / acetylation and microRNAs. Additionally, our results highlight FOXA2 as a promising new biomarker for paediatric and adult YSTs.
Topics: Age Factors; Biomarkers, Tumor; Cell Line, Tumor; DNA Methylation; Disease Susceptibility; Endodermal Sinus Tumor; Hepatocyte Nuclear Factor 3-beta; Humans; Immunohistochemistry; Models, Biological; Oncogene Proteins
PubMed: 33448076
DOI: 10.1111/jcmm.16222 -
The Pan African Medical Journal 2020Yolk sac tumor (YST) is one of the malignant germ-cell tumors (MGCT) that usually occurs in the ovaries and testes of young patients. Its occurrence in the vagina is...
Yolk sac tumor (YST) is one of the malignant germ-cell tumors (MGCT) that usually occurs in the ovaries and testes of young patients. Its occurrence in the vagina is extremely rare. We present a rare case of extragonadal YST occurring in the vaginal region. A 12-year-old girl, presented with vaginal bleeding and pain in the perineal region. Physical exam identified a limited pelvic mass, 5 x 4cm in size. Abdominal ultrasound and magnetic resonance imaging (MRI) showed a heterogeneous mass in cervico-vaginal region. The patient was taken to the surgery, where an excisional biopsy was obtained. The diagnosis of YST is confirmed by histopathology and immunohistochemistry studies. However, the tumor marker (alpha fetoprotein and BHCG) was normal. The patient was treated according to the French TGM-95 protocol. Surgery was done after chemotherapy, hysterectomy in front of the cervical invasion, with a good decline at 2 years of end of treatment.
Topics: Biopsy; Child; Combined Modality Therapy; Endodermal Sinus Tumor; Female; Humans; Magnetic Resonance Imaging; Ultrasonography; Uterine Hemorrhage; Vaginal Neoplasms
PubMed: 33425202
DOI: 10.11604/pamj.2020.37.169.20949 -
Journal of Cancer Research and... 2021Growing teratoma syndrome (GTS) is a very uncommon phenomena. Given its lower prevalence, there is little data about clinichopathological features and management of GTS....
BACKGROUND
Growing teratoma syndrome (GTS) is a very uncommon phenomena. Given its lower prevalence, there is little data about clinichopathological features and management of GTS. Literature about disease mostly composed of case reports. In this study, we aimed to report patients characteristics and treatment modalities in our center within a relatively large cohort.
PATIENTS AND METHODS
We retrospectively reviewed the clinical records 21 patients who fulfilled criteria of GTS. Survival analysis was performed by using the Kaplan-Meier method with the Long-rank test. p<0.05 was considered statistically significant.
RESULTS
The median age at diagnosis was 25 (range 17-51). A total of 12 patients could have undergone surgery. Of patients who underwent surgery, 5 patients remained fully disease free, and 7 patients had experienced disease recurrences. Nine patients had unresectable disease, and treated with either platin-based chemotherapy or interferone α2b. Of those, 5 patients eventually had undergone autologous stem cell transplantation (ASCT) with surprisingly promising response rates. One patient had complete response and three patients had partial response. One patient died soon after ASCT due to infectious complication.
CONCLUSION
GTS is an unique entity with regard to its clinicopathological features and available treatment options as we mentioned in the text. Despite various agents reported to have efficacy in case reports, surgery remains as the mainstay of treatment. According to result of our study, ASCT and platin-based chemotherapy regimens may be feasible options for patients with unresectable disease.
Topics: Adolescent; Adult; Antineoplastic Combined Chemotherapy Protocols; Combined Modality Therapy; Databases, Factual; Endodermal Sinus Tumor; Hematopoietic Stem Cell Transplantation; Humans; Middle Aged; Neoplasm Recurrence, Local; Neoplasms, Germ Cell and Embryonal; Prognosis; Retrospective Studies; Surgical Procedures, Operative; Survival Rate; Teratoma; Young Adult
PubMed: 33328389
DOI: 10.4103/jcrt.JCRT_568_19 -
The Medical Journal of Malaysia Nov 2020The mother of a 9-month-old female infant complained that her child was unable to pass urine at the same time noticing a mass protruding from the vaginal orifice.The...
The mother of a 9-month-old female infant complained that her child was unable to pass urine at the same time noticing a mass protruding from the vaginal orifice.The infant had a single episode of vaginal bleeding.The primary concern of the mother was the inability of the daughter to micturate. Malignant germ cell tumour arising from an infant vagina is rare and accounts for about 3% of all paedriatic malignancies. These are also referred to as endodermal sinus tumours or yolk sac tumours, and are mostly the commonest form of infant vaginal malignancies encountered. A diagnosis of endodermal sinus tumour was established based on the histology and raised α-fetoprotein levels.These tumours had Schiller-Duval bodies which are primarily blood vessels surrounded by primordial germ cells and were periodic acid shift (PAS) positive diastase resistant hyaline globules which also stain positive with α- fetoprotein which is an important diagnostic feature. Tumours with high α-fetoprotein levels have a poorer prognosis. However, they respond satisfactorily to chemotherapy.
Topics: Endodermal Sinus Tumor; Female; Humans; Infant; Mothers; Referral and Consultation; Vaginal Neoplasms
PubMed: 33219193
DOI: No ID Found -
Cancer Genomics & Proteomics 2020Mesonephric carcinoma (MNC) is a rare but notable entity of the female genital tract. While many researchers have acknowledged and studied MNC, much remains unknown on...
BACKGROUND/AIM
Mesonephric carcinoma (MNC) is a rare but notable entity of the female genital tract. While many researchers have acknowledged and studied MNC, much remains unknown on the characteristics of mesonephric remnant (MNR) or hyperplasia (MNH). There has not been any study examining the molecular features of MNR and MNH so far. The aim of this study was to investigate the clinicopathological and molecular characteristics of ten uterine mesonephric lesions, including two MNRs without atypia, four MNHs without atypia, and three MNHs with atypia.
MATERIALS AND METHODS
We reviewed the electronic medical records and all available slides of ten cases from multiple institutions. Targeted sequencing and array comparative genomic hybridization were performed.
RESULTS
Three atypical MNHs displayed nuclear enlargement, mild-to-moderate nuclear pleomorphism, and nuclear membrane irregularity, and harbored pathogenic Kirsten rat sarcoma 2 viral oncogene homolograt sarcoma 2 viral oncogene homolog (KRAS) mutation. Two of those that co-existed with MNC harbored the same sequence alterations as each of their adjacent MNC. One of the three atypical MNHs harbored chromosome 1q gain.
CONCLUSION
Atypical MNH is a potential premalignant lesion in which KRAS mutation and chromosome 1q gain play an important role in the early stage of mesonephric carcinogenesis.
Topics: Adenocarcinoma; Biomarkers, Tumor; Chromosomes, Human, Pair 1; Female; Gain of Function Mutation; Humans; Hyperplasia; Mesonephroma; Middle Aged; Mutation; Precancerous Conditions; Prognosis; Proto-Oncogene Proteins p21(ras); Uterine Cervical Neoplasms
PubMed: 33099482
DOI: 10.21873/cgp.20235 -
International Braz J Urol : Official... 2021
Topics: Adult; Endodermal Sinus Tumor; Fluorodeoxyglucose F18; Humans; Male; Neoplasms, Germ Cell and Embryonal; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Testicular Neoplasms
PubMed: 33047930
DOI: 10.1590/S1677-5538.IBJU.2019.0780 -
The Oncologist Feb 2021The novel coronavirus disease 2019 has grown to be a global public health emergency. The rapid spread of the infection has raised many questions in the oncohematological...
The novel coronavirus disease 2019 has grown to be a global public health emergency. The rapid spread of the infection has raised many questions in the oncohematological scientific community regarding the appropriateness of high-dose chemotherapy with autologous stem cell transplantation (ASCT). We here report two cases of patients who received ASCT at our Institute during the epidemic in Italy, affected with Hodgkin lymphoma and germ cell tumor, respectively. The two patients underwent a nasopharyngeal swab for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on hospital admittance and during the period of bone marrow aplasia. They were attended to exclusively by dedicated health care staff who followed specifically implemented protocols for bedside nursing and care. They completed the procedure without unexpected side effect. Our experience demonstrates how ASCT can be performed safely if procedures are reorganized ad hoc to reduce the risk of SARS-CoV-2 infection.
Topics: Adolescent; Adult; Antineoplastic Combined Chemotherapy Protocols; COVID-19; COVID-19 Testing; Endodermal Sinus Tumor; Female; Hematopoietic Stem Cell Transplantation; Hodgkin Disease; Humans; Infection Control; Male; Pandemics; Protective Clothing; SARS-CoV-2; Transplantation Conditioning; Transplantation, Autologous; Treatment Outcome
PubMed: 33044758
DOI: 10.1002/onco.13563 -
Communications Biology Sep 2020To elucidate the molecular pathogenesis of pediatric germ cell tumors (GCTs), we performed DNA methylation array analysis, whole transcriptome sequencing, targeted...
To elucidate the molecular pathogenesis of pediatric germ cell tumors (GCTs), we performed DNA methylation array analysis, whole transcriptome sequencing, targeted capture sequencing, and single-nucleotide polymorphism array analysis using 51 GCT samples (25 female, 26 male), including 6 germinomas, 2 embryonal carcinomas, 4 immature teratomas, 3 mature teratomas, 30 yolk sac tumors, and 6 mixed germ cell tumors. Among the 51 samples, 11 were from infants, 23 were from young children, and 17 were from those aged ≥10 years. Sixteen of the 51 samples developed in the extragonadal regions. Germinomas showed upregulation of pluripotent genes and global hypomethylation. Pluripotent genes were also highly expressed in embryonal carcinomas. These genes may play essential roles in embryonal carcinomas given that their binding sites are hypomethylated. Yolk sac tumors exhibited overexpression of endodermal genes, such as GATA6 and FOXA2, the binding sites of which were hypomethylated. Interestingly, infant yolk sac tumors had different DNA methylation patterns from those observed in older children. Teratomas had higher expression of ectodermal genes, suggesting a tridermal nature. Based on our results, we suggest that KIT, TNFRSF8, and ERBB4 may be suitable targets for the treatment of germinoma, embryonal carcinomas, and yolk sac tumors, respectively.
Topics: Carcinoma, Embryonal; Child; Child, Preschool; DNA Copy Number Variations; DNA Methylation; Endodermal Sinus Tumor; Female; Germinoma; Humans; Infant; Male; Neoplasms, Germ Cell and Embryonal; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Teratoma; Exome Sequencing
PubMed: 32999426
DOI: 10.1038/s42003-020-01267-8 -
The Malaysian Journal of Pathology Aug 2020Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
INTRODUCTION
Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
CASE REPORT
We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117.
DISCUSSION
Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Dysgerminoma; Endodermal Sinus Tumor; Female; Humans; Immunohistochemistry; Infant; Proto-Oncogene Proteins c-kit; Sarcoma, Clear Cell; Vagina; Vaginal Neoplasms
PubMed: 32860387
DOI: No ID Found