-
Seminars in Diagnostic Pathology Jan 2023Germ cell neoplasia in situ (GCNIS) is the precursor of both seminomatous and non-seminomatous germ cell tumors. It consists of distended tubules that may have either... (Review)
Review
Germ cell neoplasia in situ (GCNIS) is the precursor of both seminomatous and non-seminomatous germ cell tumors. It consists of distended tubules that may have either intratubular seminoma or intratubular embryonal carcinoma cells. Many invasive non-seminomatous tumors contain a mixture of tumor types, which are reviewed here. Morphology, aided by a panel of immunostains, can determine the presence and percent of embryonal carcinoma, yolk sac tumor, choriocarcinoma, or teratoma in such tumors. Use of immunostains, required for diagnosis in perhaps 25% of testicular neoplasms, is reviewed. Changes of classification in the AJCC (8 edition) in 2016 are discussed, including the partitioning of two tumor types: the central role of chromosome 12p amplification allows both teratoma and yolk sac tumor to be divided into prepubertal types (lacking amplification) and post-pubertal types. Occasionally, sex cord-stromal tumors, hematolymphoid tumors, or epididymal adenomatoid tumors enter the differential diagnosis of germ cell neoplasms.
Topics: Male; Humans; Endodermal Sinus Tumor; Neoplasms, Germ Cell and Embryonal; Testicular Neoplasms; Carcinoma, Embryonal; Teratoma; Seminoma
PubMed: 35840444
DOI: 10.1053/j.semdp.2022.07.001 -
Arquivos Brasileiros de Cardiologia Jul 2022
Topics: Endodermal Sinus Tumor; Humans; Magnetic Resonance Imaging
PubMed: 35830114
DOI: 10.36660/abc.20210335 -
Human Pathology Oct 2022Treatment for testicular germ cell tumors (GCTs) includes orchiectomy followed potentially by adjuvant chemotherapy. Rarely, patients with testicular GCT have...
Treatment for testicular germ cell tumors (GCTs) includes orchiectomy followed potentially by adjuvant chemotherapy. Rarely, patients with testicular GCT have significant metastatic disease, requiring neoadjuvant chemotherapy before orchiectomy. We investigated the pathologic findings and clinical outcomes in patients who underwent neoadjuvant chemotherapy before orchiectomy for testicular GCT. We identified 45 patients with a mean age of 34 years (range, 15-66 years). Orchiectomy findings included pure teratoma (n = 23), no residual tumor (n = 13), mixed GCT (n = 5), pure seminoma (n = 2), pure yolk sac tumor (YST) (n = 1), and pure germ cell neoplasia in situ (n = 1). Cancer-specific death occurred in 4 of 45 patients (9%). Seventeen of 45 patients (38%) experienced disease progression after initial chemotherapy. Eleven of 45 patients (24%) underwent salvage chemotherapy. Retroperitoneal lymph nodes were the most common site of metastases followed by lung. Overall, the most common type of tumor found in metastases was YST (12/45, 27%) and teratoma (11/45, 24%). Of the 23 patients with residual pure teratoma in the testis, 9 (39%) had disease recurrence and/or progression and 3 (13%) died. In the metastases of these patients, nonteratoma GCT was found in 17 of 23 patients (74%). Nine of 45 patients (20%) had residual testicular nonteratoma GCT. Of the 9 patients, 6 (67%) had disease recurrence and/or progression and 1 (11%) died. Patients with no residual testicular disease (ypT0) had a lower risk of disease recurrence and/or progression (P = .046) and had no deaths. In patients who have undergone neoadjuvant chemotherapy for testicular GCT, the orchiectomy histology often does not correlate with the histology of metastases. No residual testicular disease indicates a better prognosis in these patients.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Endodermal Sinus Tumor; Humans; Male; Neoadjuvant Therapy; Neoplasm Recurrence, Local; Neoplasm, Residual; Neoplasms, Germ Cell and Embryonal; Orchiectomy; Teratoma; Testicular Neoplasms
PubMed: 35817140
DOI: 10.1016/j.humpath.2022.06.026 -
AJNR. American Journal of Neuroradiology Jul 2022Primary intracranial pure yolk sac tumor is very rare. Our aim was to summarize the characteristics of primary intracranial pure yolk sac tumors from the clinical and...
BACKGROUND AND PURPOSE
Primary intracranial pure yolk sac tumor is very rare. Our aim was to summarize the characteristics of primary intracranial pure yolk sac tumors from the clinical and imaging aspects in a retrospective study.
MATERIALS AND METHODS
We studied 5 patients with primary intracranial pure yolk sac tumors in Guangzhou Women and Children's Medical Center from January 2015 to June 2021. A comprehensive literature search was performed on the electronic database of the China National Knowledge Infrastructure (1990 to June 2021). Clinical data based on age, sex, treatment, CT, and MR imaging findings were collected and analyzed.
RESULTS
A total of 25 patients were included in the study, 21 boys and 4 girls. Twenty-one patients underwent plain MR imaging and an enhanced examination, 9 patients underwent DWI, and 12 patients underwent plain CT and/or an enhanced examination. The tumors were posterior fossa in 9 cases and supratentorial in 16 cases. All tumors showed marked enhancement after enhanced scanning by MR imaging or CT. The signal on DWI was similar to that of the cerebral cortex, and the ADC map was similar to or slightly higher than that of the cerebral cortex. Among the cases, 13 were followed up from 2 months to 5 years. There was no recurrence or metastasis in 9 patients with postoperative chemotherapy or chemoradiotherapy followed up for 1.5-5 years. Four patients died 2 months to 1.5 years after only an operation, or chemoradiotherapy but no operation.
CONCLUSIONS
There are some relatively specific imaging findings of primary intracranial yolk sac tumors that could assist in their diagnosis. Surgery combined with radiation therapy and/or chemotherapy can achieve a better prognosis.
Topics: Adolescent; Child; China; Endodermal Sinus Tumor; Female; Humans; Male; Prognosis; Retrospective Studies
PubMed: 35798388
DOI: 10.3174/ajnr.A7556 -
Histopathology Sep 2022SMARCB1 (INI-1)-deficient vulvar neoplasms comprise a group of rare tumours that include epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), the recently described...
AIMS
SMARCB1 (INI-1)-deficient vulvar neoplasms comprise a group of rare tumours that include epithelioid sarcoma (ES), myoepithelial carcinoma (MEC), the recently described myoepithelioma-like tumour of the vulvar region (MELTVR), and sarcomas that are difficult to classify. It has been suggested that so-called vulvar yolk sac tumours (YST) may represent morphologic variants of SMARCB1-deficient tumours; thus, we investigated the immunoreactivity of germ cell markers in SMARCB1-deficient vulvar neoplasms.
METHODS AND RESULTS
Ten SMARCB1-deficient vulvar neoplasms were stained with germ cell tumour markers (SALL4, glypican-3, OCT3/4, and AFP) and re-reviewed for morphologic features. The tumours occurred in adult females (median age 41 years) and included ES (n = 7), MELTVR (n = 2), and MEC (n = 1). All cases showed loss of SMARCB1 expression. Four cases (40%) were focally positive for SALL4 in areas with morphology of typical-appearing ES. One of these cases also showed focal staining for OCT3/4. One ES showed a transition from typical-appearing ES to YST-like morphology, with diffuse expression of SALL4 and glypican-3, and focal expression of AFP, in these latter areas. All other tested cases were negative for AFP.
CONCLUSION
Our study reveals that SALL4, glypican-3, and OCT3/4 are positive in a subset of SMARCB1-deficient vulvar neoplasms, which may pose a diagnostic challenge and result in consideration of a germ cell tumour. We also highlight a case with transition from ES to YST-like morphology, lending further support that YSTs of the vulva are somatically derived SMARCB1-deficient neoplasms and do not represent true germ-cell neoplasia.
Topics: Adult; Biomarkers, Tumor; Carcinoma; Endodermal Sinus Tumor; Female; Glypicans; Humans; Immunohistochemistry; Myoepithelioma; Neoplasms, Germ Cell and Embryonal; SMARCB1 Protein; Sarcoma; Transcription Factors; Vulvar Neoplasms; alpha-Fetoproteins
PubMed: 35758187
DOI: 10.1111/his.14709 -
Journal of Pediatric Hematology/oncology Mar 2023Germ cell tumors (GCTs) may occur from the neonatal period to late adulthood, characterized by extensive clinical and pathologic heterogeneity. MicroRNAs are a family of...
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
Topics: Child; Infant, Newborn; Adolescent; Humans; Adult; Male; MicroRNAs; Endodermal Sinus Tumor; Neoplasms, Germ Cell and Embryonal; Teratoma; RNA, Small Untranslated; Testicular Neoplasms
PubMed: 35700382
DOI: 10.1097/MPH.0000000000002495 -
International Journal of Gynecological... May 2023Recent studies have provided molecular confirmation that a subset of yolk sac tumors is somatically derived. Somatically derived yolk sac tumors are typically diagnosed...
Recent studies have provided molecular confirmation that a subset of yolk sac tumors is somatically derived. Somatically derived yolk sac tumors are typically diagnosed in older women and are often seen adjacent to epithelial proliferations (such as endometriosis or endometrioid carcinoma) with which they share mutations. Here, we present a case of a postmenopausal woman with a yolk sac tumor and endometriosis in the right ovary, endometriosis with glandular crowding and reactive changes in the left ovary, endometrial endometrioid carcinoma, and yolk sac tumor involving the serosa of the colon. Targeted next-generation sequencing of these five tumor components demonstrated identical mutations in PTEN (p.R130G), PIK3CA (p.G1049S), FGFR2 (p.S252W), and FBXW7 (p.R689Q), suggesting that all components arose from a common precursor. The endometrial endometrioid carcinoma harbored additional exclusive mutations involving PIK3CA (p.H1048R) and CTNNB1 (p.S37F).
Topics: Endometriosis; Ovarian Neoplasms; Endodermal Sinus Tumor; Carcinoma, Endometrioid; Peritoneal Neoplasms; Humans; Female; Middle Aged
PubMed: 35639393
DOI: 10.1097/PGP.0000000000000889 -
International Journal of Gynecological... Mar 2023The fetal gut-like phenotype can be found in yolk sac tumors and adenocarcinomas with enteroblastic differentiation (AEBDs). We report a cervical yolk sac tumor in a...
The fetal gut-like phenotype can be found in yolk sac tumors and adenocarcinomas with enteroblastic differentiation (AEBDs). We report a cervical yolk sac tumor in a 44-yr-old woman. The tumor has similar morphology, immunophenotype, and molecular features to the AEBD of the digestive system. The tumor showed a glandular-predominant growth pattern, composed of columnar cells with clear glycogen-rich cytoplasm. The microcystic/reticular architecture or Schiller-Duval bodies were not found in the tumor. Immunohistochemically, the tumor cells were positive for p16, glypican-3 (GPC3), spalt-like transcription factor 4 (SALL4), CDX-2, and p53. TP53 mutation was identified by next-generation sequencing, and human papillomavirus (HPV) 35 was detected by HPV DNA polymerase chain reaction. In the present case, the adenocarcinoma cells in the superficial cervical glandular epithelium and the nonclear glandular components proved the existence of somatic components. The positivity of p16 and HPV also supports that the present case originates from an HPV-associated adenocarcinoma. The yolk sac tumor should be thought of as "germ cell differentiation" from a somatic carcinoma. This kind of yolk sac tumor arising from somatic-type adenocarcinoma in the female genital tract may be the counterpart of AEBD in the digestive tracts and adenocarcinomas with fetal gut-like morphology in other organs. The tumor might be more aggressive than conventional adenocarcinoma, pathologists should highlight the existence of the enteroblastic component in the pathologic report.
Topics: Humans; Female; Endodermal Sinus Tumor; Biomarkers, Tumor; Papillomavirus Infections; Cell Differentiation; Adenocarcinoma; Uterine Cervical Neoplasms; Glypicans
PubMed: 35639370
DOI: 10.1097/PGP.0000000000000891 -
Diagnostic Cytopathology Sep 2022The majority of germ cell tumors (GCTs) are characterized by iso-chromosome 12p (i12p) abnormality. The aim of this study is to review the cytomorphologic features and...
The majority of germ cell tumors (GCTs) are characterized by iso-chromosome 12p (i12p) abnormality. The aim of this study is to review the cytomorphologic features and analyze the utility of i12p fluorescent in-situ hybridization (FISH) test in diagnosing metastatic GCTs primarily evaluated by cytologic techniques in patients without prior history of GCTs. The laboratory information system was queried over a period of 10 years to search for cases where i12p FISH test was requested on cytology material. FISH test was performed using TelVysion 12p telomeric probe and CEP 12 centromere probe on cell-blocks. A ratio of 12ptel/CEP12 signal of 1.4 or greater was considered as positive. Patient demographics, clinical presentation, cytopathologic findings, and follow-up surgical resection data were reviewed and correlated. A total of three cases were identified, all men (age range 31-60 years). Cytologic diagnoses were favor metastatic embryonal carcinoma (Case 1, retroperitoneal fluid FNA), metastatic yolk sac tumor/YST (Case 2, lung mass FNA) and adenocarcinoma, likely representing a somatic-type malignancy (SM) arising from a preexisting GCT (Case 3, retroperitoneal mass FNA). This limited study demonstrated high sensitivity for detecting i12p abnormality by FISH test performed on cell blocks. The cytomorphology of extra-gonadal GCTs varies according to the histologic subtype. Sarcomatoid morphology of YST, SM or mixed GCTs further complicates cytology evaluation. FISH test for detection of i12p performed on cell-blocks is extremely useful in establishing germ cell origin of these metastatic GTCs with unusual cytomorphology and guides management in patients without prior history of GCTs.
Topics: Endodermal Sinus Tumor; Humans; In Situ Hybridization, Fluorescence; Male; Neoplasms, Germ Cell and Embryonal; Sarcoma; Testicular Neoplasms
PubMed: 35612406
DOI: 10.1002/dc.24980 -
Cancer Biology & Therapy Dec 2022Mediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of...
Mediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of mediastinal YSTs. To maximize benefit from radiotherapy in patients with mediastinal YSTs, exploring functionally relevant biomarkers is essential. Previous studies have demonstrated that mutations in DNA-damage repair (DDR) genes, including , potentially enhance sensitivity to radiotherapy in solid tumors. However, DDR-gene mutations, as possible predictive biomarkers for radiotherapy in primary mediastinal YSTs, have not yet been reported. Herein, we report a 29-year-old male patient with a refractory metastatic primary YST involving a germline frameshift mutation in the gene (NM_000059.3: exon11: c.4563_4564delAT: L1522fs). During treatment alternation, the patient was found to respond poorly to chemotherapy with or without an immune checkpoint inhibitor but well to radiotherapy. Finally, the patient achieved approximately 17 months of overall survival. To the best of our knowledge, this case report is the first to describe a remarkable response to local radiotherapy in a patient with a refractory metastatic mediastinal YST involving a DDR-gene mutation (germline frameshift variation). This case report provides insightful clues for precision radiotherapy in clinical practice.
Topics: Adult; BRCA2 Protein; Biomarkers; Endodermal Sinus Tumor; Frameshift Mutation; Germ-Line Mutation; Humans; Male; Mediastinal Neoplasms
PubMed: 35576916
DOI: 10.1080/15384047.2022.2072635