A case of a 45,X,46,X+mar male phenotype mosaic Turner syndrome with a mixed gonadal germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.

Tumor del saco vitelino primario de vagina en una niña. A propósito de un caso / Primary vaginal yolk sac tumor in a girl. Case report

Las neoplasias ginecológicas en niñas son raras. Representan menos del 5 % de todos los cánceres en pediatría. No existen estadísticas sobre la incidencia de tumores de vagina en esta etapa de la vida. Se presenta el caso de una niña de 9 meses con sangrado por genitales. La ecografía evidencia una masa sólida en vagina, y la vaginoscopia, un tumor friable. Presenta valores de α-fetoproteína elevados, por lo que se diagnostica tumor de saco vitelino, confirmado por biopsia. Se realiza tratamiento quimioterápico. A menos de 1 año del diagnóstico, se encuentra en remisión completa. Este caso resulta de interés no solo por la rareza, sino también porque el diagnóstico rápido de tumor de saco vitelino permite mejorar los resultados y la sobrevida de las pacientes

Gynecological neoplasms in girls are rare and represent only less than 5 % of all childhood tumors. There are no statistics on the incidence of vaginal tumors at this stage in life. We present a 9-month-old girl evaluated for genital bleeding. Ultrasound reveals a vaginal solid mass and vaginoscopy reports a friable tumor. AFP is elevated. A yolk sac tumor is confirmed by biopsy she receives chemotherapy. Within a year after diagnosis, she remains tumor-free. This is a case of interest, not only because of its rarity, but also because a rapid diagnosis of a yolk sac tumor improves outcomes and patient's survival rates.

Tumor mediastinal de células germinales en un paciente con melanoptisis / Mediastinal germ cell tumor in a patient with melanoptysis / Tumor de células germinativas mediastinais em paciente com melanoptise

Figuras A Y B: Radiografía de Tórax Anteroposterior (AP) y Lateral. Presencia de gran lesión al parecer del mediastino medio (Flechas blancas), con diámetros de 11 x 15 x 12 cm, de densidad homogénea, con efecto de masa y desviación de todas las estructuras (Flechas negras) y compresión sobre el lóbulo superior derecho (*), sin calcificaciones en su interior. Figura C. Tomografía computarizada de tórax con contraste corte coronal. En la región central del mediastino anterior, se identifica una masa hipodensa, heterogénea, con densidad de predominio de tejido blando, con algunas imágenes de densidad cálcica en su interior, de 14.3 x 10.2 x 12.6 (Línea amarilla) cm, que se encuentra desplazando la aorta ascendente, con trayecto tortuoso (Flecha azul), la flecha roja señala el tronco braquiocefálico. Figura D. Tomografía computarizada de tórax corte axial en ventana mediastinal. Masa hipodensa, heterogénea, con densidad de predominio de tejido blando, con algunas imágenes de densidad cálcica en su interior, la cual se encuentra desplazando y ocupando gran parte de la porción anterior del hemitórax derecho. Así mismo se encuentra desplazando estructuras mediastinales como el tronco de la pulmonar (Flecha azul), esta masa se encuentra generando atelectasia pasiva del lóbulo medio derecho (Flecha roja). Cómo citar. López-Salazar JP, Delgado-Serrano J. Tumor mediastinal de células germinales en un paciente con melanoptisis. MedUNAB. 2020;23(2): 191-194. doi:10.29375/01237047.3748

Figures A and B: Anteroposterior (AP) and Lateral Chest X-ray. Presence of a large mass, apparently from the middle mediastinum (white arrows), diameters of 11 x 15 x 12 cm, homogeneous density, with the mass effect on other mediastinal structures (black arrows) and compression on the right upper lobe (*), without inner calcifications. Figure C. Chest Computed Tomography, coronal section. In the anterior mediastinum it shows a hypodense, heterogeneous mass, with predominance of soft tissue density, with some calcifications inside, diameters of 14.3 x 10.2 x 12.6 (yellow line) cm, displacing the ascending aorta (blue arrow), the red arrow indicates the brachiocephalic trunk. Figure D. Computed tomography of the chest, axial section. Hypodense, heterogeneous mass, with predominance of soft tissue density, with some calcifications inside, which occupying a large parto f the anterior right hemithorax. It is also displacing mediastinal structures such as the trunk of the pulmonary artery (blue arrow), this mass is generating passive atelectasis of the right middle lobe (red arrow). Cómo citar. López-Salazar JP, Delgado-Serrano J. Tumor mediastinal de células germinales en un paciente con melanoptisis. MedUNAB. 2020;23(2): 191-194. doi:10.29375/01237047.3748

Figuras A e B: Radiografia de tórax (anteroposterior (AP) e lateral). Presença de grande massa, aparentemente do mediastino médio (Setas brancas), diâmetros de 11 x 15 x 12 cm, densidade homogênea, com efeito de massa em outras estruturas mediastinais (setas pretas) e compressão no lobo superior direito (*), sem calcificações internas. Figura C. Tomografia computadorizada de tórax, corte coronal. No mediastino anterior, mostra uma massa hipodensa e heterogênea, com predominância da densidade de partes moles, com algumas calcificações internas, diâmetros de 14,3 x 10,2 x 12,6 (Linha amarela) cm, deslocando a aorta ascendente (seta azul), a seta vermelha indica o tronco braquiocefálico. Figura D. Tomografia computadorizada de tórax, corte axial. Massa hipodensa, heterogênea, com predominância da densidade de partes moles, com algunas calcificações internas, que ocupam grande parte do hemitórax anterior direito. Também está deslocando estruturas mediastinais, como o tronco da artéria pulmonar (Seta azul), essa massa está gerando atelectasia passiva do lobo médio direito (Sseta vermelha). Cómo citar. López-Salazar JP, Delgado-Serrano J. Tumor mediastinal de células germinales en un paciente con melanoptisis. MedUNAB. 2020;23(2): 191-194. doi:10.29375/01237047.3748

Metástasis retroperitonal gigante de un tumor del saco de Yolk / Giant retroperitonal metastasis from a Yolk sac tumor

RESUMEN Paciente con antecedentes de cirugía de tumor testicular, con biopsia de tumor de saco de Yolk y con diagnóstico de un tumor metastásico retroperitoneal irresecable. Un año más tarde de este último diagnóstico es remitido a nosotros, con un aumento considerable de dicha lesión y se logra su exéresis satisfactoriamente. Se realizó una revisión de la literatura, las indicaciones y técnicas en el tratamiento de la metástasis retroperitoneal de un tumor del saco de Yolk y se presentan los resultados de un paciente diagnosticado e intervenido en el Hospital Clínico Quirúrgico "Hermanos Ameijeiras", en el año 2016. La diseminación metastásica retroperitoneal del tumor del saco de Yolk es poco frecuente, muy poco reportado a nivel mundial y con pocas experiencias en su tratamiento. Se realizó una técnica de resección de una lesión gigante con quimioterapia adyuvante posoperatoria. No hubo complicaciones relacionadas con el proceder(AU)

ABSTRACT Patient with a history of testicular tumor surgery, with a Yolk sac tumor biopsy and with a diagnosis of an unresectable retroperitoneal metastatic tumor. One year after this last diagnosis, he was referred to us, with a considerable increase in this lesion and his excision was successfully achieved. A review of the literature, indications and techniques for the treatment of retroperitoneal metastasis from a Yolk sac tumor was performed, and the results of a patient diagnosed and operated on at the "Hermanos Ameijeiras" Clinical Surgical Hospital, in the year 2016. Retroperitoneal metastatic spread of Yolk sac tumor is infrequent, very little reported worldwide and with few experiences in its treatment. A giant lesion resection technique was performed with postoperative adjuvant chemotherapy. There were no complications related to the procedure(AU)

Conservative Surgery for a young nulligravid with ovarian yolk sac tumor and concurrent contralateral mature teratoma

@#<p>Ovarian cancer is the second most common gynecologic cancer worldwide and the six most common cancer among females. Germ cell tumorbs are the most common ovarian neoplasm in the first two decades of life constituting approximately two-thirds of all ovarian tumors. Malignant germ cell tumors constitute one-third of germ cell origin tutors and two-thirds of all ovarian malignancy in this age-group. This paper presents a case of a 19 year-old nulligravid who presented at the emergency room with abdominal pain, and was intraoperatively diagnosed with yolk sac tutor of the right ovary, stage 1A mature cystic teratoma of the left ovary. She subsequently underwent unilateral salpingooophorectomy and contralateral oophorocystectomy, left. Patient is advised chemotherapy postoperatively, with Bleomycin, Etoposide and Paclitaxel. This paper discusses the incidence, risk factors, prognosis and management of yolk of sac tutor in a young nulligravid.</p>

Diagnosis and treatment of seven primary mediastinal yolk sac tumors / 北京大学学报(医学版)

OBJECTIVE@#Primary mediastinal yolk sac tumor, which is also known as endodermal sinus tumor, is a rare but lethal neoplasm and its prognosis is very dismal. The current treatment for this tumor is controversial, and chemotherapy combined with resection of residual lesions is adopted sometimes. We summarized the experience of seven primary mediastinal yolk sac tumors treated with platinum-based chemotherapy and extended resection in Peking University First Hospital.@*METHODS@#Clinicopathological data of the patients with primary mediastinal yolk sac tumor who received operation in Peking University First Hospital between August 2014 and August 2018 were collected and analyzed retrospectively.@*RESULTS@#We experienced seven primary mediastinal yolk sac tumors during this period. Computed tomography scan revealed an anterior mediastinal tumor in all the patients and all of them had markedly raised alphafetoprotein (AFP) and normal β-human chorion gonadotropin (β-HCG). Five patients underwent needle core biopsy before treatment, which showed a mediastinal yolk sac tumor. All of these patients received preoperative platinum-based chemotherapy and they all presented partial response according to computed tomography. Two other patients did not receive preoperative biopsy, so they directly underwent extended resection. All of the seven patients underwent operation successfully and two of them experienced postoperative complications, including one with pneumonia and the other with atelectasis. R0 resection was achieved in six patients and R1 resection was achieved in the other patient. According to postoperative pathology, there were one microcyst subtype, one adenoid subtye, one giant capsule subtype and two hybrid subtypes. Surprisingly, there were no yolk sac tumor tissue in the other two patients after preoperative chemotherapy. All the patients received postoperative chemotherapy, excluded one patient who was unable to tolerate chemotherapy after operation. Three patients experienced postoperative pulmonary metastases within one year and two of them died soon. The other patient received chemotherapy and immunotherapy after recurrence and he was alive at the time of writing. Four other patients were alive without recurrence and metastasis.@*CONCLUSION@#Primary mediastinal yolk sac tumor is rare and its prognosis is poor. A multimodality approach including adjuvant chemotherapy and resection of residual lesions is the optimal treatment and it may lead to long-term survival.

Primary Pelvic Peritoneal Yolk Sac Tumor in the Post-Pubertal Female: a Case Report with Literature Review

Yolk sac tumors are rare malignant germ cell neoplasms that usually arise from the gonads. Extragonadal yolk sac tumors (EGYSTs) frequently occur in the mediastinum in post-pubertal females. EGYSTs in the pelvis are extremely rare, and to date, only thirteen cases have been reported in the English literature. Among them, the primary EGYST of the pelvic peritoneum in post-pubertal females has only been reported in ten cases. The present case describes a 26-year-old female diagnosed with primary peritoneal yolk sac tumor located in the rectouterine pouch. We report clinical and tumor imaging features, including ultrasound, computed tomography (CT), magnetic resonance images (MRI), positron emission tomography-computed tomography (PET-CT), and present a review of the literature.

Tumor ovárico del seno endodérmico (Yolk Sac). Dolor abdominal en el puerperio inmediato como síntoma diagnóstico / Endodermal sinus ovarian tumor (Yolk Sac). Abdominal pain in the immediate puerperium as a diagnostic symptom

RESUMEN Los tumores del seno endodérmico ovárico (Yolk Sac), son neoplasias malignas de origen germinal, que se caracterizan por su diferenciación embriológica a partir de estructuras del saco vitelino. Son tumoraciones muy infrecuentes, de crecimiento rápido y que suelen desarrollarse en adolescentes y mujeres jóvenes, en edad reproductiva. Su diagnóstico se basa en la combinación de pruebas de imagen asociado a niveles plasmáticos elevados de marcadores tumorales como la alfafetoproteína. El manejo terapéutico es eminentemente quirúrgico (pudiendo ser conservador en pacientes con deseo genésico no cumplido), asociado a pautas de quimioterapia sistémica combinada con bleomicina, etopósido y platino. Exponemos el caso de una paciente que en el puerperio tardío, presenta un cuadro clínico de dolor, distensión abdominal y fiebre, siendo diagnosticada tras el tratamiento quirúrgico y el estudio histológico posterior, de un tumor del seno endodérmico ovárico.

ABSTRACT Ovarian endodermal sinus tumors (Yolk Sac), are malignant neoplasms of germinal origin, which are characterized by their embryological differentiation from yolk sac structures. These tumors are very infrequent, of rapid growth and tend to develop in adolescents and young women of reproductive age. Its diagnosis is based on the combination of imaging tests associated with high plasma levels of tumor markers such as alpha-fetoprotein. The therapeutic management is eminently surgical (with a more conservative approach reserved for patients still considering later pregnancy), associated with patterns of systemic chemotherapy combined with bleomycin, etoposide and platinum. We present the case of a patient who, in the late puerperium, presents symptoms of pain, abdominal distension and fever, being diagnosed after the surgical treatment and the subsequent histological study of a tumor of the endodermal ovarian sinus.

Yolk Sac Tumor of the Temporal Lobe: Case Report

Germ cell tumors of the central nervous system (CNS) are usually located along the midline. Yolk sac tumor is a rare germ cell tumor very uncommonly located outside the midline, and, in such cases, it can be mistaken with other primary tumors. We report a case of a 32-year-old male patient who presented with a right temporal lobe tumor suggestive of a high grade glioma. He was submitted to a right temporal lobectomy with complete tumor removal. The histological exam revealed a germ cell tumor (later confirmed to be a yolk sac tumor). The search for a primary tumor outside of the CNS (including a positron emission tomography scan) was negative, making this a primary temporal lobe yolk sac tumor. The patient was submitted to chemotherapy and radiotherapy, but died 7 months after the surgery.

Yolk sac primary tumor of mediastino: a rare case in a young adult / Tumor de saco vitelínico primário do mediastino: raro caso em um adulto jovem

ABSTRACT Germ cell tumors are rare neoplasms that mostly occur in the gonads, although they can also affect other body sites, especially the anterior mediastinum (50 to 70% of all extragonadal germ cell tumors). We report a case of a primary mediastinal yolk sac tumor, a rare and aggressive germ cell tumors subtype. This was a 38-year-old man who was admitted to Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", complaining about dyspnea and dry cough for 1 year. The computed tomography scan of his chest revealed a large mass in the anterior mediastinum with heterogeneous enhancement to the contrast associated with pleural effusion. There were also high serum levels of alpha-fetoprotein. After neoadjuvant chemotherapy, the patient underwent surgical resection of the mass, followed by pathological examination, which confirmed a primary mediastinal yolk sac tumor, a nonseminomatous subtype of germ cell tumors. Primary mediastinal yolk sac tumors have poor prognosis, despite advances in therapy with surgical resection and cisplatin-based chemotherapy. This poor prognosis is due to the degree of invasion and unresectability in most patients by the time of the diagnosis.

RESUMO Os tumores de células germinativas são neoplasias raras que acometem mais frequentemente as gônadas, embora possam também ocorrer em outras localizações do corpo, destacando-se o mediastino anterior (50 a 70% de todos os tumores de células germinativas extragonadais). No presente artigo, relatamos um caso de tumor de saco vitelínico mediastinal primário, de subtipo raro e agressivo de tumor de células germinativas. Tratava-se de um homem, 38 anos, admitido no Hospital do Servidor Público Estadual "Francisco Morato de Oliveira", com quadro de dispneia e tosse seca há 1 ano. Na investigação clínica, foi solicitada tomografia computadorizada de tórax, que mostrou volumosa massa no mediastino anterior com realce heterogêneo ao meio de contraste associada a derrame pleural. Havia ainda aumento dos níveis séricos da alfafetoproteína. Após quimioterapia neoadjuvante pré-operatória, o paciente foi submetido à ressecção cirúrgica, seguida de estudo anatomopatológico da peça, no qual demonstrou tratar-se de um tumor de saco vitelínico primário do mediastino. Os tumores de saco vitelínicos primários do mediastino têm prognóstico reservado, apesar do avanço na terapêutica com a ressecção cirúrgica e a quimioterapia à base de cisplatina. Isto se deve ao grau de invasão e de irressecabilidade na maioria dos pacientes no momento do diagnóstico.

Cytologic Characteristics of Thymic Adenocarcinoma with Enteric Differentiation: A Study of Four Fine-Needle Aspiration Specimens

Thymic adenocarcinoma is extremely rare. Although its histologic features have been occasionally reported, a lack of description of the cytologic features has hampered the prompt and accurate diagnosis of this condition. Herein, we describe the cytologic findings and histology of four aspiration cytology specimens of thymic adenocarcinoma. The specimens were obtained from primary tumors, metastatic lymph nodes, and pericardial effusions. All four specimens showed three-dimensional glandular clusters with a loss of polarity and nuclear overlapping. One specimen had extensive extracellular mucinous material. Three specimens contained tumor cells with intracytoplasmic vacuoles. While the specimen with extracellular mucin showed relatively mild cytologic atypia, other specimens exhibited more atypical cytologic changes: irregular nuclear membranes, a coarse chromatin pattern, and prominent nucleoli. The cytologic features were correlated with the histologic features in each case of enteric type thymic adenocarcinoma. The differential diagnosis included other thymic carcinomas, yolk sac tumors, and metastatic adenocarcinoma from the lung or colorectum.

Tumor del Seno Endodérmico: a propósito de un caso / Endodermal Sinus Tumor: About a case

Paciente masculino de 27 años, tabaquista de 5 pack/yeasr. Consulta porque presenta dolor torácico. No refiere otra sintomatología acompañante. Niega poseer otros antecedentes. Se realiza radiografía de tórax frente, la cual evidencia formación redondeada de contornos netos radiopaca ubicación parahiliar izquierdo, que muestra signo de la silueta

A case report for primary yolk sac tumor of endometrium / 中南大学学报(医学版)

A case of primary yolk sac tumor of endometrium was retrospectively analyzed and relevant literature was systematically reviewed. We found that the primary yolk sac tumor of endometrium showed low incidence rate and was clinically characterized by abnormal vaginal bleeding, intrauterine lesions and significantly elevated alpha-fetoprotein (AFP) level. The final diagnosis should be confirmed by pathological examination. There is no guideline for the treatment of primary yolk sac tumor of endometrium due to its rareness. For now, surgery and chemotherapy are the major therapies and the curative effect is satisfactory in some cases.

A case report on ovotesticular disorder of sexual development 46, XY with malignant mixed germ cell tumor (yolk sac tumor, dysgerminoma, mature cystic teratoma) / Philippine Journal of Obstetrics and Gynecology

This paper reports a case of a 19 year-old born with ambiguous genitalia, who presented with abdominopelvic mass diagnosed to have Ovotesticular Disorder of Sexual Development (OT-DSD) 46, XY with Malignant Mixed Germ Cell Tumor (Yolk Sac Tumor, Dysgerminoma, Mature Cystic Teratoma,). She underwent two surgeries and had gone through six cycles of Vincristine, Dactinomycin and Cyclophosphamide chemotherapy. OT-DSD is a rare condition by the presence of both histologically proven testis and ovary in the same individual. The report describes the clinical, biochemical, imaging, and histopathologic findings and outcomes of OT-DSD complicated with gonadal tumor. Diagnostic work up, pre-operative preparations, intra operative management, post-operative follow up and chemotherapy along with psychiatric support for gender identity and assignment are discussed. This paper emphasizes the importance of multidisciplinary effort from the different fields of medicine namely reproductive endocrinology, gynecologic oncology, surgery, psychiatry, and anesthesiology.

Treatments of stage-Is testicular mixed germ cell tumors: A report of 3 cases / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate different treatment methods for stage-Is testicular mixed germ cell tumors (TMGCTs).</p><p><b>METHODS</b>We retrospectively analyzed the clinical data about 3'cases of stage-Is TMGCTs (aged 26-39 years) treated in the 175th Hospital of PLA, reviewed relevant literature, and explored the clinical characteristics of TMGCTs.</p><p><b>RESULTS</b>Of the 3 patients, 1 was treated by radical orchiectomy, 1 by radical orchiectomy + retroperitoneal lymph node dissection + BEP chemotherapy scheme, and the other by radical orchiectomy + radiotherapy. The pathological components of TMGCTs were immature teratoma, seminoma, spermatocytoma, chorioepithelioma, embryonal carcinoma, and yolk sac tumor. No recurrence or distant metastasis was found during the 24-month follow-up after surgery.</p><p><b>CONCLUSION</b>The diagnosis of TMGCTs primarily depends on physical examination, ultrasonography, MRI, and measurement of serum tumor markers, while its confirmation necessitates pathological examination, and its treatment is basically radical orchiectomy.</p>

Diagnostic value of immunohistochemistry and FISH for chromosome 12p in type Ⅱ testicular germ cell tumors / 中华男科学杂志

<p><b>Objective</b>To study the pathological morphology, immunohistochemical characteristics, and molecular changes of type Ⅱ testicular germ cell tumors (TGCT) and investigate the possible value of immunohistochemistry and fluorescence in situ hybridization (FISH) in the diagnosis of TGCT.</p><p><b>METHODS</b>We collected for this study 97 cases of TGCT, including 75 cases of seminoma, 17 cases of embryonal carcinoma, 11 cases of yolk sac tumor, 16 cases of mature teratoma, 3 cases of immature teratoma, and 1 case of epidermoid cyst, in which normal testicular tissue was found in 20 and non-TGCT in 6. We detected the expressions of different antibodies in various subtypes of TGCT by immunohistochemistry and determined the rate of chromosome 12p abnormality using FISH.</p><p><b>RESULTS</b>The immunophenotypes varied with different subtypes of TGCT. SALL4 and PLAP exhibited high sensitivity in all histological subtypes. CD117 and OCT4 showed strongly positive expressions in invasive seminoma and germ cell neoplasia in situ (GCNIS) but not in normal seminiferous tubules. GPC3 was significantly expressed in the yolk sac tumor, superior to GATA3 and AFP in both range and intensity. CKpan, OCT4, and CD30 were extensively expressed in embryonal carcinoma, while HCG expressed in choriocarcinoma. The positivity rate of isochromosome 12p and 12p amplification in TGCT was 96.7% (29/30).</p><p><b>CONCLUSIONS</b>The majority of TGCT can be diagnosed by histological observation, but immunohistochemical staining is crucial for more accurate subtypes and valuable for selection of individualized treatment options and evaluation of prognosis. Chromosome 12p abnormality is a specific molecular alteration in type Ⅱ TGCT, which is useful for ruling out other lesions.</p>

Overview of Pediatric Extracranial Germ Cell Tumors / 임상소아혈액종양

Germ cell tumors the designation given to neoplasm arising from the cells of the germline, the cells that are destined to become either the egg or the sperm. These tumors have a number of unique features that includes bimodal and wide age distribution, remarkable phenotypic diversity, and varying biologic behavior. During infancy, sacrococcygeal locations predominate with either teratomas in neonates or endodermal sinus tumors in infants above three months. After puberty, non-germinomatous germ cell tumors predominate with gonadal, mediastinal or intracranial tumor. Specific subtypes of germ cell tumors secrete proteins as tumor markers. Surgical resection of the tumor is necessary to establish the diagnosis and for staging of the extent of tumor spread. Except for teratoma, germ cell tumors are highly sensitive to chemotherapy in particular cisplatin. The most commonly used chemotherapy regimen for malignant germ cell tumors is PEB (cisplatin, etoposide and bleomycin). Prognosis is good even in metastatic diseases. Patients with relapsed or recurrent disease may be candidates for high dose chemotherapy and autologous hematopoietic stem cell transplantation.

Histological features of tumor-bearing tissues formed by human fibroblasts after reprograming by Piwil2 / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To observe the histological features of tumor-bearing tissues formed by human fibroblasts after reprograming by spermatogonial stem cell self-renewal key regulating gene Piwil2 (Piwil2-iCSC).</p><p><b>METHODS</b>Piwil2-iCSC tumor spheroids-like colonies were selected for tumor formation assay in four nude mice. Pathological features of Piwil2-iCSC tumors were observed by histology. Stem cell markers and common triploblastic markers were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) assay and immunohistochemistry. Germ cell tumor markers were detected by immunohistochemical examination.</p><p><b>RESULTS</b>Two weeks after inoculation, subcutaneous tumors were formed in all the four nude mice with a tumor formation rate of 100%. In the Piwil2-iCSC tumor tissues, Piwil2-GFP(+) cells showed high-density nuclear expression and were widely observed in DAPI-stained sections. Numerous mitotic figure of the neoplastic cells were seen (>10 cells/field of vision under high magnification) in HE-stained sections. Enlarged abnormal cell nuclei were observed. RT-PCR assay showed that Piwil2-iCSC tumors still expressed Piwil2 and some self-renewal and pluripotent markers of stem cells and some markers of triploblastic differentiation. Immunohistochemical staining showed that the tumors expressed stem cell markers, triploblastic markers and germ cell tumor markers AFP and HCG.</p><p><b>CONCLUSIONS</b>Piwil2-iCSC tumors are probably undifferentiated embryonic small cell carcinoma, most likely to be immature teratoma, mixed with yolk sac tumor and choriocarcinoma components. It can be used as a useful model for the research of origin or genesis mechanism of cancer stem cells and the treatment of relevant tumors.</p>

Overview of Pediatric Extracranial Germ Cell Tumors / 임상소아혈액종양

Germ cell tumors the designation given to neoplasm arising from the cells of the germline, the cells that are destined to become either the egg or the sperm. These tumors have a number of unique features that includes bimodal and wide age distribution, remarkable phenotypic diversity, and varying biologic behavior. During infancy, sacrococcygeal locations predominate with either teratomas in neonates or endodermal sinus tumors in infants above three months. After puberty, non-germinomatous germ cell tumors predominate with gonadal, mediastinal or intracranial tumor. Specific subtypes of germ cell tumors secrete proteins as tumor markers. Surgical resection of the tumor is necessary to establish the diagnosis and for staging of the extent of tumor spread. Except for teratoma, germ cell tumors are highly sensitive to chemotherapy in particular cisplatin. The most commonly used chemotherapy regimen for malignant germ cell tumors is PEB (cisplatin, etoposide and bleomycin). Prognosis is good even in metastatic diseases. Patients with relapsed or recurrent disease may be candidates for high dose chemotherapy and autologous hematopoietic stem cell transplantation.