The value of CXorf67 and H3K27me3 for diagnosing germ cell tumors in central nervous system / 中华病理学杂志

Objective: To investigate immunohistochemical patterns of CXorf67 and H3K27me3 proteins in central nervous system germ cell tumors (GCTs) and to assess their values in both diagnosis and differential diagnosis. Methods: A total of 370 cases of central nervous system GCTs were collected from 2013 to 2020 at Huashan Hospital of Fudan University, Shanghai, China. The expression of CXorf67, H3K27me3 and commonly-used GCT markers including OCT4, PLAP, CD117, D2-40, and CD30 by immunohistochemistry (EnVision method) was examined in different subtypes of central nervous system GCTs. The sensitivity and specificity of each marker were compared by contingency table and area under receiver operating characteristic (ROC) curve. Results: Of the 370 cases there were 282 males and 88 females with a mean age of 19 years and a median age of 17 years (range, 2-57 years). Among the GCTs with germinoma, the proportions of male patients and the patients with GCT located in sellar region were both higher than those of GCTs without germinoma (P<0.05), respectively. CXorf67 was present in the nuclei of germinoma and normal germ cells, but not in other subtypes of GCT. H3K27me3 was negative in germinoma, but positive in the nuclei of surrounding normal cells and GCTs other than germinoma. In the 283 GCTs with germinoma components, the expression rate of CXorf67 was 90.5% (256/283), but no cases were positive for H3K27me3. There was also an inverse correlation between them (r2=-0.831, P<0.01). The expression rates of PLAP, OCT4, CD117 and D2-40 were 81.2% (231/283), 89.4% (253/283), 73.9% (209/283) and 88.3% (250/283), respectively. In 63 mixed GCTs with germinoma components, the expression rate of CXorf67 was 84.1% (53/63), while all cases were negative for H3K27me3. The expression rates of PLAP, OCT4, CD117 and D2-40 were 79.4% (50/63), 79.4% (50/63), 66.7% (42/63) and 87.3% (55/63), respectively. The 6 markers with largest area under ROC curve in ranking order were H3K27me3, CXorf67, D2-40, OCT4, PLAP and CD117 (P<0.05). Conclusions: CXorf67 and H3K27me3 have high sensitivity and high specificity in diagnosing germinoma. There is a significant inverse correlation between them. Therefore, they can both be used as new specific immunohistochemical markers for the diagnosis of GCTs.

Clinical analysis of 30 cases of basal ganglia germinoma in children / 北京大学学报(医学版)

OBJECTIVE@#To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis.@*METHODS@#The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma.@*RESULTS@#A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement.@*CONCLUSION@#The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.

An intrasellar germinoma with normal tumor marker concentrations mimicking primary lymphocytic hypophysitis / Germinoma intrasselar com marcadores tumorais normais mimetizando hipofisite linfocítica primária

Intracranial germinomas (GE) are malignant neoplasms most commonly found in the suprasellar region, which may cause anterior and particularly posterior pituitary hormone deficits with central diabetes insipidus (DI). Differential diagnosis of pituitary stalk thickening includes granulomatous, inflammatory, infectious, and neoplastic lesions. Although careful analysis of clinical, laboratory, and imaging findings may facilitate the diagnosis, transsphenoidal biopsy is indicated to confirm the disease, as the correct diagnosis directs the appropriate treatment.

Germinomas intracranianos (GE) são neoplasias malignas comumente na região suprasselar, podendo causar deficiência hormonal da hipófise anterior, em particular da hipófise posterior, com diabetes insípido central (DI). Entre os diagnósticos diferenciais do espessamento de haste hipofisária, incluem-se doenças granulomatosas, inflamatórias, infecciosas e neoplásicas. Embora as avaliações clínica, laboratorial e a ressonância magnética selar sugiram o diagnóstico, a biópsia transesfenoidal está indicada para confirmação, visto que o diagnóstico correto direciona o tratamento.

Tumores de células germinativas intracranianos na infância: avaliação de 14 casos / Primary intracranial germ cell tumors in children: evaluation of fourteen cases

This study evaluates the diagnosis, therapy and survival of 14 patients with primary intracranial germ cell tumors during the period from 1991 to 2001. There were 11 males and 3 females. Mean age was 12.2 years old (20 days-18 years). On admission, the most common symptoms were headache (10/14), vomiting (6/14) and visual (6/14). The tumor was in pineal and hypothalamic region in 10 cases, suprasellar in 3 cases, and in the cerebral parenchyma in 1 case. Histologically there were 1 embryonal carcinoma, 5 germinomas, 2 mature teratomas, 1 immature teratoma and 5 mixed germ cell tumors. Treatment differed among the patients according to the type of tumor. Three patients died after tumor progression or relapse and one patient died from another condition. The remaining patients are alive and without disease.

Este estudo avalia o diagnóstico, a terapia e a sobrevida de 14 pacientes com tumor de células germinativas intracraniano durante o período entre 1991 e 2001. Onze pacientes eram do sexo masculino e três do feminino. A média de idade do grupo foi 12,5 anos (20 dias-18 anos). Na admissão, os mais comuns sintomas foram cefaléia (10/14), vômitos (6/14) e visuais (6/14). Os tumores estavam localizados em região hipotalâmica/hipofisária em 10 casos, suprasselar em 3 casos e intraparenquimatosa em 1 caso. Histologicamente, havia 1 caso de carcinoma embrionário, 5 de germinomas, 2 de teratoma maduro, 1 de teratoma imaturo e 5 de tumores mistos. O tratamento foi variável, dependendo da histologia da lesão. Três pacientes morreram após a progressão tumoral ou recidiva e um paciente morreu devido causa não relacionada ao tumor. Os demais estão vivos e sem doença.

Post-cheotherapy residual mass in non-siinomatous testicular cancer: the role of retroperitoneal lymph node dissection

PURPOSE: to determine the role of RPLND for residual masses following chiotherapy in patients with non-siinomatous germ cell tumors (NSGCT) stage T1N2 and T1N3 (IIB and IIC). MATERIALS AND METHODS: We have preformed retrospective analysis of 11 patients who underwent RPLND for residual masses following chiotherapy in an oncologic reference center between January 1997 and Deciber 2002. All patients harbored either pure nonsiinomatous or mixed tumors in the testis tissue and had undergone 4 cycles of primary chiotherapy with bleomycin, etoposide and cisplatin. The residual masses were assessed by abdominal computed tomography preoperatively. RESULTS: There were perioperative complications in 3 cases owing to vascular iatrogenic lesion. One of who died in the early postoperative period due to extensive iliac thrombosis. The other 2 patients had an inferior vena cava injury owing to the difficulty in rioving the attached lymph nodes. The injuries were repaired by continuous suture with Prolene 5-0. All patients had tumors in the final pathological report and were referred to other 2 cycles of chiotherapy with the same drugs. Seven patients (63.3 percent) had complete response and riained free of the disease in a mean follow up of 38.3 months (ranging from 12 to 72). The riaining 3 patients had disease progression, 2 of which died 6 and 12 months after surgery, respectively, and one patient missed the follow-up after salvage chiotherapy. CONCLUSION: Retroperitoneal lymph node dissection for residual masses after chiotherapy is a high-morbidity procedure, even by experienced surgeons, although it riains an efficient modality of treatment in advanced germ cell carcinoma. The high frequency of tumor found in the RPLFN following chiotherapy might have been caused by the small number of patients in this study.

Primary mixed germ cell tumour of the liver--a case report.

Germ cell tumours in liver are uncommon. Fewer than 20 cases have been reported in the literature. Primary mixed malignant germ cell tumours of liver are even rare. Here we describe a case of primary mixed malignant germ cell tumour of left lobe of liver in a two and half year old male boy. This is the first reported case of primary mixed malignant germ cell tumour with components of yolk sac tumour and mature teratoma in an infant. The patient complained of gradual increase in abdominal distension, upper abdominal pain and loss of weight. Ultrasonography and computed tomography of the abdomen revealed a large hepatic mass. Serum alpha-feto protein levels were raised. Left lobectomy of liver was done and chemotherapy was initiated. Histopathology of specimen disclosed yolk sac tumour and mature teratoma. Levels of serum alpha-feto protein declined rapidly. Widespread intrahepatic metastasis developed and patient died due to liver dysfunction after six months of left lobectomy.

Ovarian tumours: a study of 282 cases.

Histologically 282 ovarian tumours were studied, of these 212 (75.2%) were benign, 8 (2.8%) of borderline malignancy and 62 (21.9%) were malignant. The tumours were classified according to WHO classification. Epithelial tumours were the commonest variety constituting 70.9% of all the ovarian tumours followed by germ cell tumours (21.2%), sex cord stromal tumours (6.7%) and metastatic tumours (0.7%). Among the individual tumours, serous tumours (42.9%) were the commonest, followed by mucinous tumours (25.5%), teratomas (17%), granulosa cell tumours (6.7%), dysgerminomas (2.48%) and endodermal sinus tumours (1.77%). Two cases (0.7%) of endometrioid carcinomas and one case (0.35%) of clear cell carcinoma were encountered. Ovarian tumours were found to occur in the age range of 8 months to 74 years. Peak incidence was between 21 and 40 years age group.

Bone marrow involvement in a primary mediastinal extragonadal non-seminomatous germ cell tumour.

A case of primary mediastinal extragonadal germ cell tumour with involvement of bone marrow, a rare finding, is reported with a review of literature.

Suprasellar malignant mixed germ cell tumour presenting as craniopharyngioma.

A 15 year old boy presented with diminution in vision of both eyes, diabetes insipidus and hypopituitarism. MRI was suggestive of a large suprasellar and retrosellar craniopharyngioma with stretching of the optic chiasma. Histopathological findings on the first surgical specimen were interpreted as a craniopharyngioma. He was reoperated on account of clinical deterioration and increase in tumour size. Histological examination this time revealed derivatives of all three germ cell lineages along with areas of embryonal carcinoma, and yolk sac tumour besides squamous cysts, establishing the diagnosis of malignant mixed germ cell tumour. Serum and CSF were strongly positive for alpha foetoproteins.

Germinoma localizado nos núcleos da base e tálamo com invasäo do tronco cerebral: relato de caso / Germinoma localizated in basal ganglia and thalamus with brain stem invasion: case report

Descrevemos o caso de um paciente com diagnóstico de germinoma nos núcleos da base e tálamo, com invasao do tronco cerebral, ressaltando as características observadas nos exames de tomografia computadorizada e de ressonância magnética, os possíveis diagnósticos diferenciais, e a necessidade da comprovaçao anátomo-patológica, por tratar-se de localizaçao pouco frequente de um tumor com possibilidade de evoluçao favorável após tratamento com quimio e radioterapia.

Pseudohermafroditismo femenino. Tumor de células germinales de ovario, mixto: presentación de un caso / Female pseudohermaphroditism. Mixed germinal coll ovarian tumor: one case presentation

Se conoce como Pseudohermafroditismo o estado intersexual a las entidades en las que el aspecto de los genitales externos es ambiguo o está en desacuerdo con el sexo cromosómico gonadal o genético y, puede tener etiologías diversas. La exposición continua a estrógenos o a andrógenos puede inducir dismorfismo femenino así como el desarrollo de tumor es benignos y o malignos en los órganos blancos. Se presenta el caso de una joven de 15 años con virilización, que acude a consulta médica por presentar tumor de crecimiento progresivo en abdomen. La presencia de genitales ambiguos desde su nacimiento no había sido motivo de consulta previa. El diagnóstico, hallazgos, manejo y seguimiento en cuatro meses son descritos, así como la revisión del tema

Germinoma da glândula pineal / Pineal gland germinoma

Os autores apresentam um caso de germinoma da glândula pineal tratado por remoçao cirúrgica e radioterapia. Os tumores da pineal ocupam um segmento relativamente pequeno, aproximadamente 0,5 por cento dos tumores intracranianos. Sao discutidas as características clínicas, patológicas e cirúrgicas e tratamento complementar com radioterapia.

Disseminated form of an intracranial germinoma: report of one case

The authors report a case of a suprasellar germinoma with a diffusely involvement of the ventricular system. The proper diagnostic and therapeutic procedures for the management of this lesion are also discussed.