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.

Treatment outcome of a β-hCG Secreting Intracranial Germ Cell Tumorin an adult Filipino using definitive Chemotherapy followed by Radiotherapy: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#We report a case of a 24-year-old Filipino male who complained of general weakness, polydipsia, weight loss, bitemporal headaches, loss of libido and behavioral changes. Endocrine work-up revealed neurogenic diabetes insipidus and panhypopituitarism. Brain MRI showed multiple intracranial tumors in the left frontal lobe, pineal and suprasellar region with moderate non-communicating hydrocephalus. Intracranial mass biopsy with ventriculo-peritoneal shunting was done. Histopathology of the mass and CSF revealed a germinoma. He underwent chemoradiotherapy while on maintenance hormone replacement.

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.

Germinoma en un paciente con emaciación y retraso de crecimiento. A propósito de un caso / Germinoma in a patient with emaciation and growth retardation. Case report

Los tumores del sistema nervioso central representan la segunda enfermedad oncológica más habitual en niños y adolescentes. Entre los tumores intracraneales, los de células germinales son infrecuentes. Los síntomas que desencadenan son cefalea, náuseas, vómitos, déficits hormonales, alteraciones visuales, pérdida de peso, pobre crecimiento y pubertad precoz. Menos frecuentemente, producen trastornos del movimiento o psiquiátricos. Algunos de estos tumores pueden ser asintomáticos un largo período, lo que desencadena un diagnóstico tardío.Se presenta a una paciente femenina de 14 años con pérdida de peso y falla del crecimiento, con diagnóstico erróneo de trastorno de la conducta alimentaria. Tras estudios pertinentes, se arribó al diagnóstico de germinoma del sistema nervioso central. Al ser esta patología infrecuente y de presentación variable, requiere alto sentido de alerta por parte de la familia involucrada y del equipo de salud para evitar retrasos en el diagnóstico y el tratamiento

Central nervous system tumors are the second most frequent oncological disease among children and teenagers. Among the intracranial tumors, the germ cells ones are infrequent. The symptoms they cause are headaches, nausea and vomiting, hormonal deficits, visual disturbances, weight loss, poor growth and early puberty. Less frequently, they produce movement or psychiatric disorders. Some of these tumors can be asymptomatic for a long period leading to a late diagnosis.The case of a 14-year-old female patient is presented. She showed weight loss and growth failure, with wrong diagnosis of eating disorder. After proper study methods, we arrived to central nervous system germinoma diagnosis. Because this pathology is rare and has a variable form of presentation, it requires that the family involved and the health team to be alert, to avoid delays in diagnosis and treatment.

Pan-hipopituitarismo de surgimento na infância e diagnóstico diferencial de poliúria / Childhood-onset panhypopituitarism and differential diagnosis of polyuria

RESUMO: O hipopituitarismo é a deficiência de dois ou mais hormônios hipofisários, que se expressa por sintomas dependentes do tipo e grau de déficit hormonal. A adequada condução destes pacientes é de fundamental importância para que não acarrete atraso no crescimento e desenvolvimento, óbito ou mudanças na qualidade de vida dos indivíduos. Objetiva-se, neste estudo, relatar caso clínico de abordagem de paciente pediátrico com pan-hipopituitarismo e descrever o manejo adotado, bem como a importância do acompanhamento pelo endocrinologista pediátrico. Trata-se de paciente do sexo masculino, 14 anos, com pan-hipopituitarismo iniciado na infância, secundário ao surgimento de germinoma e ao tratamento realizado para o mesmo. A primeira deficiência hormonal apresentada foi diabetes insipidus, seguida, após a realização de quimioterapia e radioterapia, de múltiplas deficiências. O menor segue em acompanhamento especializado, e faz uso de levotiroxina, desmopressina, somatropina, testosterona e prednisolona. A partir do presente relato, percebe-se a importância do diagnóstico oportuno e da adequada abordagem da criança com pan-hipopituitarismo e de seu seguimento a fim de se manter uma qualidade de vida satisfatória. (AU)

ABSTRACT: Hypopituitarism is the deficiency of two or more pituitary hormones. Its symptoms depend on the type and degree of hormonal deficit. Proper care of these patients is of fundamental importance to avoid delay in growth and development, death, or changes in the quality of life. The objective of this study is to report a clinical case of a pediatric patient with pan-hypopituitarism and describe the care adopted, as well as the importance of monitoring by the pediatric endocrinologist. The patient was a 14-year-old boy, with pan-hypopituitarism beginning in childhood, secondary to the appearance of germinoma and the treatment performed for it. The first hormonal deficiency presented was diabetes insipidus, followed by multiple deficiencies after chemotherapy and radiotherapy. The patient is under specialized monitoring and takes levothyroxine, desmopressin, somatropin, testosterone, and prednisolone. From the present report, timely diagnosis and adequate approach to a child with pan-hypopituitarism and its follow-up are important to maintain a satisfactory quality of life. (AU)

CNS germinoma with extensive calcification: An unusual histologic finding

@#Introduction: Intratumoral calcification is a feature that is more often observed in pineal parenchymal tumour than germinoma. We describe a 13-year-old male with pineal region germinoma demonstrating extensive intratumoral calcification. Case report: He presented with worsening headache that was associated with fatigue, nausea and vomiting. Radiologic examination revealed a multilobular mass in the pineal region with internal calcifications. Biopsy showed a pure germinoma with unusually extensive calcification. Discussion: Although a diagnosis may be suggested with a careful evaluation of imaging, there is no pathognomonic pattern. Thus, histologic verification is necessary for most pineal region masses.

Pineal and Suprasellar Germinoma Cooccurence with Vertebra Plana: A Case Report

Germinoma is the most common type of intracranial germ cell tumors (GCTs). Pineal gland and suprasellar region are the most frequent sites of central nervous system (CNS) involvement. Intracranial masses caused by Langerhans cell histiocytosis (LCH) mimics features of CNS GCTs. LCH frequently involve spine and is the most common cause of vertebra plana in children. A 15-year-old boy presented with progressing symptoms of polydipsia, polyuria, general headache, nausea and severe back pain. Brain MRI showed brain tumor with simultaneous involvement of suprasellar region and pineal gland. An excisional biopsy of suprasellar mass was done. The pathologic assessment confirmed the diagnosis of germinoma. Patient's treatment continued accordingly. A spine MRI, done due to persistent backache, showed a vertebra plana. We reevaluated the primary diagnosis suspecting LCH. Germinoma of CNS was confirmed and a biopsy of vertebral lesion resulted in hemangioma. Thus we report a case of CNS germinoma with co-occurrence of vertebra plana. We emphasized the importance of histopathologic diagnosis of pineal/suprasellar masses and primary investigation of other CNS regions including spine for possible metastasis or comorbidities.

A Rare Case of Primary Spinal Cord Germinoma Treated with Single Radiation Therapy after Surgery / 대한내과학회지

A 32-year old male came to our hospital with chief complaint of paraplegia. He had symptom of radiating pain to right leg 3 months ago before paraplegic symptom appeared. Magnetic resonance (MR) imaging from outside hospital showed intramedullary mass involving from T8 to T10 level of spinal cord. According to the imaging result, tumor removal with total laminectomy was performed between T8 and T10 level in our hospital. Pathologic result was compatible with germinoma. Spine radiation (39.6 Gy/22 fx) from T7 to T12 level without chemotherapy was performed 3 weeks later since tumor removal. Follow-up MR imaging showed no recurrence without any distant metastasis. And our patient's neurologic symptom had been improved. According to this case, postoperative radiotherapy is thought to be effective to primary spinal germinoma.

Intracranial Germ Cell Tumor in the Molecular Era

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.

Intracranial Germ Cell Tumor in the Molecular Era

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.

Nationwide Population-Based Incidence and Survival Rates of Malignant Central Nervous System Germ Cell Tumors in Korea, 2005-2012 / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Malignant central nervous system (CNS) germ cell tumors (GCTs), although rare, are thought to occur more frequently among Asians. However, a recent population-based study revealed no differences in GCT incidence between Asians and Caucasians. Therefore, this study was conducted to determine the incidence and survival rates of CNS GCTs using the national cancer incidence database, and to compare these rates to those in the United States and Japan. MATERIALS AND METHODS: We extracted CNS GCT patients diagnosed between 2005 and 2012 from the Korea Central Cancer Registry database. Age-standardized rates (ASRs), annual percentage change, and the male-female incidence rate ratios (IRRs) were calculated. To estimate the survival rate, we used data for patients diagnosed between 2005 and 2010 and followed their cases until December 31, 2013. RESULTS: The ASR for CNS GCT between 2005 and 2012 was 0.179 per 100,000 (95% confidence interval, 0.166 to 0.193), with an overall male-to-female (M:F) IRR of 2.95:1. However, when stratified by site, the M:F IRR was 13.62:1 for tumors of the pineal region and 1.87:1 for those located in nonpineal regions. The most frequent histologic type was germinoma (76.0%), and the most frequent location was the suprasellar region (48.5%). The 5-year survival rate of germinoma patients was 95.3%. CONCLUSION: The incidence rate of CNS GCTs in Korea during 2005-2012 was 0.179 per 100,000, which was similar to that of the Asian/Pacific Islander subpopulation in the United States. Moreover, the CNS GCT survival rate in Korea was similar to rates in Japan and the United States.

A Case of Langerhans Cell Histiocytosis Manifested as a Suprasellar Mass

Langerhans cell histiocytosis (LCH) has diverse clinical manifestations, including intracranial mass lesions. We report a case of LCH that manifested as a suprasellar mass, and initially misdiagnosed as a germ cell tumor. A 29-year-old woman presented with polyuria, polydipsia and amenorrhea. Laboratory findings revealed hypopituitarism with central diabetes insipidus, and a suprasellar mass and a pineal mass were observed on magnetic resonance imaging. Under the clinical impression of a germ cell tumor, the patient was treated with germ cell tumor chemotherapy (cisplatin and etoposide) and radiation therapy without biopsy. After initial shrinkage of the lesions, further growth of the tumor was observed and a biopsy was performed. The histopathology revealed LCH. After chemotherapy according to the LCH III protocol, the tumor disappeared. She is on regular follow up for 5 years without relapse. The present findings indicate that LCH should be included in the differential diagnosis of a suprasellar mass, even in adults, especially when it manifests with diabetes insipidus. This case also underscores the importance of a histopathologic diagnosis in patients with suprasellar tumors before the initiation of a specific therapy, even if the clinical findings are highly suggestive of a specific diagnosis.

A Case of Langerhans Cell Histiocytosis Manifested as a Suprasellar Mass

Langerhans cell histiocytosis (LCH) has diverse clinical manifestations, including intracranial mass lesions. We report a case of LCH that manifested as a suprasellar mass, and initially misdiagnosed as a germ cell tumor. A 29-year-old woman presented with polyuria, polydipsia and amenorrhea. Laboratory findings revealed hypopituitarism with central diabetes insipidus, and a suprasellar mass and a pineal mass were observed on magnetic resonance imaging. Under the clinical impression of a germ cell tumor, the patient was treated with germ cell tumor chemotherapy (cisplatin and etoposide) and radiation therapy without biopsy. After initial shrinkage of the lesions, further growth of the tumor was observed and a biopsy was performed. The histopathology revealed LCH. After chemotherapy according to the LCH III protocol, the tumor disappeared. She is on regular follow up for 5 years without relapse. The present findings indicate that LCH should be included in the differential diagnosis of a suprasellar mass, even in adults, especially when it manifests with diabetes insipidus. This case also underscores the importance of a histopathologic diagnosis in patients with suprasellar tumors before the initiation of a specific therapy, even if the clinical findings are highly suggestive of a specific diagnosis.

Current Trends in Management for Central Nervous System Germ Cell Tumor / 임상소아혈액종양

Central nervous system germ cell tumor is a rare but important tumor in childhood brain tumors. It requires a multidisciplinary approach to increase survival and promote quality of life, and all three treatment modalities including surgery, radiotherapy and chemotherapy has its own distinct role for germ cell tumor. For germinoma, radiotherapy alone can cure the disease but, the effort to limit the long term toxicity and the proper combination of chemotherapy and radiotherapy are under investigation. Craniospinal irradiation is reserved only for the disseminated germinoma or nongerminomatous germ cell tumor (NGGCT). For germinoma, craniospinal irradiation of 20 to 24 Gy is sufficient to control microscopic disease in the spinal axis. Chemotherapy and radiotherapy composed of 30 to 40 Gy of local field radiotherapy and 20 to 24 Gy of whole ventricular irradiation are required for localized germinoma, but the proper combination of two modalities has yet to be defined. For NGGCT, both the chemotherapy and radiotherapy should be performed, and survival rate is substantially increasing with modern treatment protocols. The omission of craniospinal irradiation is being tried for the localized NGGCT in international cooperative group trials. Surgery has its role for the resection of residual disease after the treatment, and the extent of resection in NGGCT has the prognostic implication. Bifocal germ cell tumors and basal ganglia germ cell tumor have distinctive clinical course and mandate special attention. To advance clinical and biological perspectives in central nervous germ cell tumor, the cooperation and communication of the multidisciplinary specialists are essential.

Current Trends in Management for Central Nervous System Germ Cell Tumor / 임상소아혈액종양

Central nervous system germ cell tumor is a rare but important tumor in childhood brain tumors. It requires a multidisciplinary approach to increase survival and promote quality of life, and all three treatment modalities including surgery, radiotherapy and chemotherapy has its own distinct role for germ cell tumor. For germinoma, radiotherapy alone can cure the disease but, the effort to limit the long term toxicity and the proper combination of chemotherapy and radiotherapy are under investigation. Craniospinal irradiation is reserved only for the disseminated germinoma or nongerminomatous germ cell tumor (NGGCT). For germinoma, craniospinal irradiation of 20 to 24 Gy is sufficient to control microscopic disease in the spinal axis. Chemotherapy and radiotherapy composed of 30 to 40 Gy of local field radiotherapy and 20 to 24 Gy of whole ventricular irradiation are required for localized germinoma, but the proper combination of two modalities has yet to be defined. For NGGCT, both the chemotherapy and radiotherapy should be performed, and survival rate is substantially increasing with modern treatment protocols. The omission of craniospinal irradiation is being tried for the localized NGGCT in international cooperative group trials. Surgery has its role for the resection of residual disease after the treatment, and the extent of resection in NGGCT has the prognostic implication. Bifocal germ cell tumors and basal ganglia germ cell tumor have distinctive clinical course and mandate special attention. To advance clinical and biological perspectives in central nervous germ cell tumor, the cooperation and communication of the multidisciplinary specialists are essential.

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.

Understanding the Treatment Strategies of Intracranial Germ Cell Tumors: Focusing on Radiotherapy

Intracranial germ cell tumors (ICGCT) occur in 2-11% of children with brain tumors between 0-19 years of age. For treatment of germinoma, relatively low radiation doses with or without chemotherapy show excellent 10 year survival rate of 80-100%. Past studies showed that neoadjuvant chemotherapy combined with focal radiotherapy resulted in unacceptably high rates of periventricular tumor recurrence. The use of generous radiation volume which covers the whole ventricular space with later boost treatment to primary site is considered as standard treatment of intracranial germinomas. For non-germinomatous germ cell tumors (NGGCT), 10-year overall survival rate is still much inferior than that of intracranial germinoma despite intensive chemotherapy and high-dose radiotherapy. Craniospinal radiotherapy combined with cisplatin-based chemotherapy provides the best treatment outcome for NGGCT; 60-70% of overall survival rate. There is a debate on the surgical role whether surgery can contribute to improved treatment outcome of NGGCT when added to combined chemoradiotherapy. Because higher dose of radiotherapy is required for treatment of NGGCT than for germinoma, it is tested whether whole ventricular irradiation can replace craniospinal irradiation in intermediate risk group of NGGCT to minimize radiation-related late toxicity in the recent studies. To minimize the treatment-related neural deficit and late sequelae while maintaining long-term survival rate of ICGCT patients, optimized administration of chemotherapy and radiotherapy should be selected. Use of technically upgraded radiotherapy modalities such as intensity-modulated radiotherapy or proton beam therapy is expected to bring an improved neurocognitive outcome with longitudinal assessment of the patients.

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.

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.

Recent incidences and trends of childhood malignant solid tumors in Shanghai, 2002-2010 / 中华儿科杂志

<p><b>OBJECTIVE</b>To examine the recent incidences and trends of childhood malignant solid tumors in Shanghai.</p><p><b>METHOD</b>Data from the population-based Shanghai Cancer Registry and related retrospective survey were used to analyze the patterns of incidence and trends of malignant solid tumors diagnosed between 2002 and 2010 in children aged 0-14 years. The distributions of incidences were described according to gender, age and cancer types which were classified according to International Classification of Childhood Cancer (ICCC). Annual age-standardized rates (ASRs) were adjusted by the world standard population. Approximate confidence intervals for standardized rate ratios (SRR) based Poisson distribution test-based methods were used to assess changes in incidence over the period 2002 - 2006 and 2007 - 2010.</p><p><b>RESULT</b>(1)A total of 868 cases of childhood malignant solid tumors were diagnosed in Shanghai during 2002 - 2010, accounting for 65.8% of all childhood cancers. The ASR of 2002 - 2010 was 80.2 per million for all solid tumors. (2) The ASR was higher in boys (86.3 per million) than in girls (73.8 per million) with SRR 1.2 (95%CI 1.0 - 1.3). Incidence rate was the highest in the first five years of life with 93.4 per million. The age-specific incidence rates in 5 - 9 and 10 - 14 age groups were 65.2 and 79.3 per million, respectively. (3) CNS tumors, lymphomas, germ cell tumors, neuroblastoma, and soft tissue sarcomas were the top 5 most common solid tumors in children, with the incidence rate of 23.8, 11.0, 7.8, 7.7 and 6.8 per million, respectively. The patterns of subgroups varied in different age groups. Blastomas, such as neuroblastoma, retinoblastoma, were more common in the children aged 0 - 4 years, whereas epithelial carcinomas and bone tumors developed more frequently in elder children aged 10 - 14 years. (4) Compared with the ASR in 2002 - 2006, the ASR for both genders in 2007 - 2010 had no substantial changes (78.7 per million in 2002 - 2006 and 82.9 per million in 2007 - 2010). However, among boys, the incidence rate in 2007 - 2010 was significantly higher than that in 2002 - 2006 with SRR 1.2 (95%CI: 1.0 - 1.4). For specific subgroups of cancer, there were no substantial changes. Some cautions should be taken when interpreting results involving a small number of cases per year and those with wide 95% confidence intervals.</p><p><b>CONCLUSION</b>The incidence rate of pediatric malignant solid tumors among males was higher than females during 2002 - 2010, and it differed among different age groups with the highest in the first five years of life. CNS tumor was the most common type of solid tumors in children. This was a unique characteristics comparing with adult reflected in disease spectrum and age of onset. The patterns of incidence and its trends for childhood malignant solid tumors in Shanghai could provide a basis for etiologic research and preventive interventions. The findings also suggest an urgent need for longer population-based surveillance to verify the pattern and changing trends.</p>