小儿性腺外内胚窦瘤3例诊断与治疗分析

目的总结小儿原发性腺外内胚窦瘤的诊断与治疗经验。方法回顾性分析我院2003年10月-2011年9月收治的3例性腺外内胚窦瘤患儿的病历资料。结果术前均行PEB或JEB方案新辅助化疗,根治性手术切除,术后病理均为完全缓解,术后继续化疗。随访3个月～8年,2例无病存活,1例原位复发,经术前化疗、再次手术切除及术后化疗后,现随访25个月,无病存活。结论甲胎蛋白水平对小儿性腺外内胚窦瘤诊断及术后复发监测灵敏度较高,化疗与手术结合治疗效果良好。     

小儿骶尾部内胚窦瘤的治疗

目的探讨骶尾部内胚窦瘤的治疗和预后。方法回顾性分析1999年1月-2005年12月收治12例骶尾部内胚窦瘤患儿。该组病例术前经B超、CT或MRI检查发现骶尾部肿瘤,经检测血清甲胎蛋白均升高,采用手术切除全部或大部分肿瘤,所有患儿均采用BEP（顺铂十足叶乙甙＋博来霉素）方案化疗。结果该组病例术前经B超或CT检查发现骶尾部肿瘤,经检测血清甲胎蛋白（AFP）均升高,采用手术切除全部或大部分肿瘤,病理证实为内胚窦瘤。患儿均采用BEP（顺铂＋足叶乙甙＋博来霉素）方案化疗。随访6年,生存9例,死亡3例,复发5例。结论以顺铂为基础的联合化疗可改善内胚窦瘤疗效,AFP检测及B超联合应用对小儿内胚窦瘤诊断及复发监测有重要意义,选择恰当的手术方式并辅以联合化疗可提高患儿长期生存率。     

Cytogenetic Analysis of Childhood Endodermal Sinus Tumors: A Pediatric Oncology Group Study

Most adult germ cell tumors have a consistent cytogenetic abnormality, i(12p), and are aneuploid. Many pediatric germ cell tumors are biologically distinct from their adult counterparts, particularly endodermal sinus tumors (ESTs) of young children. We report cytogenetic and ploidy analysis of nine ESTs involving children under 3 years of age (four extragonadal and five testicular). Structural abnormalities were present in seven tumors and were identifiable in six: 5/6 had a structural abnormality of chromosome 1, usually terminal deletion of 1p; 5/6 showed 6q deletion; 3/6 had structural abnormalities of 3p; 2/6 showed abnormalities of chromosome 2. None showed an i(12p) or abnormality of chromosome 12. Ploidy analysis of the tumors correlated with the cytogenetic analysis; in particular, the tumor that was cytogenetically normal showed no aneuploid peaks. To determine if a marker chromosome was derived from chromosome 12 or if karyotypically normal cases included nondividing tumor cells, interphase fluorescence in situ hybridization using an alpha satellite probe for chromosome 12 was performed. These studies showed no evidence of an i(12p). We conclude that ESTs in young children show cytogenetic differences from their adult counterparts and that loci on 1p, 6q, and 3q need to be further studied.     

Malignant gastric teratoma: report of two cases from a single center

Gastric teratomas (GT) are rare, accounting for less than 1% of all teratomas. GT usually presents with an abdominal mass, but rarely does it present with gastrointestinal bleeding also. Gastric teratomas are rarely malignant and only two cases are reported in the literature. We treated two cases of malignant GT (endodermal sinus tumor) in infants. Both the patients were male. Surgical excision was done in both the cases. One patient received adjuvant chemotherapy. Both the patients are surviving without recurrence after 5 and 6 years of surgical excision, respectively. Prognosis of GT is excellent even when it is malignant.     

Cellular Peripheral Neural Tumors (Neurofibromas) in Children and Adolescents: A Clinicopathological and Immunohistochemical Study

Nine examples of a cellular peripheral neural tumor (CPNT) were identified in a review of 139 peripheral nerve sheath neoplasms in children, which included 60 neurofibromas and 16 malignant peripheral nerve sheath tumors. The mean age at diagnosis of these nine patients was 7 years, with six presenting in the first decade of life and four were noted at birth. The male:female ratio was 0.5. Topographically, the tumors were located in the extremities, 4; head and neck, 3; and trunk, 2. One or another stigmata of von Recklinghausen's neurofibromatosis (VRN) was present in four patients. After initial resection, seven children remained well, but two developed a recurrence; the histology was identical to the original tumor in one case but overt malignant transformation had occurred in the second. This case was the only tumor-related death in this series. The CPN as a circumscribed but nonencapsulated mass measuring 1.8-7.5 cm in greatest dimension in the subcutaneous and deep soft tissues and had a compact spindle cell pattern, occasional mitoses, and minor foci of typical neurofibroma. Immunohistochemical staining revealed vimentin expression in all seven cases, Leu-7 in six, myelin basic protein and S-100 protein in five, desmin in one, and actin in none. In contrast to neurofibroma and malignant peripheral nerve sheath tumors, CPNT tended to occur earlier, either congenitally or in the first decade, and slightly more commonly in females. The anatomical distribution and pattern of immunoreactivity were similar to neurofibroma. However, the cellularity and mitotic activity of these neoplasms were sufficiently disquieting as to raise concerns about the prognosis, and in one case, the tumor behaved in an unequivocally malignant fashion. When a peripheral neural tumor with the pathologic features described in this study is encountered, wide excision and careful clinical follow-up are recommended.     

Neonatal localized neuroblastoma: 52 cases treated from 1990 to 1999]

Neuroblastoma is the most frequent tumor observed in the newborn. The aim of this study was to review clinical features, treatment and outcome of newborns diagnosed with a localized neuroblastoma. POPULATION AND METHODS: Data from 52 cases treated according to the NBL 90 and 94 protocols between 1990 and 1999 in 18 French centers of pediatric oncology were analyzed. RESULTS: The median age at diagnosis was 12 days (range 0-28) with antenatal detection in 14 patients (27%). Tumor location was abdominal in 40 patients (adrenal in 20 of the 40), thoracic in eight, pelvic in three, and cervical in one. N-myc amplification was observed in one out of 40 evaluable cases. The size of the primary tumor was less than 5 cm in 25 cases, between 5 and 10 cm in 25 and more than 10 cm in two. Dumbbell tumor was observed in seven, of whom five had neurological deficit. One child died from hemorrhage after fine needle biopsy during diagnostic procedure. Primary surgical resection was attempted in 37 infants, of whom two died of surgery related complications and three had nephrectomy. Tumor was deemed as unresectable in 14 patients, and primary chemotherapy was given followed by surgical excision in 12. One of them died a few days after the beginning of chemotherapy. As a whole, continuous complete remission was achieved in 48 children, four of them after relapse. Overall survival was 92% with a median follow-up of 46 months (0-113 months). CONCLUSION: The excellent prognosis of localized NB in neonates needs very restrictive surgical indications, with well-established anatomic and imaging criteria. Indeed, chemotherapy based on weight and managed by expert teams should allow to perform surgical excision in safer conditions for unresectable tumors.     

Endodermal sinus tumour of the omentum in a child

Endodermal sinus tumour usually arises in a gonad; extragonadal endodermal sinus tumours are rare. We report a 3-year-old boy with an endodermal sinus tumour arising in the greater omentum, which may be the second reported case in the English literature. He presented with a solid mass in the upper abdomen and a markedly raised serum -fetoprotein (AFP) level. Following percutaneous needle biopsy and omentectomy, histological examination revealed classic morphological features of an endodermal sinus tumour. This rare diagnosis is possible from the imaging features in association with a raised serum level of AFP.     

儿童内胚窦瘤临床治疗研究

目的 探讨儿童内胚窦瘤的治疗与转归。方法 回顾性分析2000 年4 月至2013 年7 月收治的12 例内胚窦瘤患儿的临床资料。其中男7 例,女5 例;11 例年龄在1~3.3 岁之间,1 例11 岁。Ⅰ期2 例,Ⅱ期4 例,Ⅲ期2 例,Ⅳ期4 例。1 例采用单纯手术,1 例采用手术联合VAC（长春新碱+ 放线菌素D+ 环磷酰胺）方案化疗,10 例采用手术联合以PEB（顺铂+依托泊苷+博来霉素）方案为主的化疗。结果 成功随访11 例,目前存活10 例,生存期为4.5~66 个月。10 例接受了PEB 方案化疗的患儿,8 例达到完全缓解,1 例达到部分缓解,1 例失访。PEB 方案治疗并发症主要包括骨髓抑制及胃肠道反应,未发现远期并发症。结论 手术联合PEB 化疗方案是有效、安全的治疗儿童内胚窦瘤的方法,但需积累更多病例进一步证实。     

Acute suppurative thyroiditis in children secondary to pyriform sinus fistula

Acute suppurative thyroiditis (AST), a potential complication of pyriform sinus fistula (PSF), is a rare clinical condition as the thyroid gland is remarkably resistant to infections. Lack of awareness of the entity contributes to the rarity and frustrating recurrences. We performed a retrospective review of all cases of AST due to PSF treated at our institution over a 10-year period. The clinical data, investigations, operative findings and procedures, microbial culture reports and follow-up were recorded and analyzed. Between January 1997 and September 2006, 12 cases (8 males and 4 females) of AST due to PSF were treated. Nine patients (75%) underwent successful complete excision, seven of whom had initial incision and drainage procedures. In three patients (25%) with recurrence, one underwent complete excision at a later procedure, one patient had multiple recurrences with six incision and drainage procedures and two failed attempts of excision of PSF before final successful complete excision. The third patient is awaiting re-excision of the PSF tract. All patients, except the one awaiting re-excision, are well with no further recurrences during the follow-up period that ranged from 18 to 96 months (median, 46.5 months). AST due to PSF is a challenging entity in terms of diagnosis and management as recurrences are common despite meticulous dissection. High index of suspicion and radiological investigations such as barium studies and computed tomography scan aid in the delineation and excision of the fistulous tract.     

Pediatric ovarian tumors: a review of 67 cases

BACKGROUND: Ovarian tumors are uncommon but important childhood neoplasms. PROCEDURE: We reviewed records of 67 pediatric patients presenting to three pediatric referral centers from 1980 to 2003. RESULTS: Thirty patients had benign tumors. Thirty-seven patients had malignant tumors: 11 immature teratomas, seven malignant mixed germ cell tumors, seven juvenile granulosa cell tumors, five dysgerminomas, two endodermal sinus tumors, two serous papillary cystadenocarcinomas, one small cell carcinoma, one anaplastic sex-cord tumor, and one undifferentiated sarcoma. More than half presented with abdominal pain. Forty-six percent had an abdominal mass at the time of presentation. Other signs and symptoms included poor appetite (15%), urinary symptoms/urinary infection (9%), menstrual changes (9%), and weight loss (6%). Precocious puberty was noted in seven patients. Torsion was seen more often in patients with benign tumors (23 vs. 8%); two patients had both torsion and acute appendicitis. The neoplasm was an incidental finding in 12 patients. CONCLUSIONS: Fifty-five percent of the 67 ovarian tumors presenting to our centers were malignant. Pain was the most common symptom, although presence of an abdominal mass was frequent, and other symptoms non-specific. Almost all neoplasms presented as unilateral masses and rarely were metastatic at diagnosis. Ovarian tumors must be considered in the differential diagnosis of young girls with abdominal pain, mass, or other non-specific symptoms.     

Retroperitoneal teratomas in infancy and childhood

Retroperitoneal teratoma poses a significant problem in the differential diagnosis of Wilms’ tumor, neuroblastoma, and other intraabdominal tumors. In an attempt to establish the best diagnostic and treatment modality, we reviewed our experience with retroperitoneal teratomas at a single institution in a 5-year period. Between January 1998 and December 2002, retroperitoneal teratomas were identified in 10 patients, seven females and three males, ranging from age 4 days to 12 years, with seven patients under the age of 1 year. The presence of calcifications or bony structure within the tumor was revealed on abdominal ultrasound study or computed tomography in nine of the 10 lesions. Total excision was performed in nine patients; another patient with grade III immature teratoma received postoperative chemotherapy besides excision. One patient with grade III immature teratoma who did not receive postoperative chemotherapy had a local recurrence 6 months later and was treated by repeated surgical excision and postoperative chemotherapy. All of these patients were free of disease at 8 months to 5 years of follow-up. Retroperitoneal teratomas were usually noted in patients under the age of 1 year. Though large, they are mostly benign lesions with no apparent connection to the retroperitoneal organs and are amenable to curative excision, but histologic evidence of grade III immature teratoma or malignancy demands aggressive postoperative chemotherapy to prevent local recurrence.     

Endodermal sinus tumor of the vagina

Malignant germ cell tumors of the vagina represent a critical site for local treatment. We report on our experience with two vaginal endodermal sinus tumors. Treatment with PEB regimen induced both tumor regression and alpha fetoprotein normalization. One patient had a residual lesion that was biopsied twice and no viable tumor cells were ever found. Both patients remained alive and disease-free, without having had surgical procedures except for biopsies. Platinum-based chemotherapy is able to achieve complete remissions and should be considered for vaginal endodermal sinus tumors.     

Abdominal inflammatory masses mimicking neoplasia in children—experience of two centers

Despite progress in modern imaging, some inflammatory masses are difficult to distinguish clinically from neoplastic processes. In such cases the pathology report has a great distinctive value, but even then the final diagnosis may be difficult to reach. Eight patients with abdominal tumors of inflammatory origin were treated in two institutions, the Department of Pediatric Surgery of the Medical University of Gdansk, Poland, and Helios Center of Pediatric Surgery in Berlin, Germany, during the last 10 years. Four tumors were located in the pelvis, two in the liver, and two in the colonic mesentery. Five of them were inflammatory pseudotumors (two subclassified as inflammatory fibrosarcoma), one had nonspecific inflammatory changes, one was diagnosed as idiopathic retroperitoneal fibrosis, and one was diagnosed as bacillary angiomatosis. All patients underwent surgical tumor biopsy, excisional in four and incisional in four. All but two children underwent macroscopically complete tumor excision (four primarily, two secondarily). In one case the tumor resolved with antibiotherapy. Surgery in retroperitoneal masses was often extensive and associated with significant complications because of invasive tumor growth. In conclusion, intraabdominal inflammatory lesions may closely mimic neoplasia in children. Clinical doubts result in repeated biopsies, and for this reason excisional biopsy should be preferred. In some cases, when excisional biopsy is not feasible due to invasive growth of the tumor, delayed complete mass excision should follow, despite occasional significant morbidity. The etiology and exact nature of inflammatory pseudotumors are still obscure, and it is unknown whether they represent inflammatory lesions or true neoplasia.     

完全性房室传导阻滞的转归

目的　探讨小儿完全性房室传导阻滞 (CAVB)的临床转归特点 ,旨在提高其诊治水平。方法　对 1 7例初诊为CAVB患儿进行回顾性及随访研究 ,并对临床特点、治疗方案及预后进行分析。结果　先天性CAVB中 4例随访 6个月～ 9年 ,均无明显症状 ,可正常生活 ,1例因腹泻诱发阿斯综合征。病毒性心肌炎VM致CAVB中 3例经综合治疗后转为窦性心律 ,2例持续存在且伴心脏扩大 ;1例病情恶化放弃抢救 ;1例死亡。 5例心内直视术后致暂时性CAVB中 3例分别于术后较短期内转为窦性心律 ,2例永久性CAVB安置起搏器 ,其中随访 8年 1例 ,期间换过 1次起搏器 ,现能正常生活 ,另 1例失访。结论　本组先天性CAVB其QRS间期正常 ,无明显症状者无须治疗 ,但需随访。当伴心脏畸形、宽QRS波及婴幼儿不能耐受过慢心室率者为高危患儿。VM致CAVB患儿易发生阿斯综合征 ,需积极治疗。心脏直视术引起CAVB部分病例通常在术后 2～ 4周可恢复正常窦性心律。术后CAVB若持续在 4周以上、有阿斯综合征发作者需安置永久起搏器。     

Clinical manifestations and MRI features of vaginal endodermal sinus tumors in four children

Background

Vaginal endodermal sinus tumor is a rare entity.

Objective

The purpose of this study was to report the clinical manifestations and MRI features in a case series.

Materials and methods

Children with vaginal endodermal sinus tumor admitted to our hospitals between January 2008 and August 2012 were included. MRI was performed in all four children and diffusion-weighted imaging was performed in two children.

Results

Four children, mean age 14 months, were included. All had a history of vaginal bleeding. Serum alpha-fetoprotein was significantly elevated on admission. Relative to muscle, the vaginal masses were uniformly isointense on T1-weighted images, heterogeneously hyperintense on T2-weighted images and heterogeneously enhancing on contrast-enhanced images. The vaginal masses were obviously hyperintense on diffusion-weighted images (b value, 800 s/mm²). Extravaginal invasion was observed in three children. Pelvic lymphadenopathy was noted in two children and pulmonary metastasis was found in one child.

Conclusion

MRI may contribute in the evaluation of vaginal endodermal sinus tumors.     

The unique association of malignant histiocytosis and a primary gonadal germ cell tumor

Previous reports of the association between hematologic malignancies and germ cell tumors have been limited to patients with nonseminomatous tumors, exclusively of mediastinal origin. Among the various hematologic disorders, a large proportion have involved histiocytic tumors, either acute monocytic leukemia or malignant histiocytosis. We now report the first case of simultaneously occurring malignant histiocytosis and testicular embryonal carcinoma. The patient, an 18-year-old male, presented with hepatosplenomegaly due to malignant histiocytosis and was found on further evaluation to have a stage I testicular cancer consisting of teratocarcinoma with endodermal sinus elements. Despite aggressive chemotherapy, the patient died of malignant histiocytosis 6 months after the original diagnosis. The autopsy revealed widespread organ involvement with malignant histiocytosis and no evidence of residual germ cell tumor. This case demonstrates that germ cell tumors associated with hematologic malignancy do not arise solely in extragonadal sites.     

The unique association of malignant histiocytosis and a primary gonadal germ cell tumor.

Previous reports of the association between hematologic malignancies and germ cell tumors have been limited to patients with nonseminomatous tumors, exclusively of mediastinal origin. Among the various hematologic disorders, a large proportion have involved histiocytic tumors, either acute monocytic leukemia or malignant histiocytosis. We now report the first case of simultaneously occurring malignant histiocytosis and testicular embryonal carcinoma. The patient, an 18-year-old male, presented with hepatosplenomegaly due to malignant histiocytosis and was found on further evaluation to have a stage I testicular cancer consisting of teratocarcinoma with endodermal sinus elements. Despite aggressive chemotherapy, the patient died of malignant histiocytosis 6 months after the original diagnosis. The autopsy revealed widespread organ involvement with malignant histiocytosis and no evidence of residual germ cell tumor. This case demonstrates that germ cell tumors associated with hematologic malignancy do not arise solely in extragonadal sites.     

Testicular germ cell tumors in children: management and outcome in a series of 20 patients

Testicular germ cell tumors occurring during childhood are extremely rare. This study reports the clinical presentation, pathological diagnosis, treatment methods and outcome in a series of 20 boys, aged between 3.5 months and 16 years (median: 1.5 years; 19 were prepubertal), who were treated between 1963 and 2003. Histologically, mature teratoma was present in seven, immature teratoma in four and yolk sac tumor in nine. Nineteen patients were stage I; only one patient was stage IV. Of the 11 teratomas, 10 were treated by orchiectomy and one by testis-sparing tumor excision only. All 11 patients have survived and show no evidence of disease between 10 and 28 years after surgery. The nine patients with yolk sac tumor were managed by orchiectomy, in two plus retroperitoneal lymphadenectomy, and in eight plus chemotherapy. One patient is in remission for 10 months, seven are alive with no evidence of disease for 5.5-23 years, and one patient died from a T-cell acute lymphoblastic leukemia, 2 years after the end of treatment of the testicular tumor. A gradual switch towards less invasive treatment has been observed over the years. This study confirms the excellent cure rates obtained in children with testicular germ cell tumor, provided diagnosis is prompt and treatment accurate.     

Pancreatoblastoma in childhood: clinical course and therapeutic management of seven patients

BACKGROUND: To analyze the clinical course of pancreatoblastoma in children and to propose management and therapy. PROCEDURE: Retrospective review of seven cases of pancreatoblastoma treated in France over a 20-year period and literature review. RESULTS: Median age of patients was 6 years. The tumor was well encapsulated in one patient and had direct extension to adjacent tissues in two others. Three patients had regional lymph node involvement and one had liver metastases. The tumor arose in the head of the pancreas in three children, in the tail and body in two and in the tail and in the body, one each. Elevation of AFP serum levels was noted in four out of 6 cases. Five tumor resections were performed, one initially and 4 after neoadjuvant chemotherapy, and cisplatin plus doxorubicin seemed effective. Two children received post-operative irradiation because of incomplete resection. In all, four children are disease free with a median follow-up of 50 months ( range, 5--120 months) : one had a complete removal of tumor at diagnosis and no further treatment, three had unresectable tumor at diagnosis and received neoadjuvant chemotherapy with cisplatin and doxorubicin. One of them also received post-operative irradiation. CONCLUSIONS: Pancreatoblastoma is a curable tumor. Examination of serum AFP levels may be useful for diagnosis and to follow the course of the disease. Complete resection is the treatment of choice. However, tumor is often unresectable at diagnosis and preoperative chemotherapy is needed to reduce tumor volume. We suggest a regimen that include cisplatin and doxorubicin. In patients with incompletely resected disease, postoperative radiation may be indicated.     

Genetic analysis of childhood endodermal sinus tumors by comparative genomic hybridization

Childhood endodermal sinus tumors (CEST) are a distinct category of germ cell tumors that involve the testis and extragonadal sites of young children. Recurrent deletions of 1p and 6q have been reported by classic cytogenetic analysis of a small number of cases. Comparative genomic hybridization, a technique that screens the entire genome for genetic abnormalities, is applied to additionally define the genetic changes present in CESTs. Sixteen frozen CESTs (10 testicular, 6 extragonadal) obtained from Pediatric Oncology Group-affiliated institutions or from the Cooperative Human Tissue Network were analyzed. The most common changes were gain of 20q (10 tumors), 1q (6 tumors), 11q and 22 (4 tumors each), and loss of 6q (8 tumors with common deleted region of 6q24-qter), 16q (4 tumors), and 1p (4 tumors). Localized regions of gain were identified at 8q24 (2 tumors both showing c-myc amplification by fluorescence in situ hybridization). Gain of 12p, characteristic of adolescent germ cell tumor, was present in one testicular tumor. Comparative genomic hybridization was useful in defining genetic differences between adult and childhood tumors, in determining the common regions deleted on chromosome 6, and in identifying other involved loci to be correlated with clinical parameters in future studies.