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。     

A rare germ-cell tumor site: vaginal endodermal sinus tumor

Malignant germ-cell tumors (MGCT) are rare tumors of childhood accounting for less than 3% of pediatric malignancies. Endodermal sinus tumor (EST) forms the most common histologic subtype of MGCT. The vagina is an extremely rare site for GCTs. A 9-month-old female was admitted with a short history of vaginal bleeding, a mass protruding from the vagina, and difficulty in passing urine. She was pale, the bladder was full, and a mass was palpable anteriorly on rectal examination. Ultrasound showed an ovoid, hyperechoic mass posterior to the bladder. A biopsy revealed a vaginal EST. The serum alpha-fetoprotein (AFP) was elevated partial vaginectomy was done and the tumor was excised in toto. The patient was subsequently given six courses of cis-platinum, etoposide, and bleomycin and on follow-up continues to be free from disease. EST is the most common GCT in children. In females, it is usually encountered in the ovary. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. The diagnosis is based on histology and raised AFP. Vaginal EST is both locally aggressive and capable of metastasis. Untreated patients have died within 2 to 4 months of presentation. Radical surgery leads to a loss of sexual and reproductive function. Long-term irradiation has secondary effects of sterility, aseptic necrosis of the femoral head, and abnormal growth of the pelvic bones. Partial vaginectomy with combination chemotherapy is the most recommended line of treatment. The surgery eradicates local tumor cells and makes subsequent chemotherapy more effective. Simple tumor excision is not sufficient, as residual tumor cells induce early recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.     

A TERATOID WILMS' TUMOR WITH RAISED SERUM ALPHA-FETOPROTEIN LEVEL

Tumor markers are used to diagnose certain cancers and can be useful in monitoring the response to treatment. We describe a renal tumor with the features of a teratoid nephroblastoma associated with a raised serum level of alpha-fetoprotein (AFP). The serum AFP remained high during chemotherapy but returned to normal after nephrectomy. AFP was demonstrated by immunohistochemistry in cysts lined by enteric-type epithelium within the tumor. Cytogenetic examination of the tumor showed a clone of cells with trisomy 8. Raised serum AFP has not previously been described in teratoid Wilms' tumor.     

Vaginal endodermal sinus tumor

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding pervagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excisedin toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.     

Management of pineal non-germinoma germ cell tumor with residual teratoma and normal alpha-fetoprotein

A 16-year-old white male presented with multiple abnormal extraocular movements secondary to an enhancing pineal tumor. Subtotal resection of the lesion revealed a mixed malignant germ cell tumor. The pre-operative serum alpha-fetoprotein (AFP) was markedly elevated at 155 IU/L. The patient subsequently received radiotherapy and adjuvant chemotherapy consisting of cisplatin rotating monthly with vincristine and cyclo-phosphamide, with dramatic tumor regression and return of AFP to normal. Eighteen months later the persistence of a substantial tumor mass despite a normal AFP raised concern for residual active tumor. Histological examination of the resected lesion revealed benign teratoma and fibrous tissue. Repeat surgical intervention may contribute to the management of mixed malignant germ cell tumors, which demonstrate a persistent mass following an initial response to treatment. © 1994 Wiley-Liss, Inc.     

Evaluation of six tumor markers in patients with carcinoma of unknown primary

We have retrospectively evaluated six serum tumor markers in 85 patients with carcinoma of unknown primary. The serum levels of carcinoembryonic antigen (CEA), CA 19-9, CA 15-3, CA 125, β-chorionic gonadotropin (β-HCG) and α-fetoprotein (AFP) were related with the histological pattern (undifferentiated carcinoma or adenocarcinoma), the number and the site of metastases, as well as the response to chemotherapy and the patients' survival. More than 40% of the patients had increased serum levels of all six tumor markers, except of AFP which was found to be increased in only 17% of them. Increased levels of CA 19-9 were related to metastatic adenocarcinoma, whereas CA 19-9 and CA 15-3 had a relationship with more advanced disease. Patients with liver involvement had higher mean levels of CEA and CA 19-9 as compared to those with nodal disease. None of these markers was found to have a predictive value for response to chemotherapy or survival. Although the present study has a retrospective nature, it allows us to conclude that patients with CUP have a nonspecific over-expression of the above serum tumor markers and that routine use of these markers does not offer any diagnostic or prognostic assistance. © 1994 wiley-Liss, lnc.     

Living-related liver transplantation with removal of inferior vena cava for unresectable hepatoblastoma

We report a case of a two-yr-old boy with hepatoblastoma resectable only by total hepatectomy including the vena cava. Successful LTx was performed with a living donor segment without vena cava reconstruction. The tumor was located in the bilateral lobe, surrounding the IVC. In spite of the high-dose chemotherapy, the tumor did not become resectable. LTx was performed using left lateral segment after removal of the IVC combined with total hepatectomy. Because the collaterals were well developed, the patient tolerated the procedure well. The serum AFP level decreased from 186 699 to 8 ng/mL in 11 months after LTx without local recurrence or distant metastasis.     

Mesenchymal hamartoma of the liver mimicking hepatoblastoma

Mesenchymal hamartoma of the liver is a cystic benign liver mass occurring in children. Diagnostic confusion with hepatoblastoma may arise when alpha-feto-protein (AFP) level is elevated. We report an extremely rare case of mesenchymal hamartoma in an 11-month-old boy. Serum AFP was elevated and fine-needle aspiration biopsy suggested the lesion as hepatoblastoma, so he received preoperative chemotherapy. At the end of the preoperative chemotherapy, the tumor size and AFP level decreased. A right hepatectomy was performed. The pathologic examination of the specimen revealed mesenchymal hamartoma. Mesenchymal hamartoma of the liver with increased serum AFP levels may mimic hepatoblastoma if a cytological examination samples only the hepatocellular component of mesenchymal hamartoma. According to our knowledge, this is the first case of the mesenchymal hamartoma of the liver, which showed reduction in serum levels of AFP and involution of the tumor size by preoperative chemotherapy.     

小儿卵巢肿瘤56例临床分析

目的总结小儿卵巢良恶性肿瘤病理特点,以血清AFP作为指标评价治疗效果及预后。方法回顾性分析本院2005年至今手术治疗56例卵巢肿瘤患儿的肿瘤病理特点、肿瘤与年龄的关系以及治疗前后血清AFP值的变化(按良恶性分组并进行组间及组内比较)。结果 56例患儿中,年龄最小4个月,最大17.6岁;良性39例,恶性17例;良性肿瘤中,以卵巢成熟性畸胎瘤(20/39)及囊肿(19/39)多见;恶性肿瘤中,以卵巢未成熟性畸胎瘤(6/19)发病率高。恶性组血清AFP值术前或术后总体AFP值均显著高于良性组(P<0.01)。良性组手术前后血清总体AFP值的变化无统计学意义(P>0.05),而恶性组术后血清总体AFP值较术前下降,差异有统计学意义(P<0.01)。结论小儿卵巢肿瘤中良性者发病率高于恶性;血清AFP值可能作为良恶性鉴别及评估手术疗效的临床指标。手术是有效治疗小儿卵巢肿瘤、改善恶性卵巢肿瘤患儿预后的重要方法。     

High survival rates after liver transplantation for hepatoblastoma and hepatocellular carcinoma

Kosola S, Lauronen J, Sairanen H, Heikinheimo M, Jalanko H, Pakarinen M. High survival rates after liver transplantation for hepatoblastoma and hepatocellular carcinoma.
Pediatr Transplantation 2010: 14:646–650. © 2010 John Wiley & Sons A/S. Abstract: Unresectable malignant liver tumors may be treated by LTx. We evaluated the results of LTx for HB and HCC. All patients transplanted for HB or HCC between 1990 and 2007 were included. Effects of histologic tumor type, primary tumor resection, disease staging, and serum AFP levels at diagnosis and at transplantation on disease recurrence and survival were evaluated. Twelve patients with median age of five (range, 2–16) were transplanted and followed for a median of 11 (2–18) yr. Six patients had HB and six had HCC. At diagnosis, eight patients were staged as PRETEXT III and four patients as PRETEXT IV. Two patients had pulmonary metastases. All patients received neoadjuvant chemotherapy. Median time from diagnosis to LTx was seven (2–133) months. At LTx, none of the patients had radiological evidence of extrahepatic disease, and the median AFP level was 85 (6–15 180) μg/L. No routine chemotherapy after LTx was used.The overall one‐, five‐, and 10‐yr cumulative survival rates were 100%, 80%, and 67%, respectively. Survival was comparable between the two tumor types (4/6 for both). Two deaths occurred secondary to tumor recurrence, one of each tumor type. Both of these patients had an AFP response of <99%. Six of eight patients with primary LTx survived, when compared to two of four transplanted after primary resection. PRETEXT tumor staging had no effect on survival. LTx even without post‐transplantation chemotherapy is an effective treatment option for unresectable HB and HCC with comparable survival. Incomplete AFP response to chemotherapy and primary tumor resection were associated with decreased survival.     

Intrahepatic arterial injections of cisplatin-phosphatidylcholine-Lipiodol suspension in two unresectable hepatoblastoma cases

Two cases with unresectable hepatoblastoma were treated by intrahepatic arterial injections of cisplatin-phosphatidylcholine-Lipiodol suspension (CPLS), combined with systemic chemotherapy. Unfortunately, the first patient who was given three injections of CPLS in association with systemic chemotherapy died of progressive disease 18 months after the commencement of the therapy. However, the second patient who received about 1 year of systemic chemotherapy followed by three injections of CPLS prior to subtotal tumor resection, plus four injections after surgery, is now alive and healthy 22 months after the commencement of treatment, with no detectable serum alpha-fetoprotein (AFP), although the AFP level on admission was 695,000 ng/ml. In the surgical specimens of case 2, there were areas with Lipiodol deposits rich in platinum and replaced by marked fibrosis around necrotic tumor nodules. Intrahepatic arterial injection of CPLS in combination with systemic chemotherapy and surgery should be considered as an effective method for unresectable cases.     

小儿卵黄囊瘤的诊断与治疗

目的 总结18例儿童卵黄囊瘤手术治疗和化疗的临床经验,分析探讨与预后的关系.方法 回顾性分析我院1992年4月至2009年12月收治的18例儿童卵黄囊瘤的病例资料.男12例,女6例,依据临床表现、影像学所见和血AFP水平升高,做出临床诊断.原发部位:睾丸10例,卵巢3例,骶尾部4例,腹部1例.结果 11例完全切除及BEP方案化疗;5例未完全切除、化疔;1例完全切除、未化疗;1例未完全切除也未行化疗.随访8～24个月,监测影像检查及血AFP水平变化,除1例放弃治疗外,全部患儿存活良好,未出现复发或转移.结论 在儿童卵黄囊瘤的治疗中手术与化疗相结合可以达到良好的疗效.

Abstract：

Objective To review our experience of managing yolk sac tumors in children. Methods Clinical data of eighteen patients with yolk sac tumors admitted in our department from April 1992 to December 2009 were reviewed retrospectively. There were 12 boys and 6 girls. The diagnoses were based on diagnostic imaging and elevated serum AFP levels. Of the 18 cases, 10 were located in testes,3 in ovaries,4 in sacrococcygeal region and 1 in the abdomen. Results Eleven patients were treated with complete excision and BEP chemotherapy; 5 pateints underwent subtotal resections and chemotherapy; one complete excision without chemotherapy; one patient refused treatment. Followedup of 8-24 months revealed that all children, except for the untreated case, survived uneventfully, without any sign of recurrence or metastasis. Conclusions The combination of surgery and chemotherapy can achieve good prognosis in children with yolk sac tumors.     

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.     

Virilizing hepatoblastoma—Significance of alpha-1-fetoprotein and human chorionic gonadotropin as tumor markers in diagnosis and follow-up

Hepatoblastoma was diagnosed in a 12 month old boy presenting with hepatomegaly and isosexual precocious puberty. Preoperative levels of both alpha-l-fetoprotein (AFP) and human chorionic gonadotropin (HCG) were highly elevated. The tumor was removed by hepatic trisegmentectomy. Tumor tissue contained high concentrations of AFP and HCG. On combination chemotherapy with cyclophosphamide (CYC), vincristine (VCR), adriamycin (ADR) and 5-fluoruracil (5-FU) HCG dropped over a period of 9 months to normal values. In contrast, AFP was undetectable following surgery. One year after initiation of therapy there is no clinical or radiological evidence of recurrence of the malignancy but the observation period is too short to draw any conclusions on the effect of therapy and the final outcome.     

Pretransplant trends in α‐fetoprotein levels as a predictor of recurrence after living donor liver transplantation for unresectable hepatoblastoma: A single‐institution experience

LT is a practical therapeutic alternative for unresectable hepatoblastoma; however, deciding when to perform LT is difficult. The aim of this study was to optimize the timing of LT for hepatoblastoma using pretransplant trends in AFP levels. Trends in pretransplant AFP levels and their influence on post‐transplant outcomes were retrospectively evaluated. All patients who underwent living donor LT for hepatoblastoma in our institution since 2002 were included. Variables analyzed included history of prior tumor resection, pretransplant AFP responses to chemotherapy, metastatic disease at diagnosis, and post‐transplant chemotherapy. Eight patients (seven boys and one girl; median age, 35 months; range, 15 months‐12 years) were transplanted. The overall post‐transplant recurrence‐free survival rate was 62.5% (5/8) with a mean follow‐up of 77 months. Patients with post‐transplant recurrence showed a 0.573 log increase in AFP levels after the last chemotherapy session before LT. This was significantly higher than the 0.279 log decrease observed in patients without post‐transplant recurrence (P = .024). Because the AFP response cannot be accurately predicted before each cycle of chemotherapy, it may be appropriate to perform LT when AFP levels do not decrease after the last cycle and before they are found to be elevated again.     

Elevated serum alpha-fetoprotein in Wilms tumor may follow the same pattern of other fetal neoplasms after treatment: evidence from three cases

Alpha-fetoprotein (AFP) is a common tumoral marker in pediatric neoplasms; increased serum levels are usually encountered in tumors arising from tissues producing AFP during fetal life. However, elevation of such protein is rarely found in patients with Wilms tumor (WT). Three patients with WT and elevated serum AFP were studied over the course of the disease. One patient had left WT with invasion of aorto-caval lymph nodes and lung metastases. The second patient was referred to our center for abdominal recurrence of bilateral WT whereas the third showed right WT with inferior vena cava thrombosis. AFP levels demonstrated a trend parallel to decrease/increase of tumor size, with further elevation in patients with metastases. Elevated AFP serum levels in patients with WT could be related to peculiar histological features and serial dosage might be a useful diagnostic and prognostic test.     

经导管动脉化疗栓塞在肝母细胞瘤综合治疗中的应用评价及文献回顾

目的：探讨经导管动脉化疗栓塞术（TACE ）在肝母细胞瘤综合治疗中的作用及疗效。方法回顾性总结2005年-2013年收治的10例经TACE 治疗的肝母细胞瘤患儿的临床资料。随访治疗后患儿的全身情况、血AFP值及瘤体体积大小的变化及生存情况。结果患儿10例,男女比例4∶1,发病中位年龄9.5个月（1个月～10岁）,10例患儿首诊后均予以1～4次TACE 治疗,其中6例TACE＋手术＋化疗,1例TACE＋化疗,3例在TACE 治疗后放弃继续治疗。介入治疗后肿瘤体积较前均有明显缩减（26.2％～10.00％,平均70.0％）,血清AFP值下降明显（28.5％～99.7％,平均83.6％）。所有患儿在接受TACE 治疗后均出现不同程度的发热、呕吐、一过性肝功能损害（Ⅰ度3例,Ⅱ度2例,Ⅲ度1例）、轻度骨髓抑制、贫血等不适,未见明显心脏毒性及肾毒性损害。随访时间2～114个月,平均随访时间为36.1个月,1年存活率100％（7／7）,2年存活率86％（6／7）,3年存活率71％（5／7）。6例患儿在接受TACE治疗后成功行手术切除,术后均接受全身化疗,1例仅经过4次TACE治疗及化疗后肿瘤消失,未行手术治疗,均无瘤存活至今。3例放弃治疗患儿分别于2～8个月后死亡。结论 TACE治疗可作为肝母细胞瘤术前重要的辅助治疗方式,能够使肿瘤体积明显缩小,血供减少,促进肿瘤包膜增厚,为尽可能完整切除创造了条件,能够改善肝母细胞瘤患儿的生活质量,提高长期存活率。     

Endodermal Sinus Tumor of the Parotid Gland in a Child

We report a case of a 16-month-old girl with a primary endodermal sinus tumor (EST) of the parotid gland. The girl was admitted to the hospital with a left side cervical tumor with a quick growth (within 3 wk). The tumor was surgically resected. The gross examination showed a 7.0-cm hemorrhagic and fragmentized mass. Diagnosis of an EST was established on the hematoxylin and eosin-stained slides from the resected material. Elevated serum alpha-fetoprotein (AFP) levels were detected and follow-up examinations of the patient did not show ESTs in other locations or other manifestations due to the tumor. The patient received chemotherapy after the surgery and remained alive without evidence of disease at the time of this writing (2 years after the diagnosis). As far as we know, this is the second report in the literature of a parotid glands EST.     

Late relapsing Wilms tumor with rhabdomyomatous differentiation

The authors report a patient with abdominally relapsed Wilms tumor with rhabdomyomatous differentiation leading to renal failure and death 9 years after the initial diagnosis. The patient was treated with intensive chemotherapy because of inoperable tumor but no response was obtained. The prognosis of children with Wilms tumor relapsed in abdomen and in previously irradiated fields is poor and intensive chemotherapy protocols for differentiated tumors after chemotherapy will increase the risk of complications without obvious benefit. Pediatr Blood Cancer 2009;52:675–677. © 2008 Wiley‐Liss, Inc.     

TREATMENT OF ALPHA-FETOPROTEIN SECRETING HEPATOBLASTOMA BY RESPONSE OF SERUM ALPHA-FETOPROTEIN LEVELS: A New Concept

Hepatoblastoma, thecommonest primary malignant livertumorin infants and children, is usually associated with elevated serum alpha-fetoprotein (AFP) levels. The authors sought to determine if AFP levels can be used to modify treatment, thereby avoiding the wait for formal imaging studies and prolonged suboptimal treatment and limiting the use of effective but toxic chemotherapy. From April 1984 to December 1997, 8 children were diagnosed with AFP-secreting hepatoblastoma. Serum AFP levels were measured weekly. If AFP levels failed to improve, or increased on at least 2 successive examinations, the chemotherapy protocol was changed. When an excellent response was achieved, less toxic chemotherapy was substituted. Six patients (75%) were disease-free for at least 2 years, some with high-risk or metastatic disease. Two patients died. Six of the 7 nonmetastatic patients (86%) remain disease-free (only one had a resectable tumor). Chemotherapy changes resulted in reduced AFP levels in 7 patients. This study supports the use of AFP monitoring to modify treatment in hepatoblastoma responding to therapy with less toxic drugs and the use of nonstandard therapy when suboptimal responses are obtained.