Unusual presentation of infantile hemangioendothelioma

Infantile hemangioendothelioma is a rare benign hepatic tumor arising from mesenchymal tissue. Most of the cases present with congestive heart failure and asymptomatic abdominal mass were before 6 months of age. We described a patient with projectile vomiting, which is quite an unusual presentation. Following surgical resection, neither recurrence nor symptoms were seen in 2 years of follow-up.     

Infantile hemangioendothelioma

Primary hepatic tumors are uncommon in children and account for only three per cent of the tumors in children. Infantile hemangioendothelioma is a rare benign hepatic tumor arising from mesenchymal tissue. Most of the cases present before six months. An unusual presentation and progression of infantile hemangioendothelioma is reported in a 19-month-old female child. The diagnosis was arrived at by radiological and histopathological examination. The patient underwent excision surgery, following which made an uneventful recovery. On follow-up at six months, patient was asymptomatic with no evidence of recurrence.     

Hypertrophic pulmonary osteo-arthropathy revealed by a pulmonary epithelioid hemangioendothelioma in a 15-year-old girl]

Pulmonary epithelioid hemangioendothelioma is a rare vascular tumor of the lung, that may be revealed by hypertrophic pulmonary osteo-arthropathy. CASE REPORT: A 15-year-old patient was admitted because of a 1-month history of pneumonia associated with clubbing. A hypertrophic pulmonary osteo-arthropathy due to a paraneoplastic syndrome associated with lung epithelioid hemangioendothelioma was diagnosed. Despite surgical resection and chemotherapy, the patient died 6 months later. COMMENTS: Hypertrophic pulmonary osteo-arthropathy is a rare syndrome in childhood, and is frequently associated with chronic respiratory failure. Diagnosis is confirmed by long bones proliferative periostitis on standard X-ray examination. Pulmonary epithelioid hemangioendothelioma is a rare vascular malignant tumor, that spreads from the vascular pulmonary or hepatic tissues. The prognosis is variable, depending on the malignancy of the tumor. In the absence of a chronic cardiorespiratory disease, the diagnosis of a pulmonary hypertrophic osteo-arthropathy in childhood should prompt the search for a tumoral cause.     

Hemangioendothelioma: A Rare Vascular Tumor in Childhood and Adolescence

Most vascular tumors occurring in children are benign. They are recognized by their ability to form angiomatous structures. In some instances, there is no clear-cut line between a benign vascular tumor (or angioma) and a malignant vascular tumor (or angiosarcoma). The hemangioendothelioma is a rare tumor of vascular origin, involving bone or soft tissue, and represents 1% of all vascular neoplasms. Accurate diagnosis is critical in recommending the most appropriate therapy for each patient. The aim of this paper is to give a brief review of the literature of this rare entity, particularly in childhood and adolescence.     

Impulse cytophotometry determination of the DNA content of paraffin-fixed neuroblastoma

The aim of the study was to develop a method to obtain a single cell suspension from paraffin fixated neuroblastoma tissue for measuring the DNA content by flow cytometry, and to detect possible correlation between the histological grading and the DNA stemline, and to relate these findings to the patients' prognosis. 51 samples of the fixated neuroblastoma tissue were measured. It was possible to determine the DNA content in 38 probes of the material. 79% of the evaluated samples showed aneuploid DNA stemlines, 21% showed euploid stemlines. Despite the small number of probes it was found, that in relation to the histological grading of neuroblastoma a lower grade of malignancy correlated with an euploid DNA content and a higher grade of malignancy correlated with an aneuploid DNA content. A correlation between DNA stemlines and the patients' prognosis was not found.     

Infantile hemangioendothelioma of the pelvis associated with Kasabach-Merritt syndrome

A case of infantile hemangioendothelioma of the pelvis in a newborn male infant is described. Shortly after delivery, a large abdominal mass was found by external examination. CT scan revealed a hypervascular retroperitoneal pelvic mass invading the lumbar spinal column. Exploratory laparotomy was performed and biopsy revealed infantile hemangioendothelioma. The tumor was associated with profound thrombocytopenia, intratumoral hemorrhage, and right hydroureteronephrosis. After treatment with high dose steroids, Cytoxan, and external beam radiation for 2 months, the patient was discharged with persistent thrombocytopenia requiring platelet transfusions. The hydroureteronephrosis has also not improved. The literature on this subject is reviewed.     

Infantile Hemangioendothelioma of the Pelvis Associated with Kasabach-merritt Syndrome

A case of infantile hemangioendothelioma of the pelvis in a newborn male infant is described. Shortly after delivery, a large abdominal mass was found by external examination. CT scan revealed a hypervascular retroperitoneal pelvic mass invading the lumbar spinal column. Exploratory laparotomy was performed and biopsy revealed infantile hemangioendothelioma. The tumor was associated with profound thrombocytopenia, intratumoral hemorrhage, and right hydroureteronephrosis. After treatment with high dose steroids, Cytoxan, and external beam radiation for 2 months, the patient was discharged with persistent thrombocytopenia requiring platelet transfusions. The hydroureteronephrosis has also not improved. The literature on this subject is reviewed.     

小儿卡波西型血管内皮瘤19例临床病理学特点

目的 探讨小儿卡波西型血管内皮瘤的临床病理学特点.方法 收集上海儿童医学中心及新华医院收治的19例卡波西型血管内皮瘤的临床特点及随访结果,应用HE及免疫组织化学染色,观察组织病理学特点,同时统计临床及随访资料.19例患儿中,男11例,女8例;平均年龄19个月,标准差为22.7个月,中位年龄10个月.14例位于皮肤及皮下软组织,3例原发于盆腔,2例原发于骨.临床上多出现局部肿块,少部分因发生凝血异常症状而就诊.实验室检查,8例血小板明显低于正常,7例凝血时间延长及纤维蛋白原降低.结果 本组病理大体标本为不规则实性肿块,无包膜,最大径0.3～1.5 cm.镜下肿瘤形成小叶状结构,边界不清,浸润性生长,小叶由增生的血管和梭形细胞组成,可见新月形和裂隙状血管腔,部分腔内可见微血栓.19例免疫组织化学检测肿瘤细胞表达CD31、CD34和D2-40,不表达Glut-1.19例患儿均经手术切除,其中8例伴有血小板减少的病例,经过对症治疗后再手术切除.随访时间3～75个月,18例术后无复发,1例并发致死性消耗性凝血(kasabach-merritt,KM)现象,患儿死亡.结论 卡波西型血管内皮瘤是少见的交界性儿童血管肿瘤,有特殊的组织学特点,因其可合并KM现象,所以明确诊断对临床意义重大.     

Hepatic hemangioendothelioma associated with production of humoral thyrotropin-like factor

We report on 7 patients referred for treatment of hepatic hemangioendothelioma with increased thyrotropin levels. The serum thyroxine level was decreased in 4 and increased in 2. Immunohistochemistry showed positive staining of tumor, but not of normal liver tissue, for thyrotropin. We propose secretion by the tumor of a thyrotropin-like factor.     

INFANTILE HEPATIC HEMANGIOENDOTHELIOMA WITH ELEVATED SERUM ALPHA-FETOPROTEIN

Infantile hemangioendothelioma is the most common hepatic vascular tumor in infants less than 6 months of age, with a prevalence of 1%. Serum α-fetoprotein levels have been used as an important tumor marker for hepatoblastoma, hepatocellular carcinoma, and germ cell tumors. It is rarely elevated in hepatic hemangioendothelioma. The authors report an infant with a hepatic hemangioendothelioma associated with elevation of serum α-fetoprotein who was treated with corticosteroids. In young infants, a solitary hepatic mass and elevated serum AFP level may not always be associated with hepatoblastoma. Infantile hemangioendothelioma must be differentiated by MRI or other radiological techniques before performing invasive procedures.     

Infantile hepatic hemangioendothelioma with elevated serum alpha-fetoprotein

Infantile hemangioendothelioma is the most common hepatic vascular tumor in infants less than 6 months of age, with a prevalence of 1%. Serum alpha-fetoprotein levels have been used as an important tumor marker for hepatoblastoma, hepatocellular carcinoma, and germ cell tumors. It is rarely elevated in hepatic hemangioendothelioma. The authors report an infant with a hepatic hemangioendothelioma associated with elevation of serum alpha-fetoprotein who was treated with corticosteroids. In young infants, a solitary hepatic mass and elevated serum AFP level may not always be associated with hepatoblastoma. Infantile hemangioendothelioma must be differentiated by MRI or other radiological techniques before performing invasive procedures.     

A case of axillary kaposiform hemangioendothelioma resembles a soft tissue sarcoma

Kaposiform hemangioendothelioma is a rare, aggressive vascular proliferation in children that is clinically and histologically distinct from hemangioma of infancy. It is often complicated with Kasabach-Merritt syndrome. The authors describe a 2-month-old girl who developed a rapidly enlarging deep subcutaneous solid tumor in the left axilla. The tumor size was about 10x7 cm and there was no skin change over the mass. The results of laboratory tests were significant for a moderate anemia (7.0 g/dL) and a profound thrombocytopenia (3x10/L). The preoperative radiologic findings were suspicious for a soft tissue sarcoma with scapular erosion. Anemia and thrombocytopenia were corrected by preoperative corticosteroid therapy and blood component transfusion. The tumor was excised totally and the pathologic findings were consistent with Kaposiform hemangioendothelioma. Serial blood examinations showed that the hemoglobin and platelet count returned to the normal range after surgery.     

Living donor liver transplantation for giant cavernous hemangioma of liver in a child

Sood D, Mohan N, Singh A, Buxi TBS, Nundy S, Soin AS. Living donor liver transplantation for giant cavernous hemangioma of liver in a child.
Pediatr Transplantation 2011: 15: E135–E139. © 2010 John Wiley & Sons A/S. Abstract: A 10‐yr‐old girl presented with a seven‐month history of upper abdominal discomfort and weight loss. Physical examination revealed an abdominal lump in the right hypochondrium and epigastrium. Ultrasound examination and a computerized tomographic scan showed a large lobulated mass arising from segments I, 1V, and VIII of liver with arteriovenous shunting and multiple small masses in segments VI and VII. An initial diagnosis of hemangioendothelioma with metastasis was made elsewhere following which she received chemotherapy. She had persistent abdominal discomfort because of which she became dependent on narcotics. The patient had fever because of tumor necrosis and also developed peripheral neuropathy. Finally, owing to progressively worsening of symptoms, she underwent left lobe living donor liver transplantation. Histopathological examination showed the mass to be a cavernous hemangioma, and the patient is now well.     

Symptomatic hepatic hemangioendothelioma in a newborn

A case of hepatic hemangioendothelioma presenting as congestive cardiac failure in a neonate is reported. There was also evidence of platelet consumption. The case was managed successfully with oral prednisolone, resulting in improvement of symptoms and tumor regression over 3 months.     

Studies of the RB7 Gene and the p53 Gene in Human Osteosarcomas

We analyzed 14 native osteosarcoma tissue samples for alterations of the tumor suppressor genes RB1 and p53 on the DNA level, and as far as possible, the RNA level. Southern blot analyses concerning both tumor suppressor genes were carried out in all osteosarcomas. In two cases we could demonstrate a deletion within the RB1 gene. DNA analysis of a third osteosarcoma patient revealed a rearrangement of the p53 gene.

We had the opportunity of performing corresponding northern analyses in eight native osteosarcoma specimens. The RB1 gene expression was significantly decreased or completely absent in six tumor samples. In two of these tissue probes the expression of both tumor suppressor genes was missing. We determined coexistence of decreased expression of both tumor suppressor genes in one additional case.

In summary, 7/14 or 6/8 cases of osteosarcomas (including only those cases which allowed both analyses) showed RB1 gene alteration. In 3/14 or 3/8 osteosarcomas we could determine p53 gene abnormalities. This may indicate that either loss of p53 function is etiologically important only for the development of some osteosarcomas, or a major part of p53 gene mutations are subtle ones and their detection requires more sophisticated techniques, which are currently under development.     

Hemangioendothelioma of the hepatobiliary system: the classic and the unusual

Two children are reported with hemangioendothelioma of the hepatobiliary system. One patient, a 7-month-old girl, presented with classic symptomatology of hepatomegaly and congestive heart failure, but did not have any cutaneous lesions. She was treated with systemic steroids and supportive therapy and did very well. The other patient, a 22-month-old boy, is the first patient reported with exclusive involvement of the extrahepatic biliary tree. His symptoms included hepatomegaly and obstructive jaundice. He was evaluated with an endoscopic retrograde cholangiopancreatogram and a transhepatic cholangiogram. He did very well after resection of the lesion and Roux-en-Y drainage of the proximal biliary tree and remains asymptomatic 2 years after surgery.     

Clonality analysis of pediatric multiple tumors: two case reports and laboratory investigation

We examined the possibility of using microsatellite and mitochondrial DNA polymorphisms as markers to detect the clonal origin of tumor cells found in the same patient. We considered two children with complex tumor diseases: one with supratentorial primitive neuroectodermal tumors (PNET) and a hepatic rhabdoid tumor and another with brain and abdominal rhabdoid tumors. In the first patient we found an mtDNA cytosine insertion both in the normal tissue and in the primary tumor, whereas in the hepatic tumor we detected an insertion of 2 cytosine. In the second child, who had a constitutional mutation of hSNF5/INI-1, we identified the same mtDNA pattern both in normal tissue and in the abdominal tumor but not in the brain tumor, which presented three different mtDNA polymorphisms. Thus, we demonstrated the same clonal origin for tumors in the first patient and different clonal origins of the tumors in the second patient. At times it is very difficult to discriminate two neoplastic lesions or metastatic diseases by using only histopathologic techniques. Molecular examination of clonality is a useful tool to obtain information about the origin of synchronous and/or metachronous tumors found in the same patient.     

Intra-abdominal Kaposiform hemangioendothelioma and the benefits of laparoscopic surveillance

We report a case of a neonate presenting with the rare vascular tumor, Kaposiform hemangioendothelioma. She had a lesion arising from the left ovary with multiple intraperitoneal metastases causing small bowel obstruction. We managed this case with primary surgical resection followed by laparoscopic surveillance of the peritoneal cavity and metastectomy. The child is fit and well and free of tumor after 32 months. Neither this presentation of this tumor nor this management approach has been previously described in the literature.     

Magnetic resonance imaging of infantile hemangioendothelioma

Infantile hemangioendothelioma is the most common benign hepatic tumor during infancy and also follows a benign course. During the routine physical examination of a 10-month-old female patient, masses of the liver were incidentally found. Laboratory studies revealed elevated liver function tests but normal alpha-fetoprotein level. Following the ultrasound (US) examination that demonstrated multiple hypoechoic liver masses, we performed magnetic resonance imaging (MRI) for further characterization of these lesions. Imaging features of the lesions were thought to be consistent with infantile hemangioendotheliomas especially based on dynamic post-contrast images. Although the patient's clinical condition was stable and she did not have any serious symptoms indicating congestive heart failure or coagulopathy, in terms of having a definitive diagnosis and ruling out a malignancy, a tru-cut liver biopsy was performed and histopathological examination confirmed the diagnosis.     

后腹膜卡波西样血管内皮瘤诊疗分析

目的 通过分析后腹膜卡波西样血管内皮瘤的诊治过程,探讨该类疾病的诊断与治疗方法.方法 复旦大学附属儿科医院外科近年来成功治疗后腹膜卡波西洋血管内皮瘤伴血小板减少患儿2例,回顾性分析2例患儿的病史及诊疗经过.结果 1例患儿肿瘤位于后腹膜,表现为后腹膜巨大占位性病变,伴血小板减少,被误诊为神经母细胞瘤.1例表现为顽固血便,血小板减少,被误诊为出血性肠炎.2例患儿诊断过程复杂,经多科会诊得以确诊.在治疗初期激素治疗有效,但迅速出现耐药和病情反复.采用长春新碱（Vincristine,VCR）治疗后病情得到控制,撤离激素,血小板均恢复至正常范围,肿块消失.结论 后腹膜卡波西样血管内皮瘤临床罕见,最常见的并发症是血小板减少.该病诊断困难,容易误诊.VCR治疗有效,部分患儿可完全缓解.规范化和个体化的治疗非常必要.