Undifferentiated Embryonal Sarcoma with Unusual Features Arising within Mesenchymal Hamartoma of the Liver: Report of a Case and Review of the Literature

Undifferentiated embryonal sarcoma (UES) is a rare and highly malignant hepatic neoplasm, affecting almost exclusively the pediatric population. It has replaced malignant mesenchymoma, under which diagnostic term the first three cases were described. A link between embryonal sarcoma and mesenchymal hamartoma of the liver (MHL) has long been proposed, because of clinicopathologic overlaps of these entities; however, until recently, this association remained tenuous. Cases of UES arising in a background of mesenchymal hamartoma of the liver have previously been reported in two teenage girls. Discovery of a similar genetic abnormality in MHL and UES has clinched the supposed link between them. There have also been two reports of UES with prominent cystification, one associated with peripheral eosinophilia, and thereby masquerading as hydatid cyst of the liver. We report a case of UES arising in a young boy with MHL, with unusual histologic features, including large mesothelial-lined cysts and ectopic adrenal cortical tissue under Glisson's capsule. Received May 19, 2000; accepted January 31, 2001.     

Rhabdomyomatous Mesenchymal Hamartoma of Skin

A distinctive dermal and subcutaneous hamartoma composed primarily of disorganized skeletal muscle and mature adipose tissue, designated rhabdomyomatous mesenchymal hamartoma of skin, was recently reported. We have observed two histologically similar though less polypoid lesions in boys aged 4 years. Both were also on the chin and present since birth, suggesting that site and age, as well as histology, may be characteristic. The location on the chin in three of the four neonates may reflect an etiology of aberrant embryologic development of the platysma muscle as it inserts superficially into the dermis over the mandible.     

Concurrent Infantile Hemangioendothelioma and Mesenchymal Hamartoma in a Developmentally Arrested Liver of an Infant Requiring Hepatic Transplantation

A newborn female underwent a surgical resection for a hepatic mass discovered prenatally by ultrasonography, and diagnosed pathologically as a mesenchymal hamartoma. Within 4 months after surgery, multiple cutaneous hemangiomas developed and a multinodular mass was detected in the liver. A liver biopsy showed an infantile hemangioendothelioma with type I features. An orthotopic liver transplant was performed due to the extensive nature of the hepatic involvement and progressive respiratory compromise. Virtually the entire liver was involved by a large infantile hemangioendothelioma. A multicystic mesenchymal hamartoma was also found on the left side. In addition, the uninvolved hepatic parenchyma had features recapitulating the fetal liver. This simultaneous involvement of the liver by a mesenchymal hamartoma and infantile hemangioendothelioma is unique. A review of the literature revealed only one incompletely characterized case with similar findings.     

Beckwith-Wiedemann Syndrome with Unusual Hepatic and Pancreatic Features: A Case Expanding the Phenotype

We describe an infant with Beckwith-Wiedemann syndrome (BWS) who had hepatic and pancreatic findings not previously described in BWS. These were biliary dysgenesis and enlargement and cystic dysplasia of the pancreas. The biliary dysgenesis was characterized by proliferation of abnormally shaped ducts in the portal tracts. Massive enlargement and cystic dysplasia of the pancreas was associated with ductular proliferation, virtual absence of normal exocrine tissue, and an increase in endocrine tissue.     

Solitary Unilocular Cyst of the Lung with Features of Persistent Interstitial Pulmonary Emphysema: Report of Four Cases

Neonatal interstitial pulmonary emphysema (IPE) is a well-characterized lesion usually presenting in preterm newborns as a complication of respiratory distress syndrome and/or assisted ventilation. Occasionally, IPE may occur spontaneously in infants with no underlying pulmonary disease. Persistence of IPE (PIPE) may be diffuse or localized. Localized PIPE usually presents as multiple cysts 0.3 to 3 cm in one or more lobes of the lung. In this report, we describe four cases of unilocular large cysts (up to 5 cm in diameter) partially lined by uni- and multinucleated histiocytes in a foreign body type reaction and showing gas dissection of the surrounding parenchyma (present in case 1). These histological features favored the diagnosis of PIPE and the cases were interpreted as such, since no other clear-cut diagnosis could be defined. However, because the lesion was limited to one lobe, and the children were full term, asymptomatic at birth and without history of respiratory distress or assisted ventilation, differential diagnosis with other pulmonary cystic lesions of infancy is mandated. Received July 27, 1998; accepted December 21, 1998.     

Solitary Nonparasitic Cysts of the Liver: The Boston Children's Hospital Experience

A 3-3/12-year-old female child with abdominal distention, new onset pain, and tenderness is described. The child underwent surgical resection of a multilocular cyst of the right lobe of the liver. We reviewed the autopsy and surgical files of Children's Hospital for the past 63 years to identify other congenital cysts of the liver. We found 30 additional cases including 4 multilocular cysts. The origin of these cysts, a review of the literature, and a discussion of diagnostic parameters for the identification of such cysts in context with other hepatobiliary cystic lesions are presented.     

Mesenchymal Hamartoma of the Chest Wall: A Cooperative Study with Review of the Literature

The clinicopathologic features of three examples of mesenchymal hamartoma of the chest wall are described. The entity has been recorded under a number of names including osteochondroma, osteochondrosarcoma, benign chondroblastoma, mesenchymoma, and chondromatous hamartoma. The condition is manifest at birth or shortly thereafter with deformity of the chest wall and respiratory distress. Radiographic examination reveals a well-defined, partly calcified mass involving one or more ribs. The tumor is composed predominantly of chondroid tissue with large endothelium-lined blood spaces and immature mesenchyme with osteoclastic giant cells and osteoid. We review the literature and suggest that the lesion should be distinguished from aneurysmal bone cyst, chondroma, and other mesenchymal neoplasms. In order to avoid local recurrence the recommended treatment is complete surgical resection.     

先天性肺囊肿并右侧张力性气胸1例

1临床资料 患儿，男，18h，因气促、发绀、呻吟16h，加重3h入院。患儿孕37周剖宫产出生，无窒息，出生2h气促、发绀、呻吟，当地医院诊断新生儿肺透明膜病，予鼻塞式持续呼吸道正压（nCPAP）辅助呼吸，出生15h呼吸困难加重，发绀明显，予气管插管呼吸机辅助通气，吸入氧体积分数（FiO2）100％，经皮测血氧饱和度（SpO2）维持在80％左右，出生18h予接气管导管复苏囊加压给氧转诊入院。入院查体：体温37．1℃，脉搏162次／min，     

Mesenchymal Hamartoma of Chest Wall in Infancy Natural History of Two Cases

Two cases of mesenchymal hamartoma of chest wall in infancy are reported. These distinctive and rare lesions arise in the antenatal period, present at birth OT in early life as chest wall masses with marked rib deformation, and may produce respiratory compromise through encroachment on the chest cavities. Histologically composed of chondroid and primitive mesenchymal elements with giant-cell formation, endochondral ossification, and maturation to trabecular bone, they exhibit some features of aneurysmal bone cyst. Because of their cellularity and proliferative appearance, they are often misinterpreted as sarcomas; however, they pursue a benign course and can be well managed surgically. OUT cases possessed multiple chest wall masses that were clinically apparent at birth and sequentially resected over a period of several months, creating an opportunity to document their hitherto unreported histologic evolution. Their pattern of maturation is in keeping with a hamartomous malformation.     

鞍上池先天性囊肿1例

患儿 ,男 ,1d ,过期难产 ,巨大儿 ,孕 4 2周 ,其母在分娩时因胎儿过大 ,脐带绕颈 1周 ,行剖宫产。生后查体 :全身皮肤青灰 ,不哭 ,给予清理呼吸道后始哭。 4h后开始哭闹不安 ,下颌抖动 ,呕吐 2次 ,急转入儿科治疗。查体 :体质量 4 .9kg ,头围 4 9cm ,前囟门 2 .0cm× 2 .0cm ,平坦 ,紧张 ,面色青灰 ,口唇发绀 ,颈有抵抗感 ,三凹征 (+) ,双肺呼吸音粗 ,心率 12 0次 /min ,心音低钝 ,无杂音。腹部平坦、软 ,肝右肋下 1.0cm、质软 ,脾不大。腹部叩诊鼓音 ,肠鸣音正常。四肢肌张力增强 ,拥抱、吸吮反射减弱。其父母非近亲结婚 ,母孕期无感冒及服…     

巨大先天性胆总管囊肿1例

患儿，女，3岁。因腹部不适，逐渐膨大伴腹痛、黄疸二年入院。门诊以“腹部肿物性质待查”入院。家庭史无类似及遗传病患。     

不同年龄胆总管囊肿的临床与肝纤维化特点探讨

目的 探讨不同年龄胆总管囊肿的临床与肝脏纤维化特点与相互关系。方法 分析12例婴儿及36例幼儿、儿童胆总管囊肿的临床资料;肝组织HE染色观察纤维化程度和炎性细胞浸润情况,免疫组化染色观察细胞角化蛋白(AE1/AE3)、人类组织相容性抗原DR(HLA—DR)表达,并与18例胆道闭锁作对照。结果 婴儿胆总管囊肿黄疸出现率12/12,显著高于幼儿儿童组8/36(P<0.01);肝纤维化程度、小叶周边AE1/AE3阳性细胞和HLA—DR在肝脏表达显著高于非婴儿组(P<0.01),低于胆道闭锁组(P<0.01)。肝纤维化程度与黄疸及肝小叶周边AE1/AE3表达分级呈正相关(P<0.05)。结论 婴儿胆总管囊肿以黄疸为主要临床表现,其肝纤维化重于幼儿及儿童组,胆道梗阻和胆小管增生可能是其发生肝纤维化的原因。     

Mesenchymal Hamartoma of the Liver: Report of 30 Cases and Review of the literature

Thirty cases of mesenchymal hamartoma of the liver are presented and compared with 42 previously published cases. The patients, 69% male, range in age from newborn to 10 years (average age 15 months, median age 10 months). Except for occasional cases in which the lesion is an incidental finding at autopsy, most present with progressive abdominal enlargement over a period of days to months. Physical and radiologic examinations are nonspecific except for the demonstration of a mass within or attached to the liver. The masses are large, averaging 1311 g, and frequently contain cysts filled with clear fluid or gelatinous material. Histologic examination shows a mixture of loose mesenchymal tissue, bile ducts, connective tissue, and hepatocytes along with cysts formed either from degenerative areas of mesenchyme or from dilated bile ducts and lympathics. Treatment is partial or total excision of the lesion. Mortality (7-17%) is related to intraoperative or postoperative complications. Recurrence or malignant transformation has not been noted.     

Cutaneous Ciliated Cyst with Interspersed Apocrine Features Presenting as a Pilonidal Cyst in a Child

We present a case of a cutaneous ciliated cyst that presented in a 13-year-old female. The lesion was felt to be a pilonidal cyst, based on its location and clinical appearance. This case is unusual because it is the youngest reported example of this very rare lesion. In addition, the admixture of apocrine and ciliated cells is extremely unusual. The histogenesis of cutaneous ciliated cysts is considered. Received April 13, 2000; accepted July 21, 2000.     

Rat Renal Mesenchymal Tumor as an Experimental Model for Human Congenital Mesoblastic Nephroma: I. Induction

The effect of low-dose (2 Gy) radiation on elhylnitmsourea (ENU)-induced neoplasms was studied in Sprague-Dawley and Holtzman strains of rats. With a 60 mg/kg dose of ENU administered on day 1 in Sprague-Dawley rats, 18.4% of the neoplasms induced were found in the kidney. When the same dose of ENU was given on day 10, the incidence of kidney tumors fell to 2.8%. Prior (2 Gy) radiation on day 9 enhanced kidney tumor induction to 16.1%, a trend also observed in the case of ENU-induced neural tumors. In Holtzman rats, 40 mg/kg ENU induced more kidney tumors (12.5%) when given on day 4 than on day 0, and prior irradiation enhanced the ENU-induced kidney tumors even though the interval between irradiation and carcinogen administration was fairly long—4 days.     

小儿先天性胆总管囊肿并肝脏损害的临床及病理分析

目的 探讨小儿先天性胆总管囊肿(CCC)并肝脏损害的病理基础及临床意义.方法 CCC患儿38例按年龄分为A、B二组,A组(6个月～3岁)24例,8组(4～14岁)14例.对二组临床特点、手术前后肝功能、术中情况及肝脏活组织病理检查等资料进行回顾性分析.结果 临床表现:A组以黄疸、白陶土大便及腹部包块为主,B组以腹痛为主;A组肝功能损害、碱性磷酸酶增高、胆红素增高及凝血功能异常较B组严重 (Pа<0.05);胆总管囊形扩张29例,A组24例,8组5例;梭形扩张9例,均为8组.术中发现:囊肿内有结石、蛋白栓11例,A组8例,8组3例;囊肿远端明显狭窄闭锁32例(84.2%),A组27例,B组5例;远端有明显开口6例,均为B组;肝大、胆汁淤积明显20例,A组15例,B组5例;术中胆总管下端狭窄及梗阻A组较B组明显.肝脏活检结果:肝硬化改变17例,A组12例,B组5例,主要表现为汇管区小胆管及间质纤维组织明显增生,小叶中央胆汁淤积,有大量胆色素沉积,肝细胞变性,正常肝小叶结构被破坏,部分肝细胞萎缩.肝脏活检肝硬化改变A组发生率较B组高.结论 不同年龄组CCC有各自的临床特点,年龄越小,梗阻越重,肝脏损害越重,肝硬变机会越大;胆道梗阻胆汁淤积是肝脏损害的病理基础,早期诊断,早期手术治疗,胆道梗阻解除后肝脏损害可恢复.