Vascular Tumors of the Heart in Infants and Children: Case Series and Review of the Literature

Primary tumors of the heart are rare in children, of which vascular tumors comprise a small subgroup. We present the clinical, histopathologic, and imaging findings in six children with vascular tumors of the heart and review the findings of 36 previously published cases. We observed three intramuscular hemangiomas of the small-vessel type in older children, two congenital hemangiomas in infants, and one malignant polymorphous hemangioendothelioma. Intramuscular hemangiomas did not respond to corticosteroid and were biologically distinct from the congenital hemangiomas, both of which exhibited regression with pharmacotherapy. Age at diagnosis appears to predict histologic type, tumor location, and clinical presentation.     

Congenital minor salivary gland sialoblastoma: a case report and review of the literature

Sialoblastoma is the most common epithelial tumor of the salivary gland. We report a case of congenital sialoblastoma arising in a minor salivary gland of the buccal mucosa of a male infant. After radiologic evaluation, an incisional biopsy was performed and then the mass was excised en bloc. Histologic features were both favorable and unfavorable. However, there was no recurrence for 5 months. In spite of a reported histologic grading system, the clinical course of isolated sialoblastoma is considered unpredictable. More published case reports of this rare tumor may enable histologic and clinical correlation in order to accurately predict prognosis.     

Intra-abdominal extralobar pulmonary sequestration

A left-upper-quadrant abdominal mass was identified in a routine ultrasound (US) examination in the 16th week of gestation. The sonographic features were those of a homogeneous, hyperechogenic lesion situated between the diaphragm and the left kidney. Other radiologic examinations (CT, MRI) confirmed the mass, but a presumptive diagnosis could not be made. The lesion was excised and histologic examination demonstrated an extralobar pulmonary sequestration. Although it is an uncommon type of congenital malformation, pulmonary sequestration should be included in the differential diagnosis when an echogenic intraabdominal mass is detected on antenatal US.     

先天性肝纤维化的诊断与治疗

介绍临床以肝脾肿大、门脉高压、上消道出血为主要症状的一种少见的遗传病一先天性肝纤维化的概念、诊断与治疗。１９９３年以来收治先天性肝纤维化３例，均经临床及病理证实，行脾切除、贲门胃底断流术。术后随访１～３年，患儿发育、营养佳，无再出血，肝功能正常，近期疗效满意。复习文献结合本组病例诊治认为，临床发现肝脾肿大、门脉高压、肝内胆管多发性扩张、肝功能基本正常者应想到该病。肝脏组织学特点为汇管区纤维增生明显，肝小叶结构正常。为预防术后并发症应早期诊断，及时治疗。     

Congenital neuroblastoma in a patient with partial trisomy of 2p

We report the fourth example of a patient with germline partial trisomy of 2p21-pter and congenital neuroblastoma. The male infant had a dysmorphic facial expression and presented with congenital heart disease, supernumerary nipples, hypospadias, shawl scrotum, hemilateral persistent hyperplastic primary vitreous, and neuroblastoma. His germline karyotype of 46,XY,der(8)t(2;8)(p21;p23.2) was inherited from a maternal-balanced translocation, which indicates that the proto-oncogene MYCN region of 2p24.3 is tripicated in germline cells. A cytogenetic study of the biopsied tumor cells did not show MYCN amplification, but the DNA index was 2.4 and histologic fluorescent in situ hybridization analysis indicated somatic mutation with near-pentaploidy of the tumor cells. This could be an alternative mechanism of MYCN activation in the process of the tumorigenesis of neuroblastoma.     

Congenital hybrid basal cell adenoma--adenoid cystic carcinoma of the salivary gland

A congenital parotid gland tumor involving the facial nerve was excised, revealing histologic and ultrastructural features of a basal cell adenoma and adenoid cystic carcinoma. An asynchronous regional metastasis was successfully eradicated with adriamycin. Seven other similar appearing tumors occurring in neonates are documented in the literature and serve to establish this tumor as a clinicopathologic entity. The surrounding parotid gland had "dysplastic" changes attributed to obstruction during morphogenesis.     

Congenital renal rhabdoid tumor with placental metastases: immunohistochemistry, cytogenetic, and ultrastructural findings.

Malignant congenital tumors of fetal origin are rare lesions, the most common type being congenital neuroblastoma. Although prenatal diagnosis is possible in large tumors, occasionally the tumor will be diagnosed first by its metastatic involvement of the placenta. Placental metastases can reflect either maternal or fetal primary sites, and each has relatively specific patterns of placental involvement. We describe the clinical and pathologic features of a widely metastatic congenital renal rhabdoid tumor with its placental and autopsy findings, and include the immunohistochemical, cytogenetic, and ultrastructural features. The pathologic features of the placenta in congenital renal rhabdoid tumor with placental metastasis have not been previously described. The examination of the placenta in this case led to the initial diagnosis and obviated the need for additional diagnostic procedures.     

Primary pericardial synovial sarcoma confirmed by molecular genetic studies: a case report

Primary pericardial synovial sarcoma is an extremely rare tumor. The awkward tumor site and clinical features associated with quite advanced disease at presentation make obtaining adequate biopsy material challenging. Ambiguous histologic features may also make diagnosis difficult. We present a case of a 15-year-old patient with an original diagnosis of a spindle cell thymoma. After definitive surgery the diagnosis was amended to a primary pericardial synovial sarcoma. Molecular confirmation of the SYT-SSX fusion gene was critical in reaching an accurate diagnosis. This highlights the necessity for routine molecular genetic studies, so that patient therapy can be directed accordingly.     

Inv(11)(p13p15) and myf-3(MyoD1) in a malignant extrarenal rhabdoid tumor of a premature newborn

We present a premature newborn of 32 wk of gestation with a congenital malignant extrarenal rhabdoid tumor (MERT) on the right shoulder with generalized metastases. Standard histologic, immunohistochemical, molecular and cytogenetic methods were used in the evaluation of diagnostic material. Biopsy of a skin lesion showed the histologic features of a malignant rhabdoid tumor. Cytogenetic analysis of the tumor cells revealed an inv(11)(p13p15) and additionally, an increased expression of myf-3 (myogenic determination factor, MyoD1) and PAX3 was detected. These results suggest an origin of the neoplasm derived from a pluripotent cell with the potential of myogenic differentiation. Tumor suppressor genes located on chromosome 11p13 and 11p15 may play an important role for malignant rhabdoid tumor development and progression.     

Adrenal tumor presenting as precocious puberty

We present a case report of a two and a half-year-old boy who presented with precocious puberty. A clinical diagnosis of congenital adrenal hyperplasia wad made. Patient was investigated and found to have an adrenocortical tumor. The tumor was about 7 cms in diameter. The tumor was secreting androgens, 17OHP and cortisol. This is an unusual array of hormones to be secreted by an adrenal tumor.     

Giant congenital nevus with plexiform neurofibroma and malignant peripheral nerve sheath tumor

A female patient with a giant congenital nevus associated with plexiform neurinoma and malignant peripheral nerve sheath tumor (MPNST) on head and neck is presented. We theoretically discuss possibilities of mutual origin all three entities, including the Boland theory of neurochristopaty. The clinical, surgical, and histologic aspects of the disease are discussed. Only one similar case in written literature was described.     

先天性高胰岛素血症5例临床分析

目的　分析 5例先天性高胰岛素血症患儿的临床资料 ,探讨其早期诊断和治疗问题。方法　回顾性分析 5例先天性高胰岛素血症患儿的临床资料。结果　 5例临床表现除抽搐外 ,尚有发绀、呼吸暂停、饥饿感和多汗等 ,实验室检查有持续性低血糖和高胰岛素血症 ,胰腺病理均为胰岛细胞增殖。 5例经胰腺 95 %次全切除术后 ,血胰岛素和血糖逐渐恢复正常 ,4例治愈 ,随访 3例有继发性癫疒间 后遗症 ,1例失访 ;另 1例术后 1个月死于败血症。结论　先天性高胰岛素血症可通过血糖监测、血胰岛素和尿酮检查作出早期诊断 ,胰腺 95 %次全切除术治疗有效。     

INFLAMMATORY MYOFIBROBLASTIC TUMOR OF THE GASTROESOPHAGEAL JUNCTION IN CHILDHOOD

We report an unusual case of an inflammatory myofibroblastic tumor arising at the gastroesophageal junction in a 14-year-old girl. The bland histologic appearance with concurrent infiltration into adjacent structures made diagnostic interpretation difficult, but suggested a neoplastic process. A literature review was undertaken to address diagnostic and management issues raised in this case. Although the anatomic location was unusual, clinical, gross, histopathologic, and immunohistochemical data substantiated the diagnosis of inflammatory myofibroblastic tumor. The bland histologic appearance was consistent with the most widely accepted view of inflammatory myofibroblastic tumor as a low-grade neoplasm. Wide surgical excision was performed. This is considered the preferred treatment given the potential risk of recurrence and aggressive behavior, most frequently noted with extrapulmonary disease. Although inflammatory myofibroblastic tumor represents an heterologous spectrum of benign to malignant neoplastic proliferations, the prognosis is good in cases with benign histologic features.     

Endoscopic diagnosis of a gastric heterotopic pancreas and esophageal atresia: an incidental association?]

Heterotopic or aberrant pancreas is a rare congenital anomaly, usually asymptomatic. The preoperative diagnosis is difficult but most cases of gastric ectopic pancreas have a unique appearance that often makes possible a diagnosis in the absence of histologic confirmation. A well-delineated submucosal, firm mass with central umbilication is characteristic of gastric ectopic pancreas. To the best of our knowledge, the association of esophageal atresia and gastric heterotopic pancreas has never been reported previously. CASE REPORTS: We report two cases of heterotropic pancreas associated with esophageal atresia. Both diagnoses were incidental findings and concerned children operated on at birth for esophageal atresia. Although a definitive diagnosis is histologic, the endoscopic appearance made it possible to maintain this diagnosis. CONCLUSION: Some symptoms have been attributed to ectopic pancreas, and malignant degeneration has been reported in adults. Management continues to be debated: some authors recommend surgical resection while others, as we do, prefer initial therapeutic abstention.     

Congenital Hybrid Basal Cell Adenoma—Adenoid Cystic Carcinoma of the Salivary Gland

A congenital parotid gland tumor involving the facial nerve was excised, revealing histologic and ultrastructural features of a basal cell adenoma and adenoid cystic carcinoma. An asynchronous regional metastasis xvas successfully eradicated with adriamycin. Seven other similar appearing tumors occurring in neonates are documented in the literature and serve to establish this tumor as a clinicopathologic entity. The surrounding parotid gland had “d\s-plastic” changes attributed to obstruction during morphogenesis.     

Primitive neuroectodermal tumor of the pancreas. An extremely rare tumor. Case report and review of the literature

Peripheral primitive neuroectodermal tumor (PPNET) is a malignant neoplasm of the peripheral nervous system and soft tissues. Representing the fourth case published we herein report a PPNET arising in the pancreas of a six year old girl. She presented with severe anemia due to ulcerative tumor growth and hemorrhage into the duodenum. From the first biopsy pancreatoblastoma was considered as histological diagnosis. Therefore pancreato-duodenectomy was successfully performed. Immunohistochemically, the tumor cells were positive for cytokeratines and several neuronal markers. Due to focal membranous staining for MIC-2 gene product and rosettes in one lymph node metastasis the diagnosis had to be altered into PPNET. This was confirmed by cytogenetic analysis. We conclude that the interpretation of histologic sample excisions from pediatric pancreatic neoplasms may be difficult and that PPNET should be included in the differential diagnosis.     

Congenital dermatofibrosarcoma protuberans in a newborn infant with a massive back tumor: favorable effects of oral imatinib on the control of residual tumor growth

Dermatofibrosarcoma protuberans (DFSP) is known as a very rare malignant tumor of the deep dermis and subcutaneous tissue. It typically develops during adolescence and adulthood, with pediatric and infantile cases, particularly congenital ones, being much less frequent. We report a neonate with congenital DFSP. A newborn girl presented with a massive back tumor at birth. The tumor was at first suspected to be infantile fibrosarcoma (IFS) after immunohistochemical analysis of biopsy material, although the results were not fully compatible with IFS. She received chemotherapy under a tentative diagnosis of IFS, but this was unsuccessful. Partial resection was therefore performed at the age of 8 months to reduce the tumor mass and to reexamine its immunohistochemical characteristics. Positive CD34 staining and Collagen α1α/platelet-derived growth factor beta chimera gene signals on analysis of the excised tumor tissues enabled a definitive diagnosis of DFSP. She then underwent local irradiation and was given a daily dose of oral tyrosine kinase inhibitor (imatinib). After almost 1 year, the patient is doing well without enlargement of the residual tumor.     

婴幼儿肌纤维瘤病的临床病理学观察

目的 探讨婴幼儿肌纤维瘤病的临床病理特征、诊断及鉴别诊断.方法 12例患儿均以无痛性肿块为主要表现,发病的中位数年龄为4.5个月,病变以头颈部、肩背部、腋下及腿等浅表部位多见;手术切除标本采用HE染色及免疫组织化学技术进行病理学观察,并结合临床资料进行分析.结果 12例患儿都采用了肿瘤完整切除,术后无放疗、化疗,手术切除标本组织学表现:肿瘤大部分由短梭形的、胞质嗜伊红的细胞构成,排列呈螺旋状或束状,肿瘤内血管丰富,呈血管外皮瘤样结构,并见部分血管腔内肿瘤生长,局部见坏死和核异型;免疫组化:肿瘤细胞Vim(+),CD34(+),SMA(+),Des(-),S-100蛋白(-);术后临床平均随访时间约4年,2例出现复发,进行了再次手术,无恶性变发生.结论 婴幼儿肌纤维瘤病是少见的先天性疾病,临床上多表现为体表孤立或多发性无痛性结节,病理学形态复杂,鉴别诊断范围广,本病有一定自限性,局部切除可治愈,但有一定的复发率.     

Tumor size as a predictor of outcome in pediatric non-metastatic osteosarcoma of the extremity

BACKGROUND: Better predictors of outcome would allow improved risk-adapted therapy for pediatric nonmetastatic osteosarcoma of the extremity. We investigated the predictive value of MR imaging-based measures of absolute and relative tumor size and volume at the time of diagnosis. We also assessed the relation of tumor size to age and histologic response. METHODS: We retrospectively abstracted demographic, treatment history, and outcome information of patients treated on a single institutional protocol. A single pediatric oncologic radiologist manually measured each primary lesion and the affected native bone in three dimensions on MR images obtained at the time of diagnosis. Eight parameters of tumor size were analyzed for their value in predicting overall survival (OS) and event-free survival (EFS). RESULTS: The median age of the 42 patients was 13.5 years (range: 5.9-18.7 years); 50% were female and 74% were Caucasian. Absolute tumor volume was an important predictor of OS (P < 0.05); absolute tumor depth (analyzed as a continuous variable) was a significant predictor of OS (P = 0.018) and EFS (P = 0.036). Relative measures of tumor size were not found to predict outcome. No relation was seen between tumor size and histologic response. CONCLUSIONS: Absolute tumor size at the time of diagnosis is significantly predictive of OS and EFS. If validated in a larger study, this indicator should be used in the design of risk-adapted treatment protocols for osteosarcoma.     

Pyogenic granuloma presenting as a congenital epulis

OBJECTIVE: To describe a clinical approach to the differential diagnosis of oral lesions in neonates. DESIGN: Case report. SETTING: Academic ambulatory care center. PARTICIPANTS: Male infant. RESULTS: A gingival mass in a male infant appeared clinically consistent with a congenital epulis. Following excision and histologic examination, the diagnosis was determined to be a pyogenic granuloma. Careful attention to alternative diagnoses led to the correct etiology. CONCLUSIONS: Primary care pediatricians encounter neonatal oral lesions infrequently. The most common oral lesions in the newborn period are Epstein pearls and Bohn nodules. This case illustrates the importance of formulating a more extensive differential diagnosis on discovery of a neonatal oral mass.