Alveolar soft part sarcoma occurring on the abdominal wall of a 2-year-old child

Alveolar soft part sarcoma (ASPS) is a rare soft tissue malignant neoplasm that affects young people. It can occur in any region of the body and at any stage of development. But ASPS on the abdominal wall is rarely reported. However, a few cases were reported in children under the age of 10 years. In this study we report a case of ASPS that occurred on the abdominal wall of a 2-year-old patient.     

Alveolar soft-part sarcoma responsive to intensive chemotherapy

Alveolar soft-part sarcoma (ASPS) is a very rare malignant tumor, usually of the extremities, and is seen most often in adolescents and young adults. Surgical excision of the primary and pulmonary metastases has resulted in prolonged survival in some patients, but adjuvant radiation and/or chemotherapy are generally thought to be ineffective. The authors describe a 13-year-old patient with ASPS of an extremity who presented with multiple bilateral pulmonary metastases at diagnosis. Following intensive multiagent chemotherapy, pulmonary metastases showed in vivo evidence of tumor death. The patient has remained disease-free for 10 years following treatment.     

Antiangiogenic treatment as a pre-operative management of alveolar soft-part sarcoma

Alveolar soft-part sarcoma (ASPS) is a rare tumor. Cure is based solely on radical surgery. The general prognosis is poor. The tongue is an unusual site in adults, but not in children. Tumor removal can cause a severe impact on quality of life, even if reconstruction is possible. ASPS is a highly vascularized tumor and antiangiogenic therapy may have a role. We describe the use of the antiangiogenic combination bevacizumab and celecoxib in the preoperative management of a patient with an ASPS of the tongue.     

Paediatric and adolescent alveolar soft part sarcoma: A joint series from European cooperative groups

Background

Alveolar soft part sarcomas (ASPS) are generally chemo‐ and radio‐resistant mesenchymal tumours, with no standardized treatment guidelines. We describe the clinical behaviour of paediatric ASPS and compare these features to previously reported adult series.

Patients and Methods

The clinical data of 51 children and adolescents with ASPS, prospectively enrolled in or treated according to seven European Paediatric trials were analysed.

Results

Median age was 13 years [range: 2–21]. Primary sites included mostly limbs (63%). IRS post‐surgical staging was: IRS‐I (complete resection) 35%, II (microscopic residual disease) 20%, III (gross residual disease) 18% and IV (metastases) 27%. Only 3 of the 18 evaluable patients (17%) obtained a response to conventional chemotherapy. After a median follow‐up of 126 months (range: 9–240), 14/18 patients with IRS‐I tumour, 10/10 IRS‐II, 7/9 IRS‐III and 2/14 IRS‐IV were alive in remission. Sunitinib treatment achieved two very good partial responses in four patients. Ten‐year overall survival (OS) and event free survival (EFS) was 78.0 ± 7% and 62.8 ± 7% respectively. Stage IV, size >5 cm and T2 tumours had a poorer outcome, but only IRS staging was an independent prognostic factor.

Conclusions

ASPS is a very rare tumour frequently arising in adolescents and in the extremities, and chemo resistant. Local surgical control is critical. ASPS is a poorly chemo sensitive tumour. For IRS‐III/IV tumours, delayed radical local therapies including surgery are essential. Metastatic patients had a poor prognosis but targeted therapies showed promising results. Pediatr Blood Cancer 2013;60:1826–1832. © 2013 Wiley Periodicals, Inc.     

LYMPHOKINES POST AUTOLOGOUS PERIPHERAL BLOOD STEM CELL TRANSPLANTATION IN CHILDREN

Malignant ectomesenchymoma (MEM) is a rare soft tissue tumor believed to arise from a pluripotent migratory neural crest cell and composed of both a mesenchymal element and a neuroectodermal element. The authors report the case of an 11-month-old male who presented with a local abdominal MEM and systemic metastases into lungs, liver, bones, and bone marrow. This is the first reported case of an MEM with initial bone marrow dissemination. The tumor consisted of a neuroblastoma component and a mesenchymal component with sarcomatous features. Diagnosis and therapy were complicated by the histological heterogeneity of the tumor, which also influenced the clinical appearance and course in this case. A literature search revealed 15 other evaluated cases that arose in soft tissue and had adequate clinicopathologic data. Complete surgical resection was the mainstay of treatment, and chemotherapy also appeared to be important. In all reported patients ( n = 3) with initial metastases or bone marrow dissemination, as in this case, no cure could be achieved. In patients with disseminated MEM, new therapeutic approaches such as high-dose chemotherapy followed by stem cell rescue should be considered, similar to the current strategy in patients with stage IV neuroblastoma or soft tissue sarcoma.     

DISSEMINATED MALIGNANT ECTOMESENCHYMOMA (MEM): Case Report and Review of the Literature

Malignant ectomesenchymoma (MEM) is a rare soft tissue tumor believed to arise from a pluripotent migratory neural crest cell and composed of both a mesenchymal element and a neuroectodermal element. The authors report the case of an 11-month-old male who presented with a local abdominal MEM and systemic metastases into lungs, liver, bones, and bone marrow. This is the first reported case of an MEM with initial bone marrow dissemination. The tumor consisted of a neuroblastoma component and a mesenchymal component with sarcomatous features. Diagnosis and therapy were complicated by the histological heterogeneity of the tumor, which also influenced the clinical appearance and course in this case. A literature search revealed 15 other evaluated cases that arose in soft tissue and had adequate clinicopathologic data. Complete surgical resection was the mainstay of treatment, and chemotherapy also appeared to be important. In all reported patients ( n = 3) with initial metastases or bone marrow dissemination, as in this case, no cure could be achieved. In patients with disseminated MEM, new therapeutic approaches such as high-dose chemotherapy followed by stem cell rescue should be considered, similar to the current strategy in patients with stage IV neuroblastoma or soft tissue sarcoma.     

Ikterus, Juckreiz und Gallengangerweiterung

Cholestasis in childhood that is associated with dilatation of the biliary tree is typically caused by gallstones, a choledochal cyst, or a tumor. This case report illustrates the difficulty in finding the correct diagnosis. The rhabdomyosarcoma of the biliary tree is a very rare soft tissue tumor. To avoid misinterpretation as a choledochal cyst, changes of the pancreaticobiliary system should be discerned in various imaging modalities.     

Alveolar soft-part sarcoma: a rare soft-tissue malignancy with distinctive clinical and radiological features

Alveolar soft-part sarcoma (ASPS) is a rare tumour. Certain distinctive clinical and radiological features suggest the correct diagnosis. There is moderate predilection for young women. ASPS almost always arises in skeletal muscle and occurs most frequently in the lower limbs. There is often a long clinical history and a large mass at presentation. Two young females with ASPS presented with very vascular tumours in the thigh, with prominent intra- and extra-tumoural blood vessels. The imaging findings and the existing literature are reviewed. Received: 10 February 1999 Accepted: 24 April 2000     

Pediatric diffuse lipoblastomatosis of the foot -- a case report and review of the literature.

Diffuse lipoblastomatosis is a rare lipomatous tumor of infancy that derives from fetal-embryonal fat. It usually affects infants and children and presents as a superficial mass that extends from the subcutis to the underlying muscle in the upper or lower extremities. In spite of its benign nature, the tumor may behave in a locally aggressive manner and invade the surrounding tissues. A case of isolated diffuse lipoblastomatosis of a 5-year-old boy in the plantar aspect of his right foot that has not been documented in that area before is described. The clinical and radiological presentation and histologic evaluation of diffuse lipoblastomatosis are discussed, in order to make a differential diagnosis between this rare tumor and other soft tissue tumors. In addition, the treatment principles of the tumor are described. This case demonstrates that diffuse lipoblastomatosis can be difficult to diagnose without histologic evaluation and, once diagnosed, should be treated by adequate surgical excision in order to prevent recurrence.     

儿童内脏非横纹肌肉瘤软组织肉瘤的治疗探讨

目的探讨儿童内脏非横纹肌肉瘤软组织肉瘤的诊治要点。方法2004年7月至2010年7月我们收治儿童内脏非横纹肌肉瘤软组织肉瘤10例,其中男性7例,女性3例,年龄最大12岁,最小2岁。结果10例患儿中,手术后病理类型包括滑膜肉瘤1例,婴儿型纤维肉瘤2例,促结缔组织增生性小圆细胞肿瘤（DSRCT）1例,淋巴管平滑肌肉瘤1例,腹膜后平滑肌肉瘤1例,大网膜脂肪肉瘤1例,原始神经外胚叶肿瘤3例。肿瘤直径均〉5cm,以手术、化疗或放疗综合治疗为原则,其中淋巴管平滑肌肉瘤1例,腹膜后平滑肌肉瘤1例,大网膜脂肪肉瘤1例手术完整切除,术后定期随访,未作放疗和化疗。其他7例手术后辅助化疗和放疗。所有病例最长随访时间7年,最短15个月,平均随访时间（41．3±23．19）个月。结论内脏非横纹肌肉瘤软组织肉瘤因部位及肿瘤大小而影响手术完整切除,提高手术切除的技能、寻找更加有效的化疗和放疗是内脏NRSTS今后治疗的方向。     

Progressive Osseous Heteroplasia, Uncommon Cause of Soft Tissue Ossification: A Case Report and Review of the Literature

We report a case of an uncommon, recently described disease manifesting shortly after birth, characterized by extensive soft tissue calcification with ossification, progressive osseous heteroplasia. We describe the complex histopathologic patterns present in this case, discuss the main differential diagnoses that the surgical pathologist must consider when confronted by soft tissue ossification, and review the pertinent literature. We conclude that although the morphologic patterns of ossification in progressive osseous heteroplasia are complex and the involvement is extensive, the morphology of the lesions lacks diagnostic specificity. The diagnosis must be based on a consideration of the combined clinical data and radiologic and pathologic findings. This approach alone makes it possible to exclude a number of clinicopathologic entities that manifest with so-called osteoma cutis but whose associated lesions and genetic implications are different.     

Malignant fibrous histiocytoma in the abdominal soft tissues of a child: A case report

An 18-month-old female presented with an abdominal tumor mass which on morphological, immunohistological and ultra-structural examination was found to be a malignant fibrous histiocytoma. This soft tissue sarcoma is rarely encountered in childhood. Treatment in this case consisted of surgical tumor debulking with pre- and post-operative chemotherapy. The child is well and free of detectable tumor at 23 months after diagnosis.     

Malignant fibrous histiocytoma in the abdominal soft tissues of a child: a case report.

An 18-month-old female presented with an abdominal tumor mass which on morphological, immunohistological and ultrastructural examination was found to be a malignant fibrous histiocytoma. This soft tissue sarcoma is rarely encountered in childhood. Treatment in this case consisted of surgical tumor debulking with pre- and post-operative chemotherapy. The child is well and free of detectable tumor at 23 months after diagnosis.     

Lipofibromatosis in a two-year-old girl: a case report

Lipofibromatosis is a recently described rare benign soft tissue tumor of childhood. We report a case of a lipofibromatosis in a two-year-old girl with a painless mass on the plantar aspect of her right foot who developed local recurrence eight months after surgery. The tumor has a high rate of non-destructive recurrence, but there is no metastatic potential. Complete surgical resection is the mainstay of treatment. Nevertheless, the rareness of its presentation should be taken into account by the pediatric pathologist, and considerable surgical judgment is of great importance.     

类似胆总管囊肿的胆总管横纹肌肉瘤：阻塞性黄疸的罕见原因

肝外胆道肿瘤罕见,其中以横纹肌肉瘤最常见。横纹肌肉瘤是一种软组织恶性肌肉骨骼肿瘤,是儿童非常罕见的一种胆总管恶性肿瘤。它通常表现为阻塞性黄疸和/或瘙痒。如果肿瘤没有局部浸润邻近组织,其影像学表现则类似胆总管囊肿。因此,确诊通常是在手术时或术前通过活检。早期诊断、与胆总管囊肿鉴别、尽早开始治疗对延长患者生存时间有重要意义。该文报道1例10岁男童,反复阻塞性黄疸和发热,术前诊断为胆总管囊肿,术后确诊为胆总管胚胎性横纹肌肉瘤。经手术切除、术后化疗,该患儿预后良好。故必须了解这种罕见的肿瘤可以类似先天性胆总管囊肿,并且在儿童阻塞性黄疸的鉴别诊断时应加以考虑。     

Primitive neuroectodermal tumor arising in long-standing cerebellar atrophy

Primitive neuroectodermal tumors (PNETs) account for one fifth of childhood brain tumors. Although little is known of the pathobiology of this tumor type, there are associations with both genetic syndromes and exposures to specific environmental agents. Progressive cerebellar atrophy predating the presentation of a primary brain tumor, in the absence of a genetic syndrome, has not been reported with PNETs. We report a case of a posterior fossa PNET occurring in association with long-standing cerebellar atrophy without evidence of a genetic syndrome. This case may represent an unrecognized paraneoplastic syndrome or a unique subtype of PNET.