Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.     

Giant pleural fibroma

Solitary fibrous tumors of the pleura are uncommon mesenchymal tumors that have been reported in adults. There are very few cases in children. These tumors are considered benign but their behavior is often unpredictable because they can invade nearby structures and transform into malignant variants after several years. Their clinical presentation is diverse but generally asymptomatic and they are detected incidentally in routine radiologic studies. Prognosis depends firstly on resectability of the tumour and secondly on its size, mitotic count, polymorphism, and necrosis within the tumour. Surgical resection is usually curative. Long-term follow-up is recommended because local recurrences can occur after surgery. We report the case of an asymptomatic 15-year-old girl with a giant thoracic mass revealed incidentally on a chest radiograph. Physical examination revealed thoracic asymmetry and no sounds of breathing were found in the right lung. Computerized tomography and magnetic resonance images showed the giant size of the mass. Preoperative fine needle biopsy was performed. Intraoperative biopsy confirmed the diagnosis. Although histologically benign, the tumors may enlarge rapidly. In the present case, because of the localization and size of the tumor, the patient was at increased risk. The tumour was resected and the postoperative course was uneventful. At present our patient remains under long term annual follow-up.     

Germinoma of the pineal body with syncytiotrophoblastic giant cells

Almost all types of germ cell tumors are known to occur in the third ventricle-pineal region. In this paper we report the case of a 16-year-old boy having a particular subtype of germinoma of the pineal body in which scattered syncytiotrophoblastic cells positive for human chorionic gonadotropin were found. This tumor is considered the central nervous system counterpart of seminoma with syncytiotrophoblastic giant cells and dysgerminoma with syncytiotrophoblastic giant cells.     

Giant hypothalamic hamartoma: An unusual neonatal tumor

A case of neonatal manifestation of giant hypothalamic hamartoma is reported. It is suggested that hypothalamic hamartoma should be included in the list of neonatal intracerebral tumors. Magnetic resonance imaging appearance similar to that of normal gray matter on T1-weighted images and slightly hyperintense on T2-weighted images, without enhancement after gadolinium injection, is suggestive of the diagnosis.Hypothalamic hamartomas are congenital malformations, consisting of disorganized mature neuronal elements in proportions similar to that of normal tissue [1]. They are clinically evidenced in infants ranging from 1 to 7 years of age [1–5]. This report describes a histologically proved giant hypothalamic hamartoma diagnosed in the neonatal period. Magnetic resonance imaging (MRI) is helpful to distinguish this congenital non-evolution malformation from more aggressive neonatal tumors.     

Hemorrhagic subependymal giant cell astrocytoma

We describe the CT and MR findings in a patient diagnosed with tuberous sclerosis after presenting with a hemorrhagic subependymal giant cell astrocytoma (SEGCA). While these tumors are not uncommon in tuberous sclerosis, hemorrhage into them is extremely rare.     

Hepatoduodenal ligament teratoma with immature elements

Pediatric germ cell tumors comprise 1–3% of all malignant pediatric tumors and are found in variable locations. We present the case of a term 3.7 kg neonate who was found to have a giant liver mass at birth, later determined to be an immature teratoma arising from the hepatoduodenal ligament. This case report and images add to the limited literature a very rare presentation of a teratoma.     

巨细胞纤维母细胞瘤的临床病理学分析

目的总结巨细胞纤维母细胞瘤(giant cell fibroblastoma,GCF)的临床病理学特征及生物学行为,探讨其诊断和鉴别诊断方法。方法回顾性分析5例GCF的临床表现及病理学形态,采用免疫组织化学Envision法检测其免疫学表型。结果5例患儿均为男性,临床表现为躯干及下颌部皮下缓慢生长的无痛性结节。肿块平均约2～3.5cm大小,镜下病变主要位于真皮层内并向深部皮下脂肪组织内浸润性生长,主要由成束的梭形细胞组成,特征性形态表现为不规则分布的裂隙样或扩张的脉管样腔隙结构,其内可见散在的深染多核巨细胞;免疫组化标记显示梭形细胞和多核巨细胞CD34(+)、p75(+)和ApoD(+),S-100蛋白(-)、FXIIIa(-)和a-SMA(-)。结论GCF好发于婴幼儿,为中间性软组织肿瘤,宜采取局部广泛切除术,病理学特征和免疫组织化学标记是诊断和鉴别诊断的依据。     

Infantile Liver Giant Cells: Immunohistological Study of Their Proliferative State and Possible Mechanisms of Formation

The mechanism of liver giant cell formation is not clarified. Some authors consider the giant cells regenerative, others, degenerative. Paraffin sections of 10 archival cases of idiopathic neonatal hepatitis (INH), 8 of extrahepatic biliary atresia (EHBA), and 5 normal liver samples were immunostained with two well-characterized cell proliferation markers: anti-PCNA monoclonal antibody (MAb) (clone PC-10) and MAb MIB-1, which detects Ki-67, a nuclear proliferation-related antigen. In addition, polyclonal antibody to carcinoembryonic antigen (CEA) was used to identify remnants of canalicular, therefore hepatocytic, membranes in giant cells. Quantitative analysis of immunostaining was done by estimating PCNA and Ki-67 indices separately in giant cells and in nongiant hepatocytes. In normal samples, mean PCNA and Ki-67 indices were 1.22% and 0.74%, respectively. In the cases of INH and EHBA, only a small minority of giant cells showed PCNA or Ki-67 staining limited to occasional peripherally located nuclei. PCNA and Ki-67 indices were significantly higher in the non–giant cell compartment. CEA staining was seen only in rare giant cells as centrally located canalicular remnants bordered by polarized nuclei, suggesting that they had been formed from rosettes through dissolution of cell membranes. Other giant cells shared CEA-labeled canalicular membranes with mononuclear hepatocytes in rosettes. These findings indicate that the giant cells in INH and EHBA are not regenerative cells, they are not formed by amitotic division of nuclei in syncytia, and that fusion of rosette-forming hepatocytes is a possible mechanism of their formation. Received May 6, 1998; accepted July 23, 1998.     

GIANT CELL TUMOR OF TENDON SHEATH ARISING IN THE TOE

Giant cell tumor of the tendon sheath (nodular synovitis) is a benign soft tissue tumor, usually affecting older women, that most often occurs in the interphalangeal joints of the fingers. Occurrence is rare in children. We present a 12-year-old boy and a 6-year-old girl with giant cell tumors of tendon sheaths occurring in the toes. The tumor from the 12-year-old demonstrated the cytogenetic finding of t(1;2)(p13;q37), which previously has been associated with giant cell tumor of tendon sheath in adults. Giant cell tumors of the tendon sheath occurring in children have similar histological and cytogenetic features as adults, however, there may be a predilection for lower extremity involvement.     

Giant cell tumor of tendon sheath arising in the toe

Giant cell tumor of the tendon sheath (nodular synovitis) is a benign soft tissue tumor, usually affecting older women, that most often occurs in the interphalangeal joints of the fingers. Occurrence is rare in children. We present a 12-year-old boy and a 6-year-old girl with giant cell tumors of tendon sheaths occurring in the toes. The tumor from the 12-year-old demonstrated the cytogenetic finding of t(1;2)(p13;q37), which previously has been associated with giant cell tumor of tendon sheath in adults. Giant cell tumors of the tendon sheath occurring in children have similar histological and cytogenetic features as adults, however, there may be a predilection for lower extremity involvement.     

Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations of either of the two tumor suppressor genes, TSC1 and TSC2, encoding hamartin and tuberin, respectively. TSC is pathologically characterized by the occurrence of multiple hamartias (focal dysplasias) and hamartomas (benign tumors) in the brain and many other organs. Cortical tubers are hamartias in the cerebral cortex responsible for many neuropsychiatric symptoms of TSC. Unlike TSC-associated hamartomas, cortical tubers do not result from second somatic mutations of the TSC gene, and the mechanism by which they occur remains obscure. Histologically, the most conspicuous feature of cortical tubers is the presence of abnormal giant cells, which show abnormal size and differentiation. Recent studies on human TSC and its animal models have elucidated the critical roles of hamartin and tuberin regulating the growth and differentiation of neural cells.     

CT三维重建及肝脏体积测定在小儿肝脏肿瘤手术中的应用

目的探讨螺旋CT三维成像及肝脏体积测定在小儿巨大肝脏肿瘤和位于肝门部位肝脏肿瘤手术治疗中的价值。方法2002年1月至2009年1月本院诊治巨大和位于肝门部位的小儿肝脏肿瘤25例,均使用螺旋CT增强扫描,并在CT工作站行肝动脉、门静脉及肝静脉的三维影像重建,测量全肝体积,预测切除肝脏体积,并计算残余肝脏体积及残余肝脏体积与标准化肝脏体积之比。结果25例经CT三维重建后均获得清晰的肿瘤瘤体及与血管毗邻关系的图像。其中手术患儿21例,未手术患儿4例。21例手术患儿中,行右半肝切除6例,左半肝切除5例,右三叶切除5例,左二三叶切除1例,肝中叶切除4例,手术患儿术后平均残余肝脏体积为182．55cm^3,最小残余肝脏体积为62．26m^3,平均残余肝脏体积与标准化肝脏体积之比（平均残余肝脏体积比）为44．69％,最小残余肝脏体积比为20．16％,所有患儿同手术期均未发生严重肝功能衰竭。结论通过CT三维重建的画面,可以旋转地动态观察肝脏血管的走行、位置及与肿瘤的关系,并可计算出术后残余肝脏体积及残余肝脏体积与标准化肝脏体积之比,为判断手术的可行性、手术方案的选择与制定及评估术后残余肝脏功能提供了很大的帮助。     

Pleomorphic xanthoastrocytoma: a report of two cases

We report two cases of a recently isolated variety of astrocytoma, pleomorphic xanthoastrocytoma, affecting the cerebral cortex and meninges of children and young adults. The first tumor was localized in the left frontal lobe of a 9-year-old girl. The second appeared in the right parietal lobe of a 14-year-old girl. Both tumors displayed a pleomorphic cellular proliferation, with spindle-shaped and bizarre multinucleated giant cells, some positive for neutral lipids, with a prominent reticulin network and areas highly suggestive of malignant fibrohistiocytomas (fibroxanthosarcomas). The glial fibrillary acidic protein was demonstrated by the immunoperoxidase method in the cytoplasm of the giant and the spindle cells. Ultrastructural studies confirmed the glial nature of the tumor. This type of tumor seems to carry a much better prognosis than other tumors from which it has to be separated, e.g., glioblastoma and meningeal sarcomas.     

Ovarian mucinous borderline cystoadenoma, in a premenarchal girl

Ovarian epithelial tumors (cystoadenomas/cystoadenocar-cinomas) are not as common in girls as the germinal tumors (teratomas). Mucinous or serous borderline cystoadenomas (CAdB) with a low malignant potencial, represent 20% of epithelial tumors. As an intermediate type of benign-malignant neoplasia, these tumors are usually giant cystic pelvic masses found in young females, but exceedingly rare before menarche. Stage 1 (tumor limited to the ovary) is the most frequent stage at diagnosis. Bilateral ovarian compromise occurs in 10-15% of patients. Open surgery is preferred to perform a fertility sparing procedure such as oophorectomy, salpingo-oophorectomy or even a tumorectomy in selected cases. The latter requires intraoperative biopsy confirmation of free margins, to prevent recurrence. Prolonged follow up is indicated to detect a recurrence or a contralateral tumor development. Survival is excellent in most of these patients. We present the case of a premenarchal girl with a huge mucinous CAdB.     

Pleomorphic Xanthoastrocytoma: A Report of Two Cases

We report two cases of a recently isolated variety of astrocytoma, pleomorphic xanthoastrocytoma, affecting the cerebral cortex and meninges of children and young adults.

The first tumor was localized in the left frontal lobe of a 9-year-old girl. The second appeared in the right parietal lobe of a 14-year-old girl.

Both tumors displayed a pleomorphic cellular proliferation, with spindle-shaped and bizarre multinucleated giant cells, some positive for neutral lipids, with a prominent reticulin network and areas highly suggestive of malignant fibrohistio-cytomas (fibroxanthosarcomas).

The glial fibrillary acidic protein was demonstrated by the immunoperoxidase method in the cytoplasm of the giant and the spindle cells. Ultrastructural studies confirmed the glial nature of the tumor.

This type of tumor seems to carry a much better prognosis than other tumors from which it has to be separated, e.g., glioblastoma and meningeal sarcomas.     

Giant granules and rod-shaped inclusions arising de novo in monocytes and macrophages cultured from a patient with acute monocytic leukemia

In this paper we describe the de novo appearance of azurophilic giant granules and rod-shaped inclusions in monocytes and macrophages grown from the peripheral blood and bone marrow of a patient with acute monocytic leukemia; no such inclusions were evident in direct smears of the patient's peripheral blood or bone marrow. The cytochemical profile of the inclusions, their origin in mononuclear phagocytes only, and their development exclusively in vitro suggest that they are distinct from Auer rods, Chediak-Higashi-like giant granules, and other abnormal azurophilic inclusions previously described in patients with acute non-lymphocytic leukemia.     

Stereotactic endoscopic resection and surgical management of a subependymal giant cell astrocytoma: case report

Subependymal giant cell astrocytomas (SEGAs) are benign tumors, most commonly associated with tuberous sclerosis complex (TSC). Arising from the lateral ependymal surface, these tumors may obstruct one or both foramina of Monro, resulting in hydrocephalus and often requiring treatment. Although interhemispheric-transcallosal and transcortical-transventricular approaches have been the standard methods for resecting these tumors, advances in neuroendoscopic techniques have expanded SEGAs as a potential target for endoscopic resection. The authors present a case of an endoscopically resected SEGA with stereotactic guidance in a 4-year-old girl with TSC. A gross-total resection of an enlarging SEGA was achieved. This represents one of the early case reports of endoscopically resected SEGAs. Although recent advances in medical treatment for SEGAs with mammalian target of rapamycin (mTOR) pathway inhibitors have shown promising initial results, the long-term safety and efficacy of mTOR inhibitors has yet to be determined. The propensity of these tumors to cause obstructive hydrocephalus requires that a surgical option remain. Neuroendoscopic approaches may allow a safe and effective technique.     

Mandibular and para-mandibular tumors in children

Sixteen cases of mandibular tumors or paramandibular soft tissue tumors with mandibular involvement are reported. These include such rare mandibular tumors or tumor-like conditions as melanotic progonoma, intraosseous haematoma secondary to von Willebrand's disease, post-irradiation osteosarcoma, monostotic eosinophilic granuloma, aneurysmal bone cyst and osseous hemangiopericytoma. Three cases of cherubism, one of fibrous dysplasia or aggressive fibromatosis and one of central giant cell reparative granuloma are also reported. The soft tissue tumors comprise round cell sarcoma, parotid adeno-carcinoma with generalised metastases, embryonal rhabdo-myo-sarcoma, neuro-fibro-sarcoma and congenital cystic hygroma. In all the cases the disease was well advanced when the patient presented for X-ray examination. The specific X-ray diagnosis of mandibular and paramandibular tumors in childhood is more difficult than that of similar tumors in other parts of the body.Presented at the 24-th Annual Meeting of the American Society for Paediatric Radiology, San Francisco, California, USA, March 22–27, 1981; Presented at the 18-th Annual Meeting of the European Society of Paediatric Radiology, Oslo, Norway, May 20–22, 1981 and at the 32-nd Annual General Meeting of the Royal Australasian College of Radiologists, Christchurch, New Zealand, September 20–25, 1981     

Intraarterial management of giant-cell tumors of the spine in children

Transcatheter arterial management of giant cell tumors of the spine was performed in two female patients aged 12 and 15 who had failed to respond to conventional therapy. Response was determined clinically by alleviation of pain and radiographically by regression and/or calcification of the tumor. Minor side effects included transient nausea, elevated body temperature, and pain.     

Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors

Tuberous sclerosis complex (TSC) is associated with hamartomatous growths including subependymal giant cell astrocytomas (SEGAs). Since chemo‐radiation therapies offer scant benefit, oncologists had traditionally been little involved in managing SEGAs. Recent evidence demonstrating rapamycin efficacy in adults and children with TSC‐associated tumors foresee a practice change. We summarize our institutional experience and literature review that highlight potential benefits and hazards of rapamycin therapy, for TSC patients with SEGA, and other syndromal brain tumors. Pediatr Blood Cancer 2010;54:476–479. © 2009 Wiley‐Liss, Inc.