Congenital solitary intestinal fibromatosis.

Neonatal intestinal obstruction due to a tumour is rare. We report a six-day-old male neonate who presented with abdominal distension and vomiting. Laparotomy revealed colonic obstruction caused by a stenosing fibrotic lesion in the proximal transverse colon. Histopathological examination of the resected specimen confirmed fibromatosis. We believe this represents the third reported case of solitary colonic fibromatosis. The literature on neonatal intestinal fibromatosis is reviewed.     

A case of head and neck kaposiform hemangioendothelioma simulating a malignancy on imaging

Kaposiform hemangioendothelioma (KH) is an endothelial-derived spindle cell neoplasm often associated with Kasabach-Merritt syndrome. Most cases arise in infancy and childhood and are soft-tissue tumors. The tumor displays an appearance between capillary hemangioma and Kaposi's sarcoma. We report a case of KH in a 1-year-old girl involving a mass that showed abnormal enhancement of soft tissue superficial to the right temporal bone with partial destruction of the temporal bone, the temporomandibular joint, mandibular condyle, and occipital bone. The physical finding of a discolored mass led clinicians to consider a hemangiomatous lesion, whereas the radiological picture suggested a more aggressive diagnosis of rhabdomyosarcoma and aggressive fibromatosis. Received: 8 March 2001/Accepted: 6 August 2001     

H3.1 K36M mutation in a congenital‐onset soft tissue neoplasm

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole‐exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants.     

Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome

Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.     

Congenital neurofibromatosis. Multiple subcutaneous tumors with spontaneous regression in twins

Multiple subcutaneous tumors were found at birth in a pair of identical twins, and the histological diagnosis was neurofibroma. The tumors disappeared within seven months. This disorder must be differentiated from congenital generalized fibromatosis, which usually shows a malignant course.     

CONGENITAL NEUROFIBROMATOSIS

ABSTRACT. Multiple subcutaneous tumors were found at birth in a pair of identical twins, and the histological diagnosis was neuroflbroma. The tumors disappeared within seven months. This disorder must be differentiated from congenital generalized fibromatosis, which usually shows a malignant course.     

A sporadic abdominal desmoid tumour case presenting with intermittent intestinal obstruction.

Desmoid tumours, also known as aggressive fibromatosis, are rare lesions with an intermediate biological behaviour between benign fibrous lesions and fibrosarcomas. Although abdominal desmoids have an increased incidence in Gardner's syndrome, they are rarely found in an isolated form. We report the findings of a barium study, ultrasound, computed tomography and magnetic resonance imaging in a nine-year-old boy with intermittent nausea and vomiting, diagnosed as having a desmoid tumour. Although intra-abdominal desmoids are usually detected as a solitary lesion in sporadic cases, the presented case had two mesenteric lesions in the left upper quadrant. There was intestinal obstruction and the masses had invaded the colon wall.     

Tératome sacrococcygien bénin chez l’enfant : revue de littérature à propos d’un cas

Sacrococcygeal teratomas are rare congenital tumors, generally discovered at birth. These tumors are seldom observed in children. Radical resection must be performed to avoid potentially malignant recurrence even if the primary lesion is benign. We report a case in an 8-year-old girl who did not have a past medical history. Since the age of 2 years, she presented a progressive sacral tumefaction with no neurological deficit. The MRI showed a large sacrococcygeal cyst in hypointense-signal T1-weighted imaging with no contrast enhancement, and a hyperintense signal in T2-weighted imaging. At surgery, the tumor was totally removed. The intraoperative aspect was that of a viscous cyst. The histological study showed a sacrococcygeal teratoma.     

Congenital generalised fibromatosis

A case of congenital generalised fibromatosis is described. The need to avoid unnecessary treatments is stressed.     

Outcome of congenital lung abnormalities detected antenatally

To determine the outcome of congenital lung abnormalities, data were collected retrospectively between January 1991 and December 1996 on any foetus found to have a lung lesion on antenatal ultrasound. A total of 23 foetuses had lung lesions on antenatal ultrasound. In two foetuses the antenatal ultrasound showed bilateral enlarged "bright" echogenic lungs with evidence of hydrops. Both pregnancies were terminated and tracheal atresia was confirmed. In 15 foetuses the antenatal ultrasound appearance was of a unilateral "bright" echogenic lung. There was one case of bronchial atresia and two cases of congenital lobar emphysema, which all had surgery. In nine cases there was a reduction in the size of the lesion on serial antenatal ultrasounds and no lesion was detected after birth. In three cases a small lesion was present after birth on chest radiography. In six foetuses the antenatal ultrasound appearance was of unilateral cystic or mixed cystic and echogenic lung lesions. Two pregnancies were terminated; both had congenital cystic adenomatoid malformation. Four pregnancies were continued and three infants had surgery soon after birth and were confirmed to have had congenital cystic adenomatoid malformation. One infant has been managed conservatively. In conclusion, a definitive diagnosis cannot usually be made antenatally. A large lesion on initial scan does not necessarily predict a poor outcome. The natural history of small asymptomatic postnatal lesions is unknown and a long-term prospective study is needed to determine the outcome of these lesions.     

Aggressive CD34-positive Fibrous Scalp Lesion of Childhood: Extrapulmonary Solitary Fibrous Tumor

Although solitary fibrous tumor (SFT) was originally described as a pleural tumor, an increasing number of extrapleural sites of SFTs have been documented. This has been attributed not only to the heightened awareness of the spectrum of histopathological features that characterizes SFTs but also to the recognition of the role of CD34 immunostaining in soft tissue tumors in general, and in SFTs in particular. Despite the large number of documented extrapleural SFTs in adults, cranial SFTs are rare, having been documented in the meninges, scalp, and infratemporal fossa. Extrapleural SFTs are, to date, an unrecognized entity in children. We document an aggressive fibrous scalp lesion in a 30-month-old female child that demonstrated features common to benign cranial fasciitis and SFT. However, based on bright, diffuse CD34 antigen immunopositivity, a diagnosis of SFT was made. The need to include the CD34 antigen stain in a panel of immunohistochemical markers used to assess spindle cell lesions of childhood is emphasized. Received March 29, 1999; accepted February 28, 2000.     

儿童侵袭性纤维瘤的临床特征及预后分析（附27例报告）

目的　分析儿童侵袭性纤维瘤的临床特征及预后情况,以提高临床认识及诊疗水平。方法　回顾性分析2007年1月至2018年1月首都医科大学附属北京儿童医院收治的27例原发性侵袭性纤维瘤患儿临床资料,并进行随访。结果　27例患儿中,男16例、女11例,中位发病年龄65（35,96）个月,原发肿瘤部位分型中,腹壁型3例、腹内型5例、腹外型19例。术前影像学检查提示原发肿瘤最大径中位数为9.8（5.3,12.1） cm。所有患儿初诊时均接受手术治疗,10例接受化疗（甲氨喋呤+长春碱类）。27例患儿中,无病生存9例,带瘤生存15例,死亡3例。5年总体存活率85.8%,5年无事件存活率32.6%。生存分析结果显示,手术切缘阳性与肿瘤复发相关。结论　儿童侵袭性纤维瘤是一种罕见的中间性肿瘤,手术切除效果不佳者极易复发,化疗对控制肿瘤的增长有一定作用。多数患儿预后良好,但部分患儿可因肿瘤持续增长而致残甚至死亡。     

Successful liver transplantation for non‐resectable desmoplastic nested spindle cell tumor complicated by Cushing's syndrome

Desmoplastic spindle cell tumors of liver are rare tumors of low malignant potential characterized by well‐demarcated nests of spindle and epithelioid cells in a dense desmoplastic stroma. While surgery remains the definitive treatment, there have been reports of tumor recurrence locally and metastasis which respond poorly to chemotherapy. Hepatic transplant has been attempted in cases of recurrence or large size of primary tumor. Long‐term follow‐up and imaging surveillance are required as these tumors have shown a tendency for recurrence many years after initial therapy.     

Whose side are you on? The diagnostic conundrum of solitary crossed renal ectopia

A 56-year-old man presents with haematuria and through extensive investigation is found to have solitary crossed renal ectopia. This congenital abnormality occurs as a result of a combination of unilateral renal agenesis and renal ectopia. With only 34 cases reported in the worldwide literature, the rarity of solitary crossed renal ectopia makes its diagnosis a challenge.We review the embryological theories behind this congenital anomaly and highlight some of the typical features demonstrated in our case that would lead one to consider a diagnosis of solitary crossed renal ectopia. We also describe features which have not previously been noted in case reports.     

Congenital fibromatosis of the ileum

Congenital fibrous hamartoma is one of the rare congenital lesions occuring in the abdomen. We report a case of congenital fibromatosis of the small intestine in a boy who presented with a huge intra-abdominal mass. Problems associated with diagnosis are discussed with a review of the literature.     

Infantile Fibrosarcoma—a Misnomer?

Two cases of congenital or infantile fibrosarcoma are described that were incompletely excised at the time of primary excision and have not recurred or metastasized after 3 years. The tumors were composed of densely cellular spindle cells with a high mitotic index. Immunohistochemical stains were positive for vimentin but negative for desmin and S-100. The tumor cells were grown in vitro, and a karyotype was obtained. Both tumors had normal diploid modal karyotypes. In addition, fragments of the primary tumor from both cases were injected subcutaneously into nude mice; neither tumor could be heterotrans-planted. The clinical course and biologic features of these two tumors suggest that congenital or infantile sarcoma does not have the properties of a malignant neoplasm, and thus the designation of these tumors as a sarcoma may be a misnomer.     

Infantile fibrosarcoma--a misnomer?

Two cases of congenital or infantile fibrosarcoma are described that were incompletely excised at the time of primary excision and have not recurred or metastasized after 3 years. The tumors were composed of densely cellular spindle cells with a high mitotic index. Immunohistochemical stains were positive for vimentin but negative for desmin and S-100. The tumor cells were grown in vitro, and a karyotype was obtained. Both tumors had normal diploid modal karyotypes. In addition, fragments of the primary tumor from both cases were injected subcutaneously into nude mice; neither tumor could be heterotransplanted. The clinical course and biologic features of these two tumors suggest that congenital or infantile sarcoma does not have the properties of a malignant neoplasm, and thus the designation of these tumors as a sarcoma may be a misnomer.     

Diffuse fibromatosis on the scalp in infancy: A variant of juvenile hyaline fibromatosis

Various types of fibromatosis have been reported in infancy and early childhood. We describe an infant with diffuse fibromatosis on the scalp. A one year and five months-old girl showed a diffuse and hard mass 3 × 5 cm in diameter and no tenderness on the scalp. Two months later, the size of the mass had increased and several other tumors appeared on the lateral head. The magnetic resonance imaging (MRI) disclosed that a large and diffuse tumor had spread from the frontal to occipital head; a ‘helmet-like’ configuration of the tumor was exhibited on sagittal MR images. The tumor showed high signal intensity on T2-weighted images and was enhanced with Gd-DTPA. Histological examination showed a fibroblastic proliferation with intervening thick collagen bundles. The patient was diagnosed as having diffuse fibromatosis. The tumor at the resection site immediately recurred, whereas the tumor in the frontal head showed marked regression. Three months after the resection, new tumors appeared in the occipital head. The size and number of these tumors have remained unchanged for more than 18 months. The sites and appearance of the tumors were identical to that of juvenile hyaline fibromatosis (JHF) in this patient. However, JHF usually includes fibroblasts associated with large amounts of hyalinized collagen-like material, which were not present in our patient. The different histology of JHF comparing our case and other reported cases may depend on the different phase of the disease progression at resection. Long-term observation is necessary for the appropriate diagnosis and evaluation of prognosis in this patient.     

Hepatic spindle cell tumors in HIV positive children

Spindle cell tumors (leiomyoma, leiomyosarcoma) have been described in HIV infected children involving the gastrointestinal tract, respiratory tract and liver. The same tumor has been reported in immuno-compromised children following liver and renal transplantation. A case of hepatic spindle cell tumor in an HIV infected child is discussed.     

A Case of Multiple Infantile Fibromatosis of Unclassified Type

We report an unusual case of fibromatous disease in infancy, diagnosed as a multiple infantile fibromatosis of unclassified type. Histologically, the tumors are composed of a mixture of fibrous component and mature adipose tissue. The clinical manifestations resemble those of infantile myofibromatosis. The symptoms, including size and number of tumors, have not been progressive for one year.