双上颌结节区幼年性玻璃样变纤维瘤病1例及文献复习

目的探讨幼年性玻璃样变纤维瘤病临床病理特点、放射学表现及鉴别诊断。方法对1例幼年性玻璃样变纤维瘤病患者进行病理学、免疫组织化学、放射学检查和分析。结果该幼年性玻璃样变纤维瘤病患者具有较明确的临床病理学特征,细胞成分vimentin强阳性,淀粉酶消化后PAS强阳性;该患者尚具有＂类恒磨牙、成熟游离骨和颧骨颧弓发育不全＂等特殊放射学特征。结论幼年性玻璃样变纤维瘤病是一种罕见非肿瘤性的常染色体隐性遗传性疾病,好发于婴幼儿,常以头颈部皮下、牙龈、关节和骨骼内积聚大量的细胞外玻璃样物质为特点,形成多发性肿瘤样结节或肿块,可依靠病理及免疫组织化学检查确诊。     

TGF-β isoforms and TGF-β receptors in drug-induced and hereditary gingival overgrowth

Drug therapy and hereditary factors are two of the main causes of gingival overgrowth (GO). Both of these forms of GO are associated with increased extracellular matrix production by fibroblasts. Transforming growth factor beta (TGF-beta) is an important mediator of wound healing and tissue regeneration, which stimulates fibroblasts to produce extracellular matrix materials. The aim of this immunohistochemical study was to determine whether there is any altered expression of TGF-beta isoforms or its receptors in tissue from patients with drug-induced GO (DIGO; n=10) and hereditary gingival fibromatosis (n=10) when compared to non-overgrowth tissue (n=10). Compared to control tissues, significantly more fibroblasts expressed TGF-beta1 in both DIGO and hereditary gingival fibromatosis tissues (P<0.03). Cells expressing TGF-beta2 were present at control levels in DIGO but were significantly reduced in hereditary gingival fibromatosis (P<0.02). By contrast, the number of TGF-beta3-positive cells was the same in overgrowth tissues and controls. However, because of differences in total fibroblast densities between groups, there was a proportional increase in TGF-beta3 as well as TGF-beta1 expressing cells within both overgrowth populations (P<0.0001). Furthermore, representation of the TGF-beta2-positive phenotype was reduced in hereditary gingival fibromatosis (P<0.01) but increased in DIGO (P<0.005) compared to controls. Absorbance measurements of the positive cell populations showed that the level of expression was significantly higher for TGF-beta1 in hereditary gingival fibromatosis (P<0.002) and significantly lower for TGF-beta3 in DIGO (P<0.03). No significant differences in the numbers of TGF-betaRI- or RII-positive cells were detected between overgrowth tissues and controls. However, there were increases in the proportion of receptor-positive cells in the total cell population analysed in overgrowth tissues (P<0.0001). These results indicate qualitative and quantitative differences in TGF-beta isoform and receptor expression by fibroblasts in gingival overgrowth that may contribute to disease pathogenesis.     

Mesenteric desmoid fibromatosis with necrosis resembling sarcoma

Intra-abdominal desmoid fibromatosis is a benign but locally aggressive myofibroblastic neoplasm with no capacity to metastasize. Typical examples show an unremarkable homogeneous gross appearance with infiltrative borders and bland histology that pose little difficulty to the pathologist. Characteristically, fibromatoses lack worrisome features such as necrosis, hemorrhage and cavitation, which are usually seen in potentially higher grade tumors particularly gastrointestinal stromal tumor and other soft tissue sarcomas. Differentiating between these lesions is particularly important for prognostic and therapeutic implications. Herein a case of mesenteric desmoid fibromatosis in a 54-year-old woman is described, which demonstrated a pseudosarcomatous appearance both on radiology and gross examination because of the presence of central cavitation and necrosis.     

Syndrome‐associated soft tissue tumours

Soft tissue neoplasms may be associated with a variety of genetic disorders and malformation syndromes, especially when they arise in children, adolescents and early adulthood. This review summarizes the principal histopathological types of soft tissue tumours which occur in various syndromes, with an emphasis on pathological features, genetic aspects and considerations for the diagnostic pathologist.     

Aggressive fibromatosis of the leg and sacrococcygeal region: a report of two cases

Aggressive fibromatosis is a rare soft tissue tumor that composes of myofibroblasts that arise from musculoaponeurotic structures. It usually affects the abdominal wall but may be also found in other less common sites including the head and neck, submucosa of the oral cavity, spinal, haunch and limbs, especially, the limbs and sacrococcygeal region are rare locations. We described two cases of aggressive fibromatosis. One was 3-year-old girl with aggressive fibromatosis arising from the right leg region. The other was 20-year-old female arising from in the sacrococcygeal region. They were resected with satisfied results. Pathological examination showed that they were composed of fibroblasts, fibrocytes and bundles of collagen fiber. The aggressive fibromatosis, although rare, should be differentiated from some other soft tissue tumors with similar histological features and different localizations of intra-abdominal, abdominal wall and extra-abdominal.     

Pain in desmoid-type fibromatosis: Prevalence,determinants and prognosis value

The aim of this study is to evaluate the prevalence, determinants and prognostic value of pain at diagnosis in patients with desmoid-type fibromatosis (DF). We selected patients from the ALTITUDES cohort (NCT02867033), managed by surgery, active surveillance or systemic treatments, with pain assessment at diagnosis. Patients were invited to fill QLQ-C30 questionnaire and Hospital Anxiety Depression Scale. Determinants were identified using logistic models. Prognostic value on event-free survival (EFS) was evaluated using the Cox model. Overall, 382 patients were included in the current study (median age: 40.2 years; 117 men). The prevalence of pain was 36%, without significant difference according to first-line treatment (P = .18). In the multivariate analysis, pain was significantly associated with tumor size >50 mm (P = .013) and tumor site (P < .001); pain was more frequent in the neck and shoulder locations (odds ratio: 3.05 [1.27-7.29]). Pain at baseline was significantly associated with poor quality of life (P < .001), depression (P = .02), lower performance status (P = .03) and functional impairment (P = .001); we also observed a nonsignificant association with anxiety (P = .10). In the univariate analysis, baseline pain was associated with poor EFS; the 3-year EFS was 54% in patients with pain compared to 72% in those without pain. After adjustment for sex, age, size and line of treatment, pain was still associated with poor EFS (hazard ratio: 1.82 [1.23-2.68], P = .003). One third of recently diagnosed patients with DF experienced pain, especially those with larger tumors and neck/shoulder locations. Pain was associated with unfavorable EFS after adjustment for the confounders.     

Correlation between tumor growth and hormonal therapy with MR signal characteristics of desmoid-type fibromatosis: A preliminary study

Purpose

To evaluate the impact of hormonal therapy on MRI characteristics of desmoid-type fibromatosis on T1-weighted, T2-weighted fat-saturated and post-contrast sequences.

Induratio penis plastica: effectivity of low-dose radiotherapy at different clinical stages

This study describes the treatment of Peyronie's disease by means of low-dose radiotherapy. We treated 265 men aged 24.5–79.4 years (median = 57.7 years). No previous therapy had been carried out in 214 patients, and 41 patients had been pretreated (systemic: potassium p-aminobenzoate, vitamins a, b, e; topical: corticosteroids, teleradiotherapy). The disease was classified using criteria proposed by Alth in 1984 location, number and size of foci, hardness of fibromatous foci and axis deviation, potentia coeundi and pain were evaluated. Radiotherapy was performed by local application of a special iridium-192 moulage developed at our institute. In 66.4% of the monitored patient group (n=155) therapy was successful. We obtained complete regression of the fibromatous foci in 9% (n=14), partial remission >50% in 29.7% (n=46) and partial remission <50% in 27.7% (n=43) of the patients. We found a significant correlation between hardness, size of the treated foci and therapeutic success. Eighty-three patients suffered from pain during penile erection before therapy, and in 61.4% (n=51) of these patients the pain disappeared after treatment. Moreover, the patients confirmed that both loss of pain and regression of deviation related to foci regressions were correlated with improvement in erectile function. No serious side effects were observed in any of our patients.     

高强度聚焦超声治疗侵袭性纤维瘤研究进展

侵袭性纤维瘤(AF)是一种交界性肿瘤,具有较强局部侵袭性和复发性而少见远处转移。近年来,影像学引导下高强度聚焦超声(HIFU)逐渐用于治疗AF,具有精准、无创、可重复等优点。本文对HIFU治疗AF研究进展进行综述。