Cystic masses of the mediastinum are well-marginated round lesions that contain fluid and are lined with epithelium. Major cystic masses include congenital benign cysts (ie, bronchogenic, esophageal duplication, neurenteric, pericardial, and thymic cysts), meningocele, mature cystic teratoma, and lymphangioma. Many tumors (eg, thymomas, Hodgkin disease, germ cell tumors, mediastinal carcinomas, metastases to lymph nodes, nerve root tumors) can undergo cystic degeneration-especially after radiation therapy or chemotherapy-and demonstrate mixed solid and cystic elements at computed tomography (CT) or magnetic resonance (MR) imaging. If degeneration is extensive, such tumors may be virtually indistinguishable from congenital cysts. A mediastinal abscess or pancreatic pseudocyst also appears as a fluid-containing mediastinal cystic mass. However, clinical history and manifestations, anatomic position, and certain details seen at CT or MR imaging allow correct diagnosis in many cases. Familiarity with the radiologic features of mediastinal cystic masses facilitates accurate diagnosis, differentiation from other cystlike lesions, and, thus, optimal patient treatment.

Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum with cysts and brainstem hypoplasia. Cortical dysplasia results from neuroglial overmigration into the arachnoid space, forming an extracortical layer, responsible for agyria and/or 'cobblestone' brain surface and ventricular enlargement. The underlying mechanism is a disruption of the glia limitans, the outermost layer of the brain. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal recessive diseases with cerebral, ocular and muscular deficits, Walker-Warburg syndrome, muscle-eye-brain and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN and FKRP genes attributed these diseases to α-dystroglycanopathies. However, studies have not been able to identify causal mutations in the majority of patients and to establish a clear phenotype/genotype correlation. Therefore, we decided to perform a detailed neuropathological survey and molecular screenings in 65 foetal cases selected on the basis of histopathological criteria. After sequencing the six genes of α-dystroglycanopathies, a causal mutation was observed in 66% of cases. On the basis of a ratio of severity, three subtypes clearly emerged. The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). The least severe, cobblestone lissencephaly C, was linked to POMGNT1 mutations (18%). An intermediary type, cobblestone lissencephaly B, was linked to LARGE mutations (4.5%) identified for the first time in foetuses. We conclude that cobblestone lissencephaly encompasses three distinct subtypes of cortical malformations with different degrees of neuroglial ectopia into the arachnoid space and cortical plate disorganization regardless of gestational age. In the cerebellum, histopathological changes support the novel hypothesis that abnormal lamination arises from a deficiency in granule cells. Our studies demonstrate the positive impact of histoneuropathology on the identification of α-dystroglycanopathies found in 66% of cases, while with neuroimaging criteria and biological values, mutations are found in 32-50% of patients. Interestingly, our morphological classification was central in the orientation of genetic screening of POMT1, POMT2, POMGNT1, LARGE and FKRP. Despite intensive research, one-third of our cases remained unexplained; suggesting that other genes and/or pathways may be involved. This material offers a rich resource for studies on the affected neurodevelopmental processes of cobblestone lissencephaly and on the identification of other responsible gene(s)/pathway(s).

Bronchial carcinoid tumors are neuroendocrine neoplasms that range from low-grade typical carcinoids to more aggressive atypical carcinoids and therefore demonstrate a wide spectrum of clinical behaviors and histologic features. Typical and atypical bronchial carcinoids have similar imaging features. Because most bronchial carcinoids are located in central airways, radiologic findings are usually related to bronchial obstruction. Central bronchial carcinoids manifest as an endobronchial nodule or hilar or perihilar mass with a close anatomic relationship to the bronchus. The mass is usually a well-defined, round or ovoid lesion and may be slightly lobulated at radiography and computed tomography (CT). Associated atelectasis, air trapping, obstructing pneumonitis, and mucoid impaction may also be seen. Peripheral bronchial carcinoids appear as solitary nodules. Calcification is common and is easily visualized at CT. Bronchial carcinoids demonstrate high signal intensity on T2-weighted and short-inversion-time inversion recovery magnetic resonance images. Prognosis of bronchial carcinoids is highly dependent on histologic findings: Atypical carcinoids have certain features that suggest a more aggressive nature. Typical bronchial carcinoids generally have an excellent prognosis, whereas atypical bronchial carcinoids have a worse prognosis. Therefore, understanding the histologic, clinical, and radiologic features of bronchial carcinoids facilitates accurate diagnosis and helps optimize surgical planning.

Percutaneous interstitial laser photocoagulation of osteoid osteoma seems to be a promising, simple, precise, and minimally invasive alternative to traditional surgical and percutaneous ablations.

The first prenatal diagnosis of Pallister-Killian syndrome (PKS) was reported by Gilgenkrantz et al. in1985. Since this report, about 60 prenatal cases have been reported but both sonographic and cytogenetic diagnoses remain difficult. Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent. The mosaic distribution of the supernumerary isochromosome 12p greatly increases these difficulties. No prenatal cytogenetic technique is sensitive enough to ensure prenatal diagnosis and false-negative results have been described on fetal blood, chorionic villi and amniocentesis. We report here two prenatal cases of PKS which illustrate the great variability of the fetal phenotype. In reviewing the 63 reported cases, we attempt to determine ultrasound indicators of the syndrome and to define a cytogenetic strategy. In cases where ultrasound indicators are present, our proposal is first to perform chorionic villus or placental sampling and then amniocentesis when the first cytogenetic result is normal. Fetal blood sampling is the least indicated method because of the low frequency of the isochromosome in lymphocytes. In this cytogenetic strategy, fluorescent in situ hybridization (FISH) and especially interphase FISH on non-cultured cells increases the probability or identifying the isochromosome. A misdiagnosis remains possible when ultrasound is not contributory; the identification of new discriminating ultrasound indicators would be very helpful in this context.

We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.

Pathologic processes that may involve the chest wall include congenital and developmental anomalies, inflammatory and infectious diseases, and soft-tissue and bone tumors. Many of these processes have characteristic radiologic appearances that allow definitive diagnosis. Sternal deformities can be visualized at radiography and their severity quantified with computed tomography (CT). In cervical rib, CT with multiplanar reconstruction may demonstrate relevant anatomic detail and the relationship between bone deformity and arterial compression. In Poland syndrome, radiography reveals an area of hyperlucency on the affected side, whereas CT demonstrates the absence of the greater pectoral muscle and clearly depicts associated musculoskeletal anomalies. Tuberculosis typically manifests at radiography and CT as osseous and cartilaginous destruction and soft-tissue masses with calcification and rim enhancement. Aspergillosis involving the chest wall manifests as pulmonary consolidations and permeative osteolytic changes of the rib and spine at CT and as an area of increased signal intensity at T2-weighted magnetic resonance (MR) imaging. Neurogenic tumors and hemangiomas also typically have high signal intensity at T2-weighted MR imaging. Apparent mass extension or unequivocal bone destruction seen at CT or MR imaging may indicate chest wall involvement by lymphoma. Radiologically, soft-tissue sarcomas typically appear as areas of soft-tissue density or attenuation, often associated with necrotic areas of low density or attenuation. At radiography, plasmacytoma typically manifests as well-defined, "punched-out" lytic lesions with associated extrapleural soft-tissue masses. Chondrosarcoma frequently appears as a large, lobulated excrescent mass arising from a rib with scattered flocculent calcifications characteristic of its cartilaginous mix. Familiarity with these radiologic features facilitates accurate diagnosis and optimal patient treatment.

The majority of lung cancer patients have tumor-derived genetic alterations in circulating plasma DNA that could be exploited as a diagnostic tool. We used fluorescent microsatellite analysis to detect alterations in plasma and tumor DNA in 34 patients who underwent bronchoscopy for lung cancer, including 11 small cell lung cancer (SCLC) and 23 nonsmall cell lung cancer (NSCLC) (12 adenocarcinomas, 11 squamous cell carcinomas) and 20 controls. Allelotyping was performed with a selected panel of 12 microsatellites from 9 chromosomal regions 3p21, 3p24, 5q, 9p, 9q, 13q, 17p, 17q and 20q. Plasma DNA allelic imbalance (AI) was found in 88% (30 of 34 Key words: plasma DNA alterations; lung cancer; microsatellite analysis; histologic type; prognosisLung cancer is one of the most common tumors in the world. The World Health Organization's (WHO) pathologic description of malignant tumors classifies lung cancer into 4 main groups: 1 small cell lung cancer (SCLC), squamous cell carcinoma (SQC), adenocarcinoma (ADC) and large cell carcinoma (LCC). For prognostic and therapeutic purposes, SQC, ADC and LCC are pooled together in the nonsmall cell lung cancer (NSCLC) group. NSCLC and SCLC represent about 80% and 20% of all primary lung cancers, respectively. 2 Surgery offers the best probability of cure for patients with NSCLC, but surgery cannot be proposed for locally advanced or metastatic stages. In spite of aggressive therapy, however, prognosis of lung cancer patients is generally very poor. Survival at 5 years is 35% for NSCLC operated patients and Ͻ 5% for inoperable NSCLC. Survival is Ͻ 20% at 2 years for limited SCLC and Ͻ 2% for extensive disease. 3-5 Thus, the development of novel diagnostic techniques to identify lung cancer may facilitate earlier diagnosis of primary or recurring cancers and lead to more effective treatments and improved prognosis.As in other cancers, accumulation of genetic alterations is common in lung cancer and can include gene mutations, allelic losses, allelic instabilities and aberrant gene methylation that target oncogenes or tumor suppressor genes (TSG). 6,7 Among microsatellite (MS) alterations, primary lung cancers seldom show microsatellite instability (MSI) but are more often characterized by frequent loss of heterozygosity (LOH). 8 Remarkably, the frequency of MS alterations reported in lung cancers varies substantially and obviously depends on the markers analyzed. For lung cancer, frequent LOH has been reported in regions of chromosomes 3, 5, 9, 13 and 17, with the highest frequency occurring at 3p. 9 -14 Nevertheless, comparison of allelotypes have identified some consistent differences in LOH frequencies such as 50 -80% and 80 -100% at 17p13, 20 -30% and 80 -90% at 13q, 60% and 0 -10% at 9p21, 50% and 90% at 3p in NSCLC and in SCLC, respectively. 14 -17 It has long been known that the concentration of free-circulating DNA in plasma is higher in tumor patients than in healthy people. 18 Microsatellite analysis, mutation analysis in genomic or mitochondrial DNA and gene promot...