Prenatal diagnosis and appearance of nasal chondromesenchymal hamartoma in a fetus: A case report.

We report a case of fetal nasal chondromesenchymal hamartoma (NCMH) first noted on prenatal ultrasound at 34 weeks. A solid-cystic mass which predominantly hyperechoicgenic and relatively clear margin, was located on the left nasal cavity and pharynx, with anterior extension and moderate blood flow. Further follow-up ultrasound examination depicted an enlargement of the tumor. Fetal magnetic resonance imaging (MRI) showed an inhomogeneous signal lesion involving the ethmoid sinuses, nasal cavity, and pharynx. The infant, delivered via cesarean section at 37 + 5 weeks, required urgent neonatology intervention due to respiratory difficulties. Neonatal MRI and computer tomography were subsequently performed at 1 day after birth. Surgical excision occurred at 7 days, confirming NCMH via histological examination. Awareness of this entity, is essential to avoid potentially harmful therapies, especially in prenatal period. Considered NCMH in diagnosis when fetal nasal masses presenting with predominantly high-level echo, well-defined margins and moderate vascularity.

Case report and literature review: antenatal diagnosis of a fetal anaplastic astrocytoma.

OBJECTIVES: To describe the ultrasonographic appearance of congenital anaplastic astrocytoma, so as to provide diagnostic clues for it. An updated review of the literature was also carried out. RESULTS: There was a case of fetal anaplastic astrocytoma detected by ultrasound at 37 + 1 weeks of gestation. It showed that a hypoechoic mass was located in the left hemisphere with a relatively clear margin and subtle color flows. Prenatal magnetic resonance imaging (MRI) which was taken subsequently confirmed the result of ultrasound. Intratumoral hemorrhage was observed in later follow-up and further confirmed by histological examination. The fetus was delivered vaginally at 39 + 6 weeks. The infant died 2 h after delivery due to respiration failure. The histological examination confirmed an anaplastic astrocytoma. CONCLUSIONS: Congenital anaplastic astrocytoma commonly detected by ultrasound has a relatively better perinatal prognosis, especially compared with glioblastoma. Prenatal ultrasonography diagnosis accurately is of critical importance. The anaplastic astrocytoma should be considered in cases in which fetal images reveal a heterogeneous echogenic mass in the brain, especially in the presence of intratumoral hemorrhage, subtle color flow, and relatively clear margin.

An adult case of diffuse midline glioma with H3 K27M mutation.

Cartilaginous metaplasia is rare in primary central nervous system (CNS) neoplasms and has not been described in the histone 3 (H3) gene (H3) with a substitution of lysine to methionine (H3 K27M mutant) diffuse midline glioma before. Here, we report a case of H3 K27M mutant diffuse midline glioma with cartilaginous metaplasia in a 56-year-old woman. Magnetic resonance imaging (MRI) revealed a ring-enhanced lesion located in the medulla oblongata and extended superiorly into the fourth ventricle. The tumor was macroscopically completely resected. Histologically, the tumor was composed of a gliomatous component and a well-differentiated cartilaginous component. Microvascular proliferation and necrosis were noted. According to immunohistochemical staining, glial cells were diffusely and strongly positive for glial fibrillary acidic protein (GFAP), oligodendrocyte lineage transcription factor 2 (Olig2), H3 K27M, and S-100 protein but negative for H3K27me3. The chondrocytes also were positive for GFAP and S-100 protein. The H3 K27M mutation was confirmed by sequencing in both the gliomatous and cartilaginous components, suggesting a common origin from the same progenitor cells. Based on these findings, the tumor was diagnosed as a diffuse midline glioma with H3 K27M mutation with widespread cartilaginous metaplasia, corresponding to WHO grade IV. This is an extremely rare H3 K27M mutant diffuse midline glioma with cartilaginous metaplasia, and reporting this unusual case adds to the understanding of this tumor type.

A novel transurethral resection technique for superficial bladder tumor: retrograde en bloc resection.

BACKGROUND: Transurethral resection of bladder tumor (TURBT) is the standard approach to bladder tumors but suffers from several disadvantages. The aim of this study was to evaluate the safety and efficacy of a novel procedure of retrograde en bloc resection of bladder tumor (RERBT) with conventional monopolar resection electrode for the treatment of superficial bladder tumors. METHODS: RERBT and conventional TURBT (C-TURBT) were conducted, respectively, in 40 and 50 patients diagnosed with superficial papillary bladder tumors. In the RERBT group, the tumors were en bloc removed retrogradely under direct vision using a conventional monopolar electrode. Patients' clinicopathological, intraoperative, and postoperative data were compared retrospectively between the RERBT and C-TURBT groups. RESULTS: Of the 90 patients, 40 underwent RERBT and 50 underwent C-TURBT. Both groups were comparable in clinicopathological characteristic. RERBT could be performed as safely and effectively as C-TURBT. There were no significant differences in operative time and surgical complications. The cumulative recurrence rates between groups were similar during up to 18 months follow-up. The detrusor muscle could be identified pathologically in 100% of RERBT tumor specimens and the biopsy of tumor bases, but only in 54 and 70%, respectively, of C-TURBT samples (P < 0.01). CONCLUSIONS: The RERBT technique is feasible and safe for superficial bladder tumors using conventional monopolar resection setting, with the advantages of adequate tumor resection and the ability to collect good quality tumor specimens for pathological diagnosis and staging compared to conventional TURBT.

[Detection of EML4-ALK fusion gene in non-small cell lung cancer and its clinicopathologic correlation].

OBJECTIVE: To investigate the frequency of EML4-ALK fusion gene in non-small-cell lung cancer (NSCLC) patients, and its correlation with clinicopathologic features. METHODS: Real-time PCR was used to detect the presence of EML4-ALK fusion gene in 268 cases of NSCLCs using paraffin-embedded tissue samples(among which 164 samples were re-validated by Sanger sequencing). Related clinicopathological correlation was analyzed. RESULTS: EML4-ALK fusion gene was found in 4.1% (11/268) of the cases. One hundred and sixty four samples were verified by Sanger sequencing, and the overall coincidence of the results of two methods (Sanger sequencing and Real-time PCR) was 100%. Female patients (5.9%, 5/85), ≤ 60 years of age (4.3%, 6/140), non-smokers (6.8%, 8/118) and adenocarcinomas (7.6%, 10/132) had a higher mutation rate than that in male patients (3.3%, 6/183), > 60 years of age (4.0%, 5/124), smokers (1.6%, 2/132) and squamous cell carcinomas (1.3%, 1/79), although no statistical significance in age (P = 0.918), gender (P = 0.503), smoking history (P = 0.092) and histological type (P = 0.094). CONCLUSIONS: Chinese NSCLC patients have a 4.1% detection rate of EML4-ALK fusion gene in the tumor tissues. Female, non-smoker and adenocarcinoma histological subtype tend to be associated with a higher rate of EML4-ALK gene fusion.

[Screening for EGFR mutations in lung cancer by a novel real-time PCR with double-loop probe and Sanger DNA sequencing].

OBJECTIVE: To map the frequency and types of EGFR gene mutations present in lung cancer tissues. To evaluate the clinical applicability of a novel real-time double-loop probe PCR of which the ADx-EGFR kit is based, and to compare its performance with traditional Sanger DNA sequencing in the detection of somatic mutations of tumor genes. METHODS: A total of 208 formalin-fixed paraffin-embedded (FFPE) tumor samples were tested. Genomic DNA of the tissue samples was extracted and purified, and subjected to both traditional PCR amplification, Sanger sequencing of EGFR gene in exon 18, 19, 20, 21, and ADx's EGFR mutation detection kit. The mutation rates for EGFR gene in exon 18, 19, 20, 21, as well as the frequency of each mutation detected by the two methods, were analyzed. RESULTS: The traditional Sanger DNA sequencing technique was successfully performed in 196 out of 208 (94.2%) lung cancer samples, and 22 samples (11.2%) showed EGFR gene mutations. ADx-EGFR kit was successfully used in the lung cancers of all of the 208 cases (100.0%), and 40 samples (19.2%) showed mutations. In the lung cancer samples analyzed, mutations were mainly detected in the exon 19 and exon 21 L858R point mutation, i.e. 4.8% (10/208) and 11.6% (23/208) of total mutations, respectively, and the remaining mutations were rare. CONCLUSIONS: The success rate of ADx-EGFR real-time PCR for formalin-fixed and paraffin-embedded tissues samples is significantly higher than that of Sanger sequencing (P < 0.01). There are significant differences between the two methods. ADx-EGFR real-time PCR shows a much higher successful detection rate and mutation rate of lung cancer tissues compared with that of Sanger sequencing. As a result, the real-time PCR with ADx-EGFR kit is proved to have a good clinical applicability and a strong advantage over the traditional Sanger DNA sequencing. It is an effective and reliable tool for clinical screening of somatic gene mutations in tumors.