Notes

Current principles about osteonecrosis of the femoral mind.
NLSDM is a rare metabolic myopathy caused by mutations in the patatin-like phosphatase domain protein 2 (PAPLA2) genes. In the present study, we describe the clinical and genetic findings in our Chinese patient with NLSDM. Sequence analysis of PNPLA2 gene was performed. Gene analysis for PNPLA2 revealed an identical homozygous mutation c.757+1G>T in our patient. The clinical symptoms of our patient are related to the type of mutation in the PNPLA2 gene and environmental effects. IJCEP Copyright © 2020.We report a 38-year-old man who presented with bilateral conjunctival congestion, hoarseness, and progressively growing pruritic, infiltrated skin lesions that had first begun over the face and neck, and later spread to the trunk and the limbs in 4 months. The clinical appearance of the lesions mimics granulomatous rosacea, acne vulgaris, or pityrosporum folliculitis. Histopathologic examination of the lesions from the face and chest both revealed dense dermal nodular lymphohistiocytic infiltrates which were positive for CD68 and S-100, but negative for CD1a. A systemic work-up for him detected no lymphadenopathy or other systemic involvement. A diagnosis of extranodal Rosai-Dorfman disease was made, and the patient received systemic glucocorticoids, with considerable improvement after 4 months of therapy. IJCEP Copyright © 2020.BACKGROUND Adenoid cystic carcinoma (ACC) is a rare malignancy of epithelial origin. It involves a variety of histologic types and often has distant metastasis. ACC metastasis to the liver is rare and usually involves spread to other organs. CASE PRESENTATION We report a case of liver metastasis from a submandibular gland adenoid cystic carcinoma 11 years after resection of tumor. The patient was admitted to our hospital due to a liver-occupying lesion found by abdominal B-ultrasound, CT and MRI. A metastasis was found only in the liver, and after discussion the patient was treated with surgery. This tumor was histologically consistent with the diagnostic criteria of ACC. The patient was followed up 24 months after surgery, and showed no recurrence in the liver parenchyma at the site of operation or other organs. CONCLUSIONS ACC is a very rare tumor and its pathogenesis is not completely clear. There are few articles about the imaging findings of ACC in the liver, and so it was difficult for us to make a correct diagnosis in clinical practice. The diagnosis of ACC mainly relies on pathologic examination, so we summarize the correlation between imaging and pathology. IJCEP Copyright © 2020.This article reports the pathologic features and malignant biological behavior of a perivascular epithelioid cell neoplasm (PEComa) with the clinical manifestation being endometrial polyps. The case was cured with curettage in a local hospital one year ago. The postoperative diagnosis was "endometrial polyps". This time, due to "irregular bleeding", we carried out another curettage in our hospital. After the operation, 3 pieces of polyps were inspected with diameters of 0.3 cm, 0.5 cm and 0.6 cm, respectively. The tumor consisted of epithelioid cells with alveolar and nesting pattern and showed a diffuse strong expression of HMB45, Melan-A and TFE3. The patient then underwent a hysterectomy and the "polyps" were sent for pathological examination. The result showed that tumor cells infiltrated the deep muscle layer, close to the outer membrane, suggesting a malignant biologic behavior. TFE3-related PEComa is different from general PEComa. This neoplasm and Melanotic Xp11 renal carcinoma have similar clinicopathologic features, histology, immunity and molecular phenotypes, belonging to the same type of tumor. It has been suggested in the literature naming this neoplasm as 'Xp11 neoplasm with melanocytic differentiation' or 'melanotic Xp11 neoplasm'. Our case has expanded our understanding of PEComa characteristics and increased data for TFE3 translocation-related PEComa, reminding us to avoid misdiagnosis when PEComa manifests as small polyps. IJCEP Copyright © 2020.B-cell acute lymphoblastic leukemia (B-ALL) is the most common malignancy in children. Killer cell immunoglobulin-like receptors (KIRs) are mainly expressed on natural killer (NK) cells and regulate killing of cancer cells. To investigate the possible association of KIR genes with B-ALL in Chinese children, we used polymerase chain reaction with sequence-specific primers (PCR-SSP) to determine the KIR genotypes of 137 B-ALL patients and 288 healthy children of Chinese Han origin. Herein we report no significant difference in the carrying frequency of individual KIR genes and haplotypes between patients and controls; however, individuals carrying C4Tx genotypes were more frequent in the B-ALL group compared with healthy controls (11.7% vs. 5.9%, P=0.038). In addition, the centromeric KIR gene cluster, KIR2DS2-2DL2-2DS3-2DL5, was significantly increased in the B-ALL group compared with healthy controls (13.9% vs. 7.3%, P=0.030). These data suggest that the C4Tx genotype and centromeric KIR gene cluster (KIR2DS2-2DL2-2DS3-2DL5) might predispose to susceptibility to B-ALL in Chinese children. IJCEP Copyright © 2020.Precision medicine requires accurate multi-gene clinical diagnostics. In current clinical practice, the minimum confidence threshold for variant calling of targeted next-generation sequencing (NGS) on surgical specimens is set to 2%-5%. check details However, few studies have been conducted to identify a wide range of actionable variants using capture-based ultra-deep targeted sequencing, which has limit of detection (LOD) of 1%. The AmoyDx® Essential NGS panel for capture-based ultra-deep targeted sequencing (dual-indexed sequencing adapters with UMIs) was performed on 372 surgical specimens obtained from treatment-naive patients with primary lung adenocarcinoma, to detect actionable somatic driver mutations associated with each patient. Single-nucleotide variants, insertion/deletion events, and rearrangements were reported. Amplification-refractory mutation system (ARMS) assay and fluorescence in situ hybridization (FISH) were performed for the validation of hotspot mutations in EGFR and ALK, ROS1, and RET fusions. Potentially actionable variants were identified in 80.
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