A Novel Malignant Peritoneal Mesothelioma with STRN Exon 2 and ALK Exon 20: A Case Report and Literature Review

Recently, several malignant peritoneal mesotheliomas (MPMs), occurring in young women without asbestos exposure and with fusion genes such as anaplastic lymphoma kinase (ALK) and Ewing sarcoma breakpoint region 1, have been reported. In the present case, we encountered MPM with STRN‐ALK fusion in a 17‐year‐old female adolescent. The case did not respond to chemotherapy and is currently in a clinical trial of alectinib. This is the fourth reported case of MPM with STRN‐ALK fusion. Of the 45 cancer cases with STRN‐ALK fusion in which the fusion partners were examined, all cases except for the current case showed fusion of exon 3 of STRN and exon 20 of ALK. This is the first case with fusion of exon 2 of STRN and exon 20 of ALK. Further advances in cancer genomic medicine may help clarify the clinical significance of this new fusion.Key Points

• Malignant peritoneal mesotheliomas (MPMs) can occur in young women without asbestos exposure and show fusion genes that activate anaplastic lymphoma kinase (ALK) by gene rearrangement.
• ALK rearrangement and the fusion partner can be detected by companion diagnostics and by next generation sequencing.
• Patients with MPMs with ALK rearrangement may benefit from target therapy.

     

A case report of Vibrio furnissii bacteremia and cellulitis in a malnourished patient without an apparent site of entry

We herein report a case of Vibrio furnissii bacteremia with bilateral lower limb cellulitis. A 53-year-old Japanese man with a mood disorder presented to our hospital with fever and a complaint of an inability to walk. Two sets of blood cultures became positive for V. furnissii. The treatment regimen was modified to ceftazidime and doxycycline. The patient recovered without relapse. Despite thorough examinations, portal of entry of V. furnissii remained unclear. Although the bacteria was first misidentified as V. fluvialis by the phenotyping assay (API rapid ID 32E) and matrix-assisted laser-desorption/ionization time-of-flight mass spectrometry, it was later confirmed as V. furnissii by dnaJ gene sequencing.     

A novel urinary microRNA biomarker panel for detecting gastric cancer

Journal of Gastroenterology - Gastric cancer (GC) is one of the most common causes of cancer deaths worldwide; however, reliable and non-invasive screening methods for GC are not established....     

Chromosomal copy number analysis of products of conception by conventional karyotyping and next-generation sequencing

PurposeChromosomal abnormalities are a major cause of spontaneous abortion, and conventional G‐banded karyotyping (G‐banding) is mainly utilized for chromosomal analysis. Recently, next‐generation sequencing (NGS) has been introduced for chromosomal analysis. Here, we aimed to investigate the applicability and utility of NGS‐based chromosomal analysis of products of conception (POC) on chorionic villus samples from spontaneous abortion.MethodsThe results of chromosomal analysis of 7 chorionic villus samples from spontaneous abortion were compared between conventional G‐banding and NGS‐based chromosomal copy number analysis. Age dependency and frequency of each chromosomal aneuploidy were evaluated for 279 cases analyzed by NGS.ResultsExcluding two cases (culture failure and maternal cell contamination), the results were consistent between G‐banding and NGS. For cases analyzed by NGS, the rate of chromosomal abnormality increased in a maternal age‐dependent manner. The frequency of each chromosomal aneuploidy detected by NGS was almost the same as that previously reported. Finally, NGS analysis was possible for difficult cases by G‐banding analysis, such as culture failure, maternal cell contamination, long‐term storage cases, and low cell number.ConclusionsChromosome analysis using NGS not only obtains comparable results to conventional G‐banding, but also can analyze POC more accurately and efficiently.     

Systemic Atrioventricular Valve Replacement in Patients With Functional Single Ventricle

Fig. A is a receiver operating characteristic (ROC) curve for geometric orifice area index (GOAI) and mortality within 2 years following systemic atrioventricular valve replacement (SAVVR). Cutoff point of GOAI was 6.44 (area under curve was 0.718, P = 0.034). Therefore, GOAI >6.0 was defined as “oversized prosthesis” in this study. Fig. B is scatterplot of GOAI vs body surface area (BSA) in all patients (Fig. B-1) and in patients who underwent SAVVR before or at the time of bidirectional cavopulmonary shunt (BCPS) (Fig. B-2). Open green circles represent living patients and open red triangle represents dead patients. Multivariate analysis indicated GOAI >6.0 (oversized prosthesis) (P = 0.001; hazard ratio, 14.5), BSA < 0.28 m² (P = 0.007; hazard ratio, 31.1), preoperative inotropic support (P < 0.001; hazard ratio, 24.5), primary SAVVR (P = 0.044; hazard ratio, 6.1), and intra- or postoperative extracorporeal membrane oxygenation (ECMO) (P < 0.001; hazard ratio, 53.2) were risk factors for mortality. BCPS, bidirectional cavopulmonary shunt; BSA, body surface area; ECMO, extracorporeal membrane oxygenation; GOAI, geometric orifice area index; ROC, receiver operating characteristic; SAVVR, systemic atrioventricular valve replacement

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Small Cystic Pancreatic Neuroendocrine Neoplasm with Huge Liver and Bone Metastases

Pancreatic neuroendocrine neoplasms occasionally have a cystic component. We herein report a case of multiple hepatic tumors, including a huge one and a 24-mm sized pancreatic cystic lesion. The hepatic tumor showed an enhancement pattern consistent with hepatic adenoma. The pancreatic cystic lesion revealed a thickened outside border and a solid inside component, which was enhanced following a contrast study, suggesting cystic pancreatic neuroendocrine neoplasm. Surgical resection was performed. After the surgery, somatostatin receptor scintigraphy detected an occult lumbar spine metastasis. Huge multiple liver and bone metastases of the neuroendocrine neoplasm G2 component were seen, with a G1 small primary lesion.