Pulmonary lymphoepithelioma-like carcinoma is a rare type of non–small cell lung cancer. The tumor is usually discovered in young, nonsmoking Asian populations. The patients are diagnosed at an earlier stage and have a better prognosis than those with other non–small cell lung cancers. Histologically, the tumor morphology is indistinguishable from undifferentiated carcinoma of the nasopharynx. It is characterized by nests or diffuse sheets of syncytial tumor cells, which show round to oval vesicular nuclei with prominent nucleoli, along with an admixed heavy lymphocytic and plasma cell infiltrate. The presence of Epstein-Barr virus in the tumor cells is crucial for the diagnosis. The differential diagnoses include lymphoepithelioma-like carcinoma from other sites and pulmonary involvement of lymphoma. EGFR mutations and ALK rearrangements are not commonly found in lymphoepithelioma-like carcinoma, in contrast to programmed death ligand-1 expression, which is shown in a majority of cases.
IntroductionSudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims.Materials and methodsA detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the Exome Aggregation Consortium (ExAc) project.ResultsCombining both autopsy and molecular autopsy enabled the potential identification of cause of death in 81% of the cases. Among the 25 victims with WES data, 72% (18/25) were found to have potentially causative SUDS mutations. The majority of the victims had at a mutation in the TTN gene (8/18 = 44%), and only one victim had an SCN5A mutation.ConclusionsWES can help to identify the genetic causes in victims of SUDS and may help to further guide investigations into their relatives to prevent additional SUDS victims.
BackgroundTransportation into the host cell nucleus is crucial for replication and transcription of influenza virus. The classical nuclear import is regulated by specific cellular factor, importin-α. Seven isoforms of importin-α have been identified in human. The preference of importin-α3 of avian influenza virus and -α7 isoform of human strains during replication in human cells was previously identified. In addition, both avian and human influenza viruses were shown to use importin-α1 isoform for their replication.FindingThe mRNA levels of importin-α1, −α3, and –α7 isoforms in human respiratory tract was determined by real-time RT-PCR. The results indicate that mRNA level of importin-α7 was significantly higher than that of importin-α1 (p-value < 0.0001) and importin-α3 (p-value < 0.0001) isoforms in human nasal mucosa while importin-α1 was detected as the highest expression importin-α isoform in lung tissues.ConclusionsThese results may explain the preference of importin-α7 isoforms in seasonal influenza viruses in human upper respiratory tract and may suggest a selective pressure toward importin-α7 in human respiratory tract infection of an avian virus.
Diagnosis of alleged child sexual abuse can be made from history in conjunction with physical examination, psychosocial evaluation, and laboratory investigations. Sexually transmitted infection associated with sexual abuse is found in 5 % of the victims, with Neisseria gonorrhoeae being the most common organism. Identification of sexually transmitted disease, particularly N. gonorrhoeae infection, can be useful for the diagnosis of sexual abuse and thus, the initiation of the child protection process. Polymerase Chain Reaction (PCR) is a newer diagnostic assay with a higher sensitivity compared with conventional culture method. In addition, N. gonorrhoeae strain typing can also be used to identify the abuser. In this case series, we present the application of N. gonorrhoeae strain typing (PFGE technique) to identify the abuser, and the confirmation of gonococcal vaginitis by PCR technique.
Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease of the lung with a characteristic feature of diffuse cystic changes in bilateral lungs. Lung transplantation is considered to be one of the effective treatments in end stage disease. Patients with LAM who underwent lung transplant tend to have more favorable outcome compared to other end stage lung diseases. We report a case of a female patient who was diagnosed with LAM and received bilateral lung transplantation at 45 years of age. Subsequent allograft biopsies were significant for mild acute cellular rejection (Grade A2), for which the immunosuppressive regimen was adjusted accordingly. At 7 years post-transplant, she presented with shortness of breath, cough, and fatigue, and diagnosed with a viral infection. Her chest imaging was unremarkable. However, a transbronchial biopsy was performed to rule out rejection and revealed foci of spindle cells proliferation, with positive HMB-45 and smooth muscle actin immunohistochemical studies, confirming the diagnosis of recurrent LAM. After she was discharged, she was re-admitted 1 week later with severe COVID-19. Her clinical course was complicated by acute respiratory distress syndrome, respiratory failure, and gastrointestinal hemorrhage. The patient passed away on day 36 of hospital stay. Autopsy was requested and confirmed the pathology of recurrent LAM and diffuse alveolar damage from COVID-19.
We reported a case of cryptogenic organizing pneumonia (COP) presenting with an unusual diffuse micronodular pattern (DMP) mimicking miliary lung infiltration. The patient is a 66-year-old man with a past medical history of diabetes mellitus type 2 and hyperlipidemia who presented with progressive dyspnea associated with significant weight loss and night sweats for 2 weeks. Upon admission, the patient’s clinical condition rapidly progressed to respiratory failure requiring mechanical ventilation. Initial Chest X-ray (CXR) showed diffuse reticulonodular infiltration mimicking miliary pattern. Chest computed tomography (CT) showed diffuse centrilobular micronodular infiltrations with features of a tree-in-bud pattern consistent with the CXR findings. He was then started on empiric antibiotics for community-acquired pneumonia and underwent a diagnostic bronchoscopy with alveolar lavage and transbronchial biopsies, which yielded negative cultures and unrevealing pathology. Tissue from CT-guided lung biopsy performed later on was also inconclusive. Due to the lack of clinical improvement, he eventually underwent surgical lung biopsy. The pathology result showed organizing pneumonia (OP) pattern with heavy lymphoplasmacytic infiltrates and numerous multinucleated giant cells. His final culture results, microbiological data and serology workup for autoimmune disease were all unremarkable. The patient was diagnosed with COP and was started on systemic corticosteroids. He displayed dramatic clinical improvement and was successfully liberated from the ventilator. Subsequent chest imaging showed resolution of the reticulonodular infiltrations. Early diagnosis for OP and ability to distinguish OP from infectious pneumonitides are critical as the majority of patients with OP respond promptly to corticosteroids. Common findings of radiographic pattern for OP are patchy air space consolidation or ground-glass opacity, yet DMP is another rare radiographic pattern that must be recognized, especially in COP. In summary, this case illustrates a rare radiographic presentation of COP. With early recognition and prompt diagnosis, proper treatment can significantly prevent morbidity and reduce mortality.
Objectives To determine characteristic features of myocardial infarction (MI) diagnosed at autopsy and establish the incidence of discrepancy. Methods Autopsy cases at a tertiary hospital with a pathologic diagnosis of acute MI were evaluated for clinicopathologic features. Modified Goldman’s classification was used to classify discrepant cases. Results Of 529 autopsy cases, 19 (3.6%) demonstrated acute/subacute MI as a pathologic diagnosis. Thrombosis was identified in a minority of cases (3/19, 15.8%). Major clinicopathologic discrepancies were identified in four (21.1%) cases. Conclusions Although acute MI is an uncommon diagnosis rendered at hospital autopsy, a notable subset of cases demonstrates diagnostic discrepancy between the clinical impression and ultimate pathologic diagnosis. Interestingly, most MI cases in this series are not related to plaque disruption and thus best classified as a type 2 MI, which is associated with imbalance between oxygen demand and supply.
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