ABSTRACT
PURPOSE OF REVIEW: Lung cancer is one of the most common malignancies in the whole world, and the pulmonologist is generally the first medical professional to meet the patient and decide what method of tumour sampling is preferable in each specific case. It is imperative for pulmonary physicians to be aware of the intricacies of the diagnostic process, and understand the multiple challenges that are encountered, from the moment the tissue specimen leaves their offices and is sent to the pathology laboratory, until the diagnosis reaches the patient and treating physician. RECENT FINDINGS: The new 2021 WHO classification of thoracic tumours recommended a minimum immunohistochemical (IHC) diagnostic panel for nonsmall cell lung cancer (NSCLC), and following publications of different institutional and country-based guidelines, advocated basic molecular testing for epithelial growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK) and programmed cell death ligand 1 (PD-L1) to be initiated by the diagnosing pathologist in all cases of biopsy or resection specimens. In general, sequential testing for molecular biomarkers was not recommended due to tissue wastage, instead next generation sequencing (NGS) diagnostic panel was supported. SUMMARY: The lung cancer specimen has to undergo histologic diagnosis through a panel of IHC studies, and -preferably, a reflex molecular study by NGS including several targetable genes. Adequate communication and clinical information preclude the pathologist from "overusing" the tissue for additional studies, while focusing on preservation of material for molecular testing.
Subject(s)
Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/genetics , Lung Neoplasms/drug therapy , Carcinoma, Non-Small-Cell Lung/diagnosis , Carcinoma, Non-Small-Cell Lung/genetics , Carcinoma, Non-Small-Cell Lung/drug therapy , Biomarkers , BiopsyABSTRACT
The authors present a 45-year-old lady with a rare undifferentiated round cell tumour of the lung with a ESWR1-CREM fusion gene that progressed despite multiple lines of therapy. The tumour was Somatostatin Receptors Type 2 (SSTR2) positive and avid on 68Gallium-DOTATATE imaging. This allowed for novel treatment with Peptide Receptor Radionuclide Therapy (PRRT) using 177Lutetium-DOTATATE after all other standard of care options were exhausted.
ABSTRACT
INTRODUCTION: We sought to assess the utility of the International System for Serous Fluid Cytopathology (TIS) in the context of our department's routine practice. MATERIALS AND METHODS: We examined 1028 archived effusion cytology (pleural, peritoneal, and pericardial) cases from 2018 to 2019, and re-classified them along the international system into the following diagnostic categories: nondiagnostic (ND), negative for malignancy (NFM), atypia cells of undetermined significance (AUS), suspicious for malignancy (SFM), and malignant (MAL). RESULTS: The full distribution of the cases examined was as follows: ND 2.0%; NFM 66.1%; AUS 6.0%; SFM 4.7%; MAL 21.2%. Overall risk of malignancy for each category was calculated as: ND 30.0%; NFM 18.0%; AUS 61.9%; SFM 100%; MAL 94.4%. The overall performance attributes of TIS were as follows: sensitivity 57.1%; specificity 98.3%; positive predictive value 94.4%; negative predictive value 82.0%; diagnostic accuracy 84.5%. CONCLUSIONS: The new classification was simple and intuitive to use and our results appear to fall within the expected ranges of the new guidelines, with risk of malignancy and accuracy comparable to similar studies. The availability of a cell block allowed for refinement of the diagnosis in a majority of cases with equivocal cytology, though this was dependent on the cell yield.
Subject(s)
Body Fluids , Neoplasms , Humans , Cytodiagnosis/methods , Exudates and Transudates , Neoplasms/diagnosis , Neoplasms/pathology , Predictive Value of TestsABSTRACT
Single cell genomics offers an unprecedented resolution to interrogate genetic heterogeneity in a patient's tumour at the intercellular level. However, the DNA yield per cell is insufficient for today's sequencing library preparation protocols. This necessitates DNA amplification which is a key source of experimental noise. We provide an evaluation of two protocols using micro-fluidics based amplification for whole exome sequencing, which is an experimental scenario commonly used in single cell genomics. The results highlight their respective biases and relative strengths in identification of single nucleotide variations. Towards this end, we introduce a workflow SoVaTSiC, which allows for quality evaluation and somatic variant identification of single cell data. As proof of concept, the framework was applied to study a lung adenocarcinoma tumour. The analysis provides insights into tumour phylogeny by identifying key mutational events in lung adenocarcinoma evolution. The consequence of this inference is supported by the histology of the tumour and demonstrates usefulness of the approach.
ABSTRACT
Tracheobronchial leiomyoma is a rare pulmonary neoplasm accounting for <2% of benign tumours of the lower airway. Published case series reported bronchoscopic resectability with laser ablation for lesions located in the large airway. Surgery was performed for tumours with wide-based and tumours located in segmental bronchus or lung parenchyma. This is the first reported case of complete bronchoscopic cryoresection of leiomyoma arising from the subsegmental bronchi and illustrating the cryopreservation of its histologic morphology. A 55-year-old Chinese male who was a life-long non-smoker presented with chronic cough, left-sided chest pain and loss of weight. Chest radiograph showed left lower lobe (LLL) collapse, with the accompanying computed tomography scan of the thorax showing a non-enhancing soft tissue lesion in the LLL bronchus. Rigid bronchoscopy was performed, with rigid forceps resection followed by cryosurgery of the tumour to its base. Histology was consistent with a primary bronchial leiomyoma. Surveillance bronchoscopy performed 6 months later revealed no tumour recurrence. The patient also had complete resolution of his symptoms. Cryosurgery is a promising treatment modality, in complement with conventional forceps resection, for benign airway neoplasms.
Subject(s)
Hemangioma/pathology , Hemoptysis/etiology , Trachea/pathology , Tracheal Neoplasms/pathology , Bronchoscopy , Hemangioma/complications , Hemangioma/diagnostic imaging , Hemangioma/surgery , Humans , Tomography, X-Ray Computed , Tracheal Neoplasms/complications , Tracheal Neoplasms/diagnostic imaging , Tracheal Neoplasms/surgery , Young AdultABSTRACT
Papillary tumors of the peripheral lung containing ciliated cells and extracellular mucin include solitary peripheral ciliated glandular papilloma, ciliated muconodular papillary tumor, and well-differentiated papillary adenocarcinoma with cilia formation. We report the case of a 19-year-old woman who was a nonsmoker and presented with an incidental small peripheral lung nodule. The resection specimen showed a soft grayish nodule. Histologic examination further revealed a relatively circumscribed mucinous nodule featuring a tubulopapillary tumor composed of ciliated columnar cells and goblet cells, accompanied with abundant extracellular mucin. No lepidic growth pattern was evident. The tumor cells were immunoreactive for cytokeratin 7, thyroid transcription factor-1, and carcinoembryonic antigen, whereas p63 and cytokeratin 5/6 highlighted the presence of basal cells. Next-generation sequencing did not identify any genetic alterations in targeted regions and mutational hotspots of a panel of 22 genes commonly implicated in lung and colon cancers. Taken together, our case was most likely a ciliated muconodular papillary tumor.
Subject(s)
Adenocarcinoma, Mucinous/pathology , Adenocarcinoma, Papillary/pathology , Lung Neoplasms/pathology , Solitary Pulmonary Nodule/pathology , Adenocarcinoma, Mucinous/chemistry , Adenocarcinoma, Mucinous/surgery , Adenocarcinoma, Papillary/chemistry , Adenocarcinoma, Papillary/surgery , Biomarkers, Tumor/analysis , Biopsy , Cilia/pathology , Female , Humans , Immunohistochemistry , Lung Neoplasms/chemistry , Lung Neoplasms/surgery , Pneumonectomy/methods , Solitary Pulmonary Nodule/chemistry , Solitary Pulmonary Nodule/surgery , Thoracic Surgery, Video-Assisted , Tomography, X-Ray Computed , Young AdultABSTRACT
Fluorodeoxyglucose (FDG) hepatic superscan refers to the diffuse intense uptake of 18F-FDG in the liver on positron emission tomography (PET), with reduced physiological activity in the brain and heart. The common causes include lymphoma and metastasis. In this case report, we describe the imaging features of tuberculosis as a rare cause of FDG hepatic superscan. PET imaging may be the only clue to a diagnosis of hepatic tuberculosis, as other imaging modalities may demonstrate only nonspecific hepatomegaly. It is important to consider this entity in the differential diagnosis of patients presenting with FDG hepatic superscan and proceed with liver biopsy for a definitive diagnosis.