ABSTRACT
In addition to morphologic analysis, molecular diagnostic work up of Spitz tumours is often of great value for their accurate diagnosis/classification. Nowadays, next-generation sequencing (NGS) is the predominant screening method in molecular diagnostics. Up to 80% of these melanocytic neoplasms comprise gene fusions as genetic anomalies for which the driver codes for a protein harbouring a kinase domain. However, because of the variety of fusion partners the use of PCR-based targeted enrichment NGS methods is not recommended. We describe a series of four Spitz tumour samples in which distinct gene fusions were detected by hybridisation-based capture NGS (TPM3::ALK, LIMA1::ROS1, LRRFIP2::ROS1 and MYO5A::RET). Two of these fusions are not previously described. All 4 fusions were confirmed by reverse transcription-PCR. These findings demonstrate the need for molecular analysis that can detect unknown fusions in Spitz neoplasms for optimal diagnosis.
ABSTRACT
Teaching Point: The appearance of pneumatoceles in a patient with organizing pneumonia is an early sign of leak syndrome and is a significant finding as its rupture can lead to a life-threatening tension pneumothorax. Air leak syndrome (ALS), consisting of pneumothorax, subcutaneous emphysema and pneumomediastinum, is a rare complication of organizing pneumonia (OP). We report a case of a patient with bleomycin-induced OP who develops a tension pneumothorax due to a ruptured pneumatocele caused by ALS and correlate with histopathological analysis. This is the third case in the literature with these findings and the first with a tension pneumothorax.
ABSTRACT
In medicine, not everything is what it seems and sometimes you need all the pieces of the puzzle in order to complete the diagnosis. This is a case of a disease with two different faces and a review of its respiratory impact. https://bit.ly/2SDKwE5.
