Neurofibromatosis type 2-related schwannomatosis was first described in 1822. Although it is a different entity with a distinct presentation, it was initially confused with neurofibromatosis type 1 by our forefathers and continues to be confused by clinicians and patients today. Historically, physicians recognized that some patients presented earlier and had more severe phenotypes (Wishart versus Gardner). This has been better understood through genetic and molecular studies, which indicate that the differences are likely related to mosaicism rather than germline mutations. Recently, the nomenclature was changed to Neurofibromatosis type 2-related schwannomatosis, which is more appropriate. Diagnostic criteria have also been modified with the addition of genetic testing results. Treatment remains a conundrum. Historically, surgery has been the mainstay; however, it is risky for large tumors. Vascular endothelial growth factor inhibitors, such as bevacizumab, have been helpful in reducing the size of acoustic schwannomas and have been shown to preserve hearing, along with alleviating other symptoms. However, the medication has clear toxicities, and patients frequently become dependent on treatment or even develop tumor resistance. Numerous trials are ongoing to investigate reduced dosing regimens of vascular endothelial growth factor inhibitors and alternative molecular targets to determine whether the natural progression of the disease can be altered. Gene therapy is on the horizon.

Gaucher Disease (GD) is a rare, non-malignant inherited lysosomal storage disorder with a strong hematological component. Although the disease is non-malignant, patients are at risk of developing future hematological malignancies. Hematologists are the largest specialty diagnosing the condition, but diagnosis is usually incidental, following investigation for unexplained splenomegaly, thrombocytopenia, or anemia. Hematologists must be alert to the possibility of GD when patients present with unexplained moderate-to-severe splenomegaly, thrombocytopenia, chronic anemia, and osteolytic bone disease. The major barriers to diagnosis are that the common presenting features of GD overlap with those of other common hematological conditions. As a result, GD education needs to be shifted from the spectrum of metabolic disorders into mainstream hematology, especially because fast and accurate diagnosis is important for both the individual patient and their wider family.

Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease that is undergoing a revolution in its treatment paradigm. Receptor kinases including Janus (JAK) kinases, Bruton's tyrosine kinase (BTK), and spleen tyrosine kinase (SYK) are essential for signalling of many cytokines and receptors on immune cells. Suppression of these kinases changes the activation state of target cells, leading to inhibition of cytokine actions and effects such as autoantibody secretion. Therefore, therapeutic kinase inhibitors hold potential as treatments for SLE, but their efficacy and safety remain to be determined. Tyrosine kinase 2 and JAK inhibitors such as deucravacitinib and upadacitinib respectively have shown positive results in phase 2 trials, while further research into the JAK inhibitor baricitinib and BTK and SYK inhibitors has been less encouraging. This review summarises the current state of research on the use of kinase inhibitors in SLE.