Regression of a spinal schwannoma after Pomalidomide.

A 77-year old female with a history of neurofibromatosis type 2 (NF2) was diagnosed with a spinal schwannoma that was managed conservatively over a decade. During this time, follow up imaging revealed this lesion had been growing and the patient had become symptomatic from it necessitating surgical decompression. However, the patient had been diagnosed with multiple myeloma and underwent treatment with Pomalidomide chemotherapy which delayed surgery for the spinal schwannoma. Further imaging of the spine revealed significant regression in the size of the spinal schwannoma. This phenomenon has not previously been reported and this report aims to explore the implications of Pomalidomide in patients with NF2 related spinal schwannomas.

Chronic lymphocytic leukemia presenting as unilateral extraocular muscle enlargement and proptosis.

Orbital involvement in chronic lymphocytic leukemia (CLL) is rare with very few published cases. We describe a case of unilateral isolated extraocular muscle enlargement in a patient with CLL. An incisional biopsy was performed from the left medial rectus muscle and histology revealed a lymphocytic infiltrate suggestive of CLL. Complete resolution of signs and symptoms was subsequently achieved with chemotherapy. We would suggest that in patients presenting with atypical clinical features, it is important to consider nonthyroid-related causes of extraocular muscle enlargement and a muscle biopsy should be considered to exclude neoplastic causes.

Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.

A proportion of cytogenetic abnormalities in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML) may escape detection by high-resolution genomic technologies, but can be identified by conventional cytogenetic and molecular analysis. Here, we report the detection of a reciprocal translocation t(7;21)(p22;q22) in the marrow of two adults with MDS and AML, using conventional cytogenetic analysis and fluorescence-in situ-hybridization (FISH). Reverse-transcription polymerase chain reaction (RT-PCR) and sequence analysis identified a fusion between RUNX1 and the gene encoding ubiquitin specific peptidase-42 (USP42), with splice-variants and variable break-points within RUNX1. Combined cytomorphology and FISH studies in MDS marrow revealed abnormal RUNX1 signals within megakaryocytes, suggesting that the acquisition of t(7;21)(p22;q22) does not confer complete differentiation arrest and may represent an early genetic event in leukaemogenesis. Single nucleotide polymorphism-arrays failed to detect additional sub-microscopic genomic changes predisposing to or associated with t(7;21). Molecular analysis of 100 MDS and AML marrow specimens by RT-PCR did not reveal new cases with the RUNX1-USP42 fusion. Thus, our studies have identified t(7;21)(p22;q22) as a rare but recurrent abnormality in MDS/AML, with the existence of alternative spliced forms of the RUNX1-USP42 transcript in different patients. Further studies are required to identify the potential contribution of these splice-variants to disease heterogeneity.

Long-term follow-up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis.

Hairy cell leukaemia (HCL) was first described 50 years ago. Median survival was then 4 years. The purine analogues, introduced in the 1980s, transformed this prognosis. We reviewed data retrospectively from 233 patients, treated with pentostatin (n = 188) or cladribine (n = 45), to investigate the current long-term outlook. Median follow-up was 16 years. There were no significant differences in outcome between the two agents. Overall, the complete response (CR) rate was 80% and median relapse-free survival was 16 years. After relapse (n = 79) or non-response (n = 5), 26 patients received pentostatin and 58 cladribine; 69% achieved CR and median relapse-free survival was 11 years. After third-line therapy (n = 23), 50% achieved CR and median relapse-free survival was 6.5 years. However, CRs were equally durable, whether after first, second or third-line therapy. Complete responders and those with both haemoglobin >100 g/l and platelet count >100 x 10(9)/l before treatment had the longest relapse-free survival (P < 0.0001). Patients still in CR at 5 years had only a 25% risk of relapse by 15 years. Outcomes for patients with recurrent disease improved with the monoclonal antibody rituximab, combined with either purine analogue. Overall only eight patients died of HCL-related causes. Patients achieving a CR can expect a normal lifespan.

Prospective audit of the effectiveness of hydrocortisone premedication on drug delivery reactions following amphotericin B lipid complex *.

OBJECTIVE: Amphotericin B lipid complex (ABLC), a lipid-based formulation of amphotericin B, is an effective treatment for fungal infections, but is associated with mild to moderate drug delivery reactions (DDRs), such as fever, rigors and chills, in some patients. Although clinical studies have indicated that premedication with hydrocortisone may reduce the incidence of DDRs, there are currently limited confirmatory data from clinical practice. The aim of the audit was to assess prospectively a hydrocortisone premedication strategy with ABLC to reduce the rate of DDRs. METHODS: Over an 18-month period, all cancer patients treated with ABLC at The Royal Shrewsbury Hospital were audited prospectively. Each patient received 100 mg of intravenous hydrocortisone 15-30 minutes prior to each ABLC infusion. The primary outcome was to determine the DDR rate per cycle of ABLC. RESULTS: A total of 275 cycles of ABLC (mean dosage 930.6 mg) were administered during the course of the study period, and 16.0% were associated with DDRs. The majority of reactions occurred following the first infusion of a cycle (15.3%; subsequent infusions: 2.9%). The most common DDRs were rigor (15.3%) and fever (12.7%). There was no significant difference in the DDR rate (17.2 vs. 15.5%) or types of reactions between ABLC-naïve and previously treated patients. The dosage of ABLC administered had no effect on the DDR rate. Female gender, being neutropenic and younger age were found to be predictive of having a DDR. CONCLUSIONS: The audit demonstrates that premedication with hydrocortisone results in a low incidence of DDRs following ABLC. The main limitation of this study is the lack of a randomised control group.