Andres Jerez

IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: A case report

SummaryThe frequency of monoclonal gammopathy of undetermined significance (MGUS) is higher in patients with type I Gaucher disease (GD I) than in the general population. Although enzyme replacement therapy is effective in the control of the disease, its effect on MGUS is still controversial. We present the case of a 65-year-old woman with extensive GD I associated with IgM MGUS, in whom enzyme replacement therapy succeeded in eradicating the monoclonal component. This observation further supports the idea that enzyme replacement therapy decreases the chronic antigenic stimulation responsible for gammopathies in Gaucher disease.

A polymorphism in FASL is associated with rituximab response in follicular lymphoma patients.

transaminases are a common event in young patients with thalassemia who are treated with deferasirox; the roles of the chelator, iron, and other unknown causes are not trivial to establish, and thus, the management of the patient’s daily routine is not easy. The regular assessment of renal function with monthly evaluation of serum creatinine and urine protein levels and reducing or temporarily stopping deferasirox when necessary seem to be the keys to preventing and avoiding tubulopathies and other important renal diseases.

Transient massive peripheral blood blastosis in patient with renal clear-cell carcinoma after treatment with high-dose recombinant interleuklin-2

A 35-year-old woman presented at the Orthopaedic Department with pain in the right hip. Pelvic CT showed a lytic lesion in the sacrum with an associated soft-tissue mass. CT-guided needle biopsy of the bone lesion disclosed clear-cell carcinoma metastasis. Further more, abdominal CT revealed a well-defi ned mass in the left kidney measuring 8×9 cm; thoracic CT showed other abnormalities. A nephrectomy was done for diagnostic and therapeutic purposes. As a result of the diagnosis of stage IV clear-cell renal carcinoma, which had a Fuhrman grade IV, an Eastern Cooperative Oncology Group grade 1, bone dissemination, and a high-risk level according to the University of California Los Angeles integrated staging system, high-dose recombinant interleukin-2 (HD-IL2) was started after recovery from surgery. The patient received 600 000 U/kg of intravenous IL-2 every 8 h for 5 days in two courses, the fi rst course beginning on day 1 and the second beginning on day 15. Throughout HD-IL2 administration, the patient also received commonly used concomitant medication. Baseline blood count before the second course of HD-IL2 was 11·1×10/L of leucocytes (44% neutrophils, 42% lymphocytes, 7% monocytes, 6% eosinophils, and 1% basophils), 114 g/L of haemoglobin, and 391×10/L of platelets. After the fourth dose of the second course of HD-IL2, the patient presented tachycardia (130 bpm), hypotension (70/30 mmHg), and oligoanuria with impairment of renal function (creatinine level 176·8 μmol/L). Metabolic acidosis (pH 7·2; HCO3 14·8 mEq/L) was also recorded. Finally, hypoxaemia (sO2 92%) and radiological bilateral interstitial infi ltrates, shown by chest radiography, revealed pulmonary oedema. The patient was subsequently admitted to the intensivecare unit where supplemental oxygen (3 L/min) and HCO3 were then initiated. Additionally, hypotension was treated with both crystalloids and norepinephrine administration (0·2 μg/kg per min). HD-IL2 was discontinued after the 12th dose of the second course because of its toxic eff ects. Symptoms resolved 2 days after the last dose of HD-IL2 was given; however, blood count showed leucocytosis (22×10/L) with mild anaemia (Haemoglobin 104 g/L) and thrombocytopenia (113×10/L). Diff erential blood count showed 53% undiff erentiated blast cells; 53% erythroblasts were also counted (fi gure). Acute leukaemia was ruled out by means of a bone marrow aspirate done 16 h later. Bone marrow smears showed a hypercellular marrow with a normal myeloid and erythroid ratio, a leftward shift of myeloid series with 2% undiff erentiated blast cells and 11% myeloid blast cells, and predominance (48%) of semimature and, to a lesser extent, mature granulopoietic cells with no dysplastic features. Megakaryocytic hyperplasia was also noted. No metastases were seen. Cytogenetic analysis done on 30 metaphases from unstimulated culture of the bone-marrow sample showed a 46XX karyotype with no structural chromosome anomaly. Blood count returned to baseline levels within the following 2 days. 6 weeks after the last dose of HD-IL2 had been given, an enlargement (35% increase in the larger diameter) of the bone mass was noted. Because the disease was refractory to immunotherapy, the patient has started treatment with sunitinib (SU11248) within a clinical trial. Clear-cell renal carcinoma is the most common adult renal neoplasm. HD-IL2 received approval from the Food and Drug Administration in 1992 for the treatment of patients with stage IV renal-cell carcinoma, on the basis of results of 255 patients who were included in seven phase II trials. In selected patients, the complete response rate was 7% (median follow up of 54 months, range 3–131 months) with actuarial curves predicting that 60% would be free Lancet Oncol 2007; 8: 275–76