[Results of treatment with 2-chlorodeoxyadenosine in refractory or relapsed Langerhans cell histiocytosis. Study of 9 patients]. / Resultados del tratamiento con 2-clorodesoxiadenosina en la histiocitosis de células de Langerhans resistente o en recaída. Estudio de 9 pacientes.

BACKGROUND: To analyse the results of the treatment with 2-chlorodeoxyadenosine (2CdA) in 9 patients with refractory or relapsed Langerhans cell histiocytosis (LCH) tracted in 8 Spanish hospitals between 1993 and 1999. PATIENTS AND METHOD: In the 9 patients the following data were recorded: age, sex, organ involvement by LCH, first treatment and response, dose, number of cycles and schedule of administration 2CdA, response to 2CdA treatment, toxicity, disease-free survival (DFS) and overall survival (OS). RESULTS: Median age was 25 years (range, 6-63). All patients had multiorganic involvement by LCH, with severe organ dysfunction in 4. 2CdA was administered as second line treatment in 7 cases and as third line in 2. The 2CdA dose was 0.1 mg/kg per day during 5 days in the majority of patients, and interval between cycles was 4 weeks. In 2 cases a complete remission (CR) was achieved and 4 cases attained a partial remission (PR) (overall response rate 66%). The main toxicity was hematologic, with neutropenia grade > 2 in 5 cases and thrombocytopenia > 2 in 5. Four patients had infections, with fatal evolution in one of them. After a median follow-up of 8 months (range 2-17), 2 patients remained in CR (12 months both), 4 in PR (range 2-12 months) and one had active disease (17 months). The other two died due to progressive disease and Aspergillus spp. sepsis, respectively. The actuarial probabilities of DFS and OS were 58% (95% CI, 38-78%) and 71% (95% CI, 54-88%), respectively. CONCLUSIONS: 2CdA is an active drug for patients with refractory or relapsed LCH, and its main toxicity is myelosuppression. The usefulness of 2CdA, isolated or in combination with other drugs, in patients with refractory or relapsed LCH must be assessed in controlled studies.

[Rothmund-Thomson syndrome and osteosarcoma]. / Syndrome de Rothmund-Thomson et ostéosarcome.

BACKGROUND: The Rothmund-Thomson syndrome is a hereditary dermatosis frequently accompanied by less well-known non dermatologic features including osteogenic sarcoma. CASE REPORT: A girl developed the classical dermatologic features of the Rothmund-Thomson syndrome since the first months of life. When she was 6 years old, she suffered from painful limitation of motion of her left leg. X-rays, MNR imaging and bone scintigraphy showed typical features of osteosarcoma of the distal portion of the femur. Diagnosis was confirmed by histologic examination through open biopsy. The search for metastatic lesions was negative. The patient was given chemotherapy and the tumor was resected 45 days later followed by postoperative chemotherapy. CONCLUSION: About 12 similar cases of osteosarcoma have been reported in patients with the Rothmund-Thomson syndrome. A review of literature allows to recognize some peculiar features of such association.

Long term survival in metastatic nephroblastoma. A case report.

We describe a case of metastatic nephroblastoma presenting as renal rupture. Histology was "favorable". Lung metastases were discovered early during follow-up. Radiotherapy and surgical excision were therefore combined with intensive chemotherapy. Ten years later, the patient is symptom-free.