The rare translocation t(14;21)(q11;q22) detected in a Moroccan patient with T-cell acute lymphoblastic leukemia.

Cytogenetic studies of acute lymphoblastic leukemia have been at the forefront of research in the pathogenesis of cancer. The presence of recurring chromosomal abnormalities (either numeral or structural rearrangements) provides immediate clues to the genetic events leading to leukemia and many abnormalities have important prognostic significance. The rare translocation t(14,21)(q11.2;q22) has been described in pediatric T lineage ALL in only one case so far in 2000. The present study is a case report of an ALL case in which we found a t(14,21)(q11.2;q22) as a non random chromosomal abnormality among 70 analyzed pediatric ALL cases referred exclusively to BIOLAB Laboratory from the children hospital of Morocco.

Immunogenicity, efficacy and safety of Nuwiq® (human-cl rhFVIII) in previously untreated patients with severe haemophilia A-Interim results from the NuProtect Study.

INTRODUCTION: Nuwiq® (Human-cl rhFVIII) is a fourth generation recombinant FVIII, produced in a human cell line, without chemical modification or protein fusion. No inhibitors developed in studies with Nuwiq® in 201 previously treated patients with haemophilia A (HA). The immunogenicity, efficacy and safety of Nuwiq® in previously untreated patients (PUPs) with severe HA are being assessed in the ongoing NuProtect study. METHODS: The study, conducted across 38 centres worldwide, is evaluating 110 true PUPs of all ages and ethnicities enrolled for study up to 100 exposure days (EDs) or 5 years maximum. The primary objective is to assess the immunogenicity of Nuwiq® (inhibitor activity ≥0.6 BU) using the Nijmegen-modified Bethesda assay at a central laboratory. RESULTS: Data for 66 PUPs with ≥20 EDs from a preplanned interim analysis were analysed. High-titre (HT) inhibitors developed in 8 of 66 patients after a median of 11.5 EDs (range 6-24). Five patients developed low-titre inhibitors (4 transient). The cumulative incidence (95% confidence interval) was 12.8% (4.5%, 21.2%) for HT inhibitors and 20.8% (10.7%, 31.0%) for all inhibitors. During inhibitor-free periods, median annualized bleeding rates during prophylaxis were 0 for spontaneous bleeds and 2.40 for all bleeds. Efficacy was rated as "excellent" or "good" in treating 91.8% of bleeds. Efficacy of surgical prophylaxis was "excellent" or "good" for 8 (89%) procedures and "moderate" for 1 (11%). No tolerability concerns were evident. CONCLUSION: These interim data show a cumulative incidence of 12.8% for HT inhibitors and convincing efficacy and tolerability in PUPs treated with Nuwiq® .

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream.

Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the fibrinogen A alpha-chain gene (FGA), but also in the fibrinogen B beta-chain gene (FGB) and the fibrinogen gamma-chain gene (FGG). We report here a novel frameshift mutation (p.Glu262AspfsX158) in FGA exon 5 predicted to lead to a truncated polypeptide with an exceptionally long stretch of abnormal residues identified in homozygosity in a patient with congenital afibrinogenemia. Interestingly, five other frameshift mutations predicted to truncate at the same stop codon have already been described in FGA exon 5.

[Thymic hyperplasia following treatment for nephroblastoma]. / Hypertrophie thymique après une chimiothérapie pour un néphroblastome.

UNLABELLED: Thymic hyperplasia in response to stress is a well known phenomenon. Thymic hyperplasia has also been described after chemotherapeutic treatment for malignancies in children. CASE REPORT: A three-year-old girl was followed up from the age of 18 months for a left kidney nephroblastoma treated by combination of chemotherapy (vincristin, actinomycin and adriamycin) and surgery. Assessment at the end of treatment was normal. Four months after the end of treatment, pulmonary radiography showed mediastinal enlargement, which was shown to originate in the thymus at thoracic CT scan. A recurrence of the disease was suspected. Biopsy showed thymic hyperplasia without evidence of tumor cells. Mediastinal enlargement then disappeared spontaneously 2 months later. CONCLUSION: Thymic hyperplasia occurring during remission of a cancer treated by chemotherapy is a diagnostic dilemma as it suggests mediastinal reccurence of the disease. Needle aspiration cytology is an appropriate investigation in thymic hyperplasia. No steroid therapy should be used before histologic diagnosis of thymic hyperplasia.

[Langerhans-cell histiocytosis of the orbit. A case study]. / Histiocytose langerhansienne à localisation orbitaire. A propos d'un cas.

PURPOSE: Langerhans' cell histiocytosis is a rare disease representing less than 1% of orbital tumors. METHODS: We report a case of Langerhans cell histiocytosis with orbital involvement in a 9-year-old boy. He presented with an inflammatory swelling if the left lateral orbital wall. The computed tomographic scan revealed an orbital cellular mass with lytic bone lesion within the orbital roof and intracranial enlargement. RESULTS: The cytological study after a biopsy showed infiltrates of histiocytes derived from Langerhans cells. Diagnosis was confirmed by immunohistochemistry, which identified positive staining with anti-S100 and anti-CD1a antibodies. The rapidly expanding orbital tumor, posing a threat of ocular compression as well as intracranial spreading, was treated by chemotherapy (Vinblastine) combined with a steroid. CONCLUSION: A 2-year follow-up showed no evidence of recurrence or systemic involvement. According to this observation, the authors describe the clinicopathological and histological features of orbital involvement in Langerhans cell histiocytosis.

[Clear cell sarcoma of the kidney. A study of 13 cases]. / Sarcome rénal à cellules claires. A propos d'une série de 13 cas.

UNLABELLED: Clear cell sarcoma of the kidney (CCSK) also called a "bone-metastasizing renal tumor of childhood" is the second common pediatric renal neoplasm. This tumor is associated with a higher rate of relapse and a wider distribution of metastases than Wilms' tumor. PATIENTS AND METHODS: We have reviewed records of 13 cases of CCSK among 277 renal tumors (5%) diagnosed at the children's hospital of Rabat between 1990 and 2002. RESULTS: The median age at diagnosis was 14 months (5 months-9 years). The male to female ratio was 5.5:1.00. Abdominal mass, usually the first physical finding, was associated with hematuria in four cases. No congenital malformation syndrome or familial Wilms' tumor were observed. Imaging studies found out seven right and six left intrarenal processes. Preoperative chemotherapy was given according to the SIOP9, SIOP93-01 and GFAOP 98 protocols. Twelve of 13 children underwent nephrectomy. Tumor measurements varied through 450-3450 g and 7-26 cm. The classic morphologic pattern was seen in nine cases (69%). The distribution local stage was I: three cases; II: three cases; III: six cases; IV: one case. Postoperative chemotherapy and radiotherapy (21 600-30 600 cGy) was done in 10 cases. With a median follow up of 44 months, four patients showed bone metastases (31%), four are alive in CR, four are lost for follow up and five died. CONCLUSION: CCSK remains the pediatric renal tumor most frequently misdiagnosed. Its aggressiveness and its ability to give bone metastases need to recognize early this diagnosis for an adapted treatment.

[Non-Hodgkin's lymphoma with protein S deficiency]. / Lymphome non hodgkinien associé à un déficit en protéine S.

Venous thrombosis is rare in children. It can be either acquired or of constitutional origin. Thrombosis during non-Hodgkin lymphoma remains exceptional and is usually locally associated to the tumoral process, raising the issue of its tumoral or cruoric nature. The treatment is based on anticoagulation concomitantly to chemotherapy. We report on a 4-year-old boy admitted for mediastinal non-Hodgkin lymphoma, who developed a thrombosis of the superior vena cava associated to protein S-deficiency. The mechanism of thrombosis may have been multifactorial: associated protein S-deficiency, vascular compression, tumoral process and chemotherapy.

[Intracerebral granulocytic sarcoma. A case report]. / Le sarcome granulocytaire intra-cérébral.

Granulocytic sarcoma is a tumor composed of proliferating myeloblastic cells, generally found in the orbit. A brain localization is rare. We report the case of a 11-year-old boy treated in our unit for acute myeloblastic leukemia (AML 4 Eo. FAB). After 21 months of complete remission, he developed headache and facial palsy. The CT scan visualized the presence of two frontal and occipital masses. The spinal tap revealed blastic cells in the CSF. The study of the bone morrow showed medullar relapse. A new medullar and cerebro-meningeal remission was obtained with chemotherapy and radiotherapy. CSF and the bone marrow studies can help avoid stereotaxic biopsy can be avoided in this type of tumor

[Pleuro-pulmonary blastoma. Report of 4 cases]. / Le blastome pleuro-pulmonaire. A propos de quatre observations.

Pleuropulmonary blastoma is an uncommon malignant lung tumor observed in children. Outcome is often unfavorable. Two boys and two girls, mean age 4.5 years, were admitted for nonspecific respiratory signs. Oriented by radiology findings, the diagnosis of pleuropulmonary blastoma was confirmed at pathology examination of a pneumonectomy specimen. Three of the children were given postoperative adjuvant chemotherapy. There were three deaths and one child was lost to follow-up. We discuss the clinical features of pleuropulmonary blastoma. No optimal treatment has been defined for this often fatal tumor.

[Arterial thrombosis in the course of nephrotic syndrome. Report of three cases]. / Les thromboses artérielles au cours du syndrome néphrotique. A propos de trois observations.

Vascular thrombosis remains severe complication in patients with nephrotic syndrome. Both venous and arterial thrombosis are observed. We report three new cases of arterial thrombosis in patients with nephrotic syndrome. The role of acquired hemostasis disorders, inducing hypercoagulability, is predominant. Extramembranous glomerulonephritis remains the most frequent cause of nephrotic syndrome, complicated by vascular thrombosis. Treatment is based on anticoagulation and corticosteroid therapy. Search for proteinuria should be part of the etiology work-up in all patients with vascular thrombosis of undetermined origin.