Essential versus reactive thrombocythemia in children: retrospective analyses of 12 cases.

Background: Essential thrombocythemia (ET) rarely occurs in the pediatric population and little is known about the clinical course and the molecular characteristics.

Procedure: In this retrospective multi-institutional study we examine the clinical, hematological, and molecular features of 12 children aged 5-16 years with thrombocytosis and a suspected diagnosis of ET.

Results: Median follow-up was 59 months (range 10-72).

MALT lymphoma in children: a report from the NHL-BFM Study Group.

Marginal zone lymphomas of MALT type comprise a considerable group of indolent B-cell non-Hodgkin lymphoma (NHL) in adult patients. In childhood, however, these tumors are extremely rare, as nearly all pediatric patients have aggressive NHL. Among 2,703 children and adolescents registered into the prospective multicenter NHL-BFM treatment studies since 1986, only 4 patients (0.

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders second most often caused by deficiency of steroid 11-hydroxylase (CYP11B1) due to mutations in the CYP11B1 gene. We studied the functional and structural consequences of two novel missense mutations (W116C, L299P) and an in-frame 3-bp deletion (DeltaF438) in the CYP11B gene, detected in three unrelated families. All patients are suffering from classical CYP11B1 deficiency.

[Retrospective analysis of the clinical course of 12 children given the diagnosis essential thrombocythemia].

Background: Essential Thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by excessive production of platelets. The disorder is usually affecting adults and is rarely diagnosed in children.

Patients And Methods: In this retrospective study we describe 12 children aged 5-16 years in whom ET was presumed.