BackgroundThe translocation t(1;19)(q23;p13), which results in the TCF3-PBX1 chimeric gene, is one of the most frequent rearrangements observed in B cell acute lymphoblastic leukemia. It appears in both adult and pediatric patients with B cell acute lymphoblastic leukemia at an overall frequency of 3 to 5%. Most cases of pre-B cell acute lymphoblastic leukemia carrying the translocation t(1;19) have a typical immunophenotype with homogeneous expression of CD19, CD10, CD9, complete absence of CD34, and at least diminished CD20. Moreover, the translocation t(1;19) correlates with known clinical high risk factors, such as elevated white blood cell count, high serum lactate dehydrogenase levels, and central nervous system involvement; early reports indicated that patients with translocation t(1;19) had a poor outcome under standard treatment.Case presentationWe report the case of a 15-year-old Syrian boy with pre-B cell acute lymphoblastic leukemia with abnormal karyotype with a der(19)t(1;19)(q21.1;p13.3) and two yet unreported chromosomal aberrations: an interstitial deletion 6q12 to 6q26 and a der(13)t(1;13)(q21.1;p13). According to the literature, cases who are translocation t(1;19)-positive have a significantly higher incidence of central nervous system relapse than patients with acute lymphoblastic leukemia without the translocation. Of interest, central nervous system involvement was also seen in our patient. ConclusionsTo the best of our knowledge, this is the first case of childhood pre-B cell acute lymphoblastic leukemia with an unbalanced translocation t(1;19) with two additional chromosomal aberrations, del(6)(q12q26) and t(1;13)(q21.3;p13), which seem to be recurrent and could influence clinical outcome. Also the present case confirms the impact of the translocation t(1;19) on central nervous system relapse, which should be studied for underlying mechanisms in future.

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Background: The aggressive T-cell acute lymphoblastic leukemia (T-ALL) is one of the frequently occurring malignancies of the thymocytes. T-ALL is observed in 15% and 25% of all new diagnosed ALL cases in children and adults, respectively. Notably, T-ALL has a 3-fold higher incidence in males than in females. In nearly half of T-ALL cases, structural and/or numerical chromosomal abnormalities are detected, which have an important prognostic significance. A well-known genetic subtype of B-ALL, high hyperdiploidy (HeH) (51-65 chromosomes) is associated with good survival and an excellent outcome. The commonly acquired chromosomes in HeH are +4, +6, +10, +14, +17, +18, +21 and +X. However, how

Background: Kallmann syndrome (KS) and CHARGE syndrome (CS) are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous with at least eight genes being involved in its pathogenesis, whereas CS is caused by autosomal dominant mutations exclusively in CHD7 gene. The majority of CS-cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent-to-child transmission of a CHD7 mutation, were described. The aim of the study: To report a paternal transmission of a variant in exon 32 of the CHD7 gene (c.6923C>T) in a familial case originally suggested to be affected by KS. Materials and methods: Five genes associated with KS were analyzed using Sanger sequencing and MLPA in a 17-year-old male. Results: The heterozygous variant leading to a change of aminoacid serine at position 2,308 to leucine was found in father his three children. Conclusion: Overall this report confirms the existence of KS without CS symptoms, caused by a mutation in a gene reported pathogenic only in CS.