Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21.

Intrachromosomal amplification of chromosome 21 (iAMP21) occurs in ∼2% of B-cell acute lymphoblastic leukemia (ALL) and is considered to confer a poor prognosis. The relapse risk is associated with therapy intensity, suggesting that other somatic mutations may influence iAMP21-ALL prognosis. This abnormality is characterized by multiple copies of the RUNX1 gene in chromosome 21 and appears to arise through multiple breakage-fusion bridge cycles and chromothripsis. Rob(15;21) or a ring chromosome 21 have been associated with an increased risk for iAMP21-ALL, suggesting that constitutional genetic abnormalities may also drive leukemogenesis. Here we describe homozygous deletion of the SH2B3 gene, chromothripsis of chromosome 21, and a non-Robertsonian somatic t(15;21)(q25.3;q22.1) with NTRK3 gene rearrangement in an adolescent with iAMP21-B-ALL. Molecular cytogenetic studies detected iAMP21 with aCGH analysis revealing further genomic imbalances. The RT-qPCR analysis detected elevated expression levels of RUNX1 (68-fold) and reduced expression of CDK6 (0.057-fold). Studies with constitutive cells collected from mouth swabs showed that SH2B3 biallelic deletion was a somatic alteration occurring during clonal evolution. The identification of novel secondary genetic changes was valuable to discuss sporadic iAMP21 leukemogenic mechanisms. For the first time, we show a t(15;21)(q25.3;q22.1) with NTRK3 rearrangement in an adolescent with iAMP21-ALL.

Avaliação fisiológica e comportamental de cães utilizados em terapia assistida por animais (TAA) / Phyisiological and behavioral assessment in dogs used in Animal-Assisted Therapy (AAT)

Realizou-se a observação comportamental de nove cães terapeutas (oito da raça Labrador Retriever e um Golden Retriever), dosaram-se cortisol sérico e salivar, aferiram-se a temperatura retal, a pressão arterial sistólica e as frequências cardíaca e respiratória nos seguintes momentos: M0 (média de três avaliações do cão em repouso) e em M1, M2 e M3 (imediatamente antes, imediatamente após e decorridas 24h das atividades de terapia assistida por animais - TAA), respectivamente. Não houve diferença significativa quanto às características estudadas (P>0,05), exceto pela temperatura, que foi mais elevada em M1 e M2 do que em M0 (P=0,009). A avaliação comportamental, realizada de maneira descritiva, não apresentou alteração negativa. Houve diferença significativa quanto à concentração de cortisol sérico entre os momentos M1 e M3 (P=0,071), e não ocorreu diferença da concentração do cortisol salivar entre os quatro momentos (P=0,746). As alterações observadas foram atribuídas à contenção e à manipulação dos animais e não desencadearam desconforto físico ou estresse dignos de nota em cães.

Behavioral observation of nine therapist dogs (eight Labrador Retrievers and one Golden Retriever) was performed and serum and salivar cortisol dosage, rectal temperature, systolic blood pressure and heart and respiratory rates were measured and evaluated at the following moments: M0 (average of three evaluations of the dog at rest) and M1, M2 e M3 (immediately before, at the end and 24 hours after the AAT activities, respectively). There was no significant difference in the parameters between the moments (P>0.05) except for temperature, which was higher in M1 and M2 than M0 (P=0.009). The behavioral assessment was conducted in a descriptive way and didn't present a negative effect. There was significant difference when comparing the serum cortisol levels between M1 and M3 (P=0.0712). There wasn't asignificant difference in salivary cortisol levels when comparing the values of the four moments (P=0.7458). The observed alterations are probably related to the containment and handling of animals, demonstrating that the therapy doesn't have a negative effect on dogs.