RESUMEN
Systemic mastocytosis (SM) is a myeloproliferative neoplasm displaying abnormal mast cell proliferation. It is subdivided into different forms, including aggressive systemic mastocytosis (ASM) and systemic mastocytosis with an associated hematologic neoplasm (SM-AHN). Oncogenic genetic alterations include point mutations, mainly the KIT D816V, conferring poor prognosis and therapy resistance, and fusion genes, with those involving PDGFRA/PDGFRB as the most recurrent events. We here describe an ASM case negative to the KIT D816V and JAK2 V617F alterations but showing a RUNX1 frameshift heterozygous mutation and the co-occurrence of three fusion transcripts. The first one, PRKG2::PDGFRB, was generated by a balanced t(4;5)(q24;q32) translocation as the sole abnormality. Other two novel chimeras, KAT6A::NCOA2 and RXRA::NOTCH1, originated from cryptic intra-chromosomal abnormalities. The patient rapidly evolved towards SM-AHN, characterized by the persistence of the PRKG2::PDGFRB chimera, due to the presence of an extra copy of the der(5)t(4;5)(q24;q34) chromosome and an increase in the RUNX1 mutation allelic frequency. The results indicated that the transcriptional landscape and the mutational profile of SM deserve attention to predict the evolution and prognosis of this complex disease, whose classification criteria are still a matter of debate.
Asunto(s)
Subunidad alfa 2 del Factor de Unión al Sitio Principal , Mutación del Sistema de Lectura , Mastocitosis Sistémica , Proteínas de Fusión Oncogénica , Humanos , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Mastocitosis Sistémica/genética , Proteínas de Fusión Oncogénica/genética , Receptor Notch1/genética , Coactivador 2 del Receptor Nuclear/genética , Masculino , Heterocigoto , Femenino , Persona de Mediana Edad , Histona AcetiltransferasasRESUMEN
BACKGROUND: The "neuromatrix" theory of Melzack and the studies of Decety on motor imagery have opened the way to an alternative rehabilitation method in chronic pain. AIM: To evaluate the role of motor imagery in chronic shoulder pain rehabilitation. DESIGN: Case report. SETTING: University outpatient rehabilitation. POPULATION: A 49-year-old female with chronic shoulder pain. METHODS: Neurocognitive approach, which involves the use of a new tool called "naval battle" to achieve chronic pain relief as assessed by the Visual Analogic Scale (VAS) and McGill Pain Questionnaire (MPQ). The Shoulder Rating Questionnaire (SRQ) and Constant Scale (CS) were used to measure functional improvement. RESULTS: The results indicate significant pain relief (71%) and improvement in functionality (50%). CONCLUSION: The results seem to confirm the accuracy of the hypothesis on the genesis of chronic pain as a perceptive "discoherency" and that motor imagery can remake a coherence of afferences at central level in chronic pain. CLINICAL REHABILITATION IMPACT: The use of motor imagery in rehabilitation can be a viable alternative in chronic shoulder pain resistant to other rehabilitation protocols.
