The nodal status in breast cancer is a major prognostic factor in terms of survival. It also plays a role in the therapeutic decision-making process. Therefore, the evaluation of lymph node involvement in breast cancer is imperative in establishing a personalized treatment scheme. The sentinel lymph node procedure has proved successful for small breast tumors (T1-T2), limiting axillary lymphadenectomy and its side effects without changing overall survival. Even so, a substantial number of women must undergo axillary lymphadenectomy during a second surgery when the analysis of the sentinel node discloses major nodal involvement. Imaging can improve patient selection, especially those who appear eligible for immediate axillary lymphadenectomy. Ultrasound is able to depict morphological abnormalities in the lymph nodes such as cortical thickening, peripheral vascularization, hilar infiltration and loss of the kidney-shaped appearance of a normal node. When ultrasound is negative, the risk of massive nodal involvement is limited, thus allowing the oncologist to take an approach with the sentinel lymph node procedure. Magnetic resonance imaging (MRI) can also be useful in detecting pathological lymph nodes, particularly with diffusion-weighted MRI sequence.
Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is difficult and genotype/phenotype correlations remain elusive. Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions observed in the most frequent mitochondrial respiratory chain deficiencies so as to direct molecular genetic test in patients at risk of such diseases. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.
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