Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.

PURPOSE: To present a case series of two fraternal twin girls who passed away from brain and colorectal cancers attributed to Constitutional Mismatch Repair Deficiency syndrome (CMMRD). A review of literature for CMMRD-related pediatric malignancies is also presented. METHODS: The two girls were diagnosed with cancer at the age of 11 and 13 respectively. The early onset of multiple malignancies in the family raised clinical suspicion for a potential genetic mutation. The presence of café-au-lait spots at clinical examination led to further investigations for neurofibromatosis. RESULTS: Neurofibromatosis type 1 testing was negative in both children. Genetic analysis turned out positive for biallelic MSH6 mutations in the two girls, leading to CMMRD syndrome diagnosis. Both parents and two out of three alive siblings were diagnosed with Lynch syndrome. CONCLUSIONS: Colorectal cancer is a very rare finding in childhood and should raise suspicion for CMMRD syndrome and should be followed by regular screening.

Does the sternum play a role in the aetiopathogenesis of adolescent idiopathic scoliosis? Preliminary data of a new theory.

BACKGROUND: The role of the sternum, if any, in the aetiopathogenesis of adolescent idiopathic scoliosis (AIS) remains unexplored. We evaluated morphological features of the sternum for the first time in individuals with AIS. METHODS: Medical records of a tertiary hospital were reviewed from 2010 to 2018 to identify adolescents with thoracic or thoracolumbar AIS. We included scoliotic patients between 14 and 18 years of age on radiologic evaluation without previous treatment for the disease. A complete history and 3D computed tomography (CT) scan were also prerequisites for study inclusion. We compared the shape and position of the sternum between adolescents with AIS and age-matched individuals as control. The control group was recruited with a random selection from patients attending hospital for extraskeletal reasons during the same period. Using CT, we evaluated the part of the sternum found in the right front quadrant of the axial plane at the level of the middle of the manubrium of the sternum and apical vertebra.  We also provided an evidence-based theory of the sternum involvement in AIS aetiopathogenesis. RESULTS: Twelve scoliotic patients with mean age 16.6 and mean Cobb angle 39.7 degrees were included in the study. No difference was found between groups at the level of the manubrium of the sternum (p =0.486). At the level of the apical vertebra, there was a significant difference of the part of sternum found in the right front quadrant of the axial plane between groups (95 % vs 56 %, p <0.001). CONCLUSIONS: These are preliminary data demonstrating for the first-time morphological differences of the sternum, between AIS and age-matched non-scoliotic individuals. The sternum of adolescents with AIS was more inclined than non-scoliotic controls that could raise the hypothesis of sternum involvement in AIS pathogenesis. HIPPOKRATIA 2018, 22(4): 173-177.