Subject(s)
Astrocytoma/metabolism , Brain Neoplasms/metabolism , Ependymoma/metabolism , Glioblastoma/metabolism , Infratentorial Neoplasms/metabolism , Oligodendroglioma/metabolism , Oncogene Proteins/metabolism , Astrocytoma/diagnosis , Brain Neoplasms/diagnosis , Ependymoma/diagnosis , Glioblastoma/diagnosis , Glioma/diagnosis , Glioma/metabolism , Histones/genetics , Histones/metabolism , Humans , Infratentorial Neoplasms/diagnosis , Oligodendroglioma/diagnosis , Sensitivity and SpecificitySubject(s)
Carcinoma in Situ/diagnosis , Corneal Diseases/diagnosis , Eye Neoplasms/diagnosis , Carcinoma in Situ/surgery , Corneal Diseases/surgery , Corneal Transplantation/methods , Eye Neoplasms/surgery , Humans , Microscopy, Confocal , Neoplasm Recurrence, Local/diagnosis , Tomography, Optical CoherenceABSTRACT
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS: Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. RESULTS: 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9â years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27â months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). CONCLUSIONS: In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance.
Subject(s)
Brain Neoplasms/diagnosis , Colorectal Neoplasms/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Adaptor Proteins, Signal Transducing/genetics , Adenosine Triphosphatases/genetics , Adolescent , Adult , Brain Neoplasms/genetics , Brain Neoplasms/therapy , Child , Child, Preschool , Colorectal Neoplasms/genetics , Colorectal Neoplasms/therapy , DNA Repair Enzymes/genetics , DNA-Binding Proteins/genetics , Female , Humans , Infant , Male , Mismatch Repair Endonuclease PMS2 , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Mutation , Neoplastic Syndromes, Hereditary/genetics , Neoplastic Syndromes, Hereditary/therapy , Nuclear Proteins/genetics , Treatment Outcome , Young AdultABSTRACT
OBJECTIVE: Mucinous (colloid) breast carcinoma accounts for 1-6% of all breast cancer. It comprises pure mucinous tumours and mixed infiltrating ductal carcinomas with a mucinous component. As this latter mixed form has a worse prognosis than pure colloid carcinoma, making this diagnosis on fine needle aspiration cytology (FNAC) might influence the choice of treatment. METHODS: We report a consecutive series of 22 cases consisting of 17 mixed and five pure mucinous carcinomas diagnosed by cytology and verified on histopathology. Patients underwent FNAC at the one-stop clinic of our institution during a 7-year period of time. Cytological findings were evaluated by a semi-quantitative method and included percentage of smear surface occupied by mucin, shape of cell groupings, size and outline of tumour nuclei as well as presence or absence of nucleolus. RESULTS: Three of five pure mucinous carcinomas displayed at least two of the following features: abundant mucin, small nuclei and/or regular nuclear outlines. Sparse mucin, large nuclei, irregular nuclear outlines or the presence of nucleoli were found in 7 out of 17 mixed mucinous carcinomas but not in pure tumours. CONCLUSION: Cytopathological identification of patients with pure mucinous carcinomas may be performed in a limited number of cases.