ABSTRACT
INTRODUCTION: Small cell cancer of the gallbladder is a rare malignancy with a poor prognosis. There is limited information in the literature on the best therapeutic approach towards this cancer with anecdotal therapy extrapolated from experience in small cell cancer of the lung. CASE REPORT: We are presenting a 70-year-old woman with this cancer who is undergoing multimodality treatment, along with a review of literature on previously reported cases.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Carcinoma, Small Cell/therapy , Gallbladder Neoplasms/therapy , Aged , Carcinoma, Small Cell/pathology , Chemotherapy, Adjuvant , Cholecystectomy, Laparoscopic , Cisplatin/administration & dosage , Combined Modality Therapy , Etoposide/administration & dosage , Female , Gallbladder Neoplasms/pathology , Humans , Neoplasm Staging , RadiotherapyABSTRACT
Familial transmissions of unbalanced chromosomal abnormalities are rare. We report here the first case of a maternally inherited pure partial duplication of the long arm of chromosome 6 [46,XX,dup(6)(q21q22.1)mat]. The proband was referred for karyotyping as she presented intrauterine growth retardation (IUGR), moderate mental retardation and facial dysmorphism. Molecular cytogenetics analysis with various BACs showed a duplication of 5-10 Mb between 6q21 and 6q22.1. The proband's mother was found to have the same chromosome abnormality and a similar phenotype, but less severe dysmorphism. This variability in clinical findings between generations may have several causes, including attenuation with aging, imprinting or mosaicism. Only three other cases of pure partial 6q duplication similar to that of our case have been reported. The available information for all four cases was used to refine the karyotype-phenotype correlations for duplications of the 6q21q22 segment.
