Variable gastrointestinal and urologic cancers in a Lynch syndrome II kindred.
There are no premonitory physical signs or biomarkers which can identify the genotypic status in Lynch syndrome II. Diagnosis is therefore dependent on the pedigree, with attention to cancer of all anatomic sites, inclusive of those cardinal features of its natural history. The tumor spectrum in Lynch syndrome II has continued to expand commensurately with increasing interest in this disorder. We report a family showing the constant cancer features of this syndrome but, in addition, occurrences of carcinoma of the bile duct, urologic system, and extremely early-onset carcinoma of the pancreas, in patients in the direct genetic lineage who were considered to be candidates for having inherited the deleterious genotype. Diagnosis of Lynch syndrome II is crucial in targeting its surveillance and management.
Lynch
H T
HT
Department of Preventive Medicine/Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178.
Richardson
J D
JD
Amin
M
M
Lynch
J F
JF
Cavalieri
R J
RJ
Bronson
E
E
Fusaro
R M
RM
D003110:Colonic Neoplasms / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000235:genetics; D010375:Pedigree; D014571:Urologic Neoplasms / Q000235:genetics*