Pitfalls in the diagnosis of biallelic PMS2 mutations

ANTELO, MARINA; MILITO, DANIELA; RHEES JENNIFER; ROCA, ENRIQUE; BARUGEL, MARIO; CUATRECASAS, MIRIAM; MOREIRA, LETICIA; LEOZ, MARIA LIZ; CARBALLAL, SABELA; OCAÑA, TERESA; PELLISÉ, MARÍA; CASTELLS, ANTONI; BOLAND, RICHARD C.; GOEL, AJAY; BALAGUER, FRANCESC

FAMILIAL CANCER

SPRINGER

Lugar: Berlin; Año: 2015 vol. 14 p. 411 - 414

1389-9600

Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as cafe´-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.