Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome

Abstract

We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer

“…However, osteosarcoma and MDS have rarely been reported in children with GGS, unlike basal cell carcinoma, odontogenic keratocyst, and medulloblastoma, which are frequently reported. Some cases of childhood medulloblastoma are successfully treated with chemotherapy and radiation therapy; however, osteosarcoma and MDS develop later 7,8. Furthermore, there have been several reports of osteosarcoma as second cancers, which may include cancer predisposition syndrome 9,10.…”

“…Some cases of childhood medulloblastoma are successfully treated with chemotherapy and radiation therapy; however, osteosarcoma and MDS develop later. 7,8 Furthermore, there have been several reports of osteosarcoma as second cancers, which may include cancer predisposition syndrome. 9,10 The incidence of second cancers after chemotherapy with alkylating agents in GGS is unknown.…”