Medulloblastoma and Down Syndrome: An Extremely Rare Association

Abstract

Medulloblastoma has a reduced incidence in Down syndrome (DS). This protective characteristic has not been clarified yet. Here, we report the second case of SHH medulloblastoma and DS documented in the literature. A complete surgery was performed followed by reduced craniospinal irradiation dose and adjuvant chemotherapy. No evidence of tumor recurrence was observed. The overall survival was 9.1 years. No family history or physical stigma of other hereditary predisposition syndrome was found. In the elucidation of this extremely rare association, future case reports play an important role in defining the spectrum of brain tumors and their peculiar features in DS.

Spinal Atypical Teratoid Rhabdoid Tumor in a 14-year-old Child With Down Syndrome: A Case Report

“…2 Even though DS is highly linked with cancer predisposition, solid tumors are very rarely reported. 2 In an epidemiology study reported in 1998, Baird and Sadovnick found a 5 to 7 times greater relative risk of developing cancer than in the general population in children, adolescents, and young adults with Down syndrome. 10 However, the distribution of tumor type is fundamentally different, and individuals with DS are 150 and 33 times more likely to develop acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), respectively.…”

“…Various hypotheses have been formulated to explain this protection against various solid tumors, including the possibility that the increase in circulating endostatin concentration in individuals with Down syndrome might offer protection against the growth of solid tumors. 2,15 Furthermore, the lack of inhibitors such as thrombospondin-1 and tumstatin can accelerate tumor growth. 15 Epidemiology data on brain tumors in children with DS are rare.…”

“…D own syndrome (DS) is one of the most common chromosomal abnormality. 1,2 Children with Down syndrome are at an increased risk of developing acute myeloid and acute lymphoblastic leukemia. By contrast, individuals with Down syndrome exhibit significant protection from developing many forms of solid or central nervous system tumors.…”

“…Down syndrome (DS) is one of the most common chromosomal abnormality 1,2 . Children with Down syndrome are at an increased risk of developing acute myeloid and acute lymphoblastic leukemia.…”

“…Over the last decade, using this strategy, survival rates have shown an overall trend toward improved outcomes 9 . Children with DS show higher rates of severe toxicity to chemotherapy toxicity and higher treatment death rates 1,2 . They also have cognitive impairments, and the use of radiotherapy on the central nervous system raises ethical issues concerning further intellectual damage.…”