Unusually long survival in a case of medullomyoblastoma

Isochromosome 17q, MYC amplification and large cell/anaplastic phenotype in a case of medullomyoblastoma with extracranial metastases

“…Although there have been reported cases of survival of individuals with MMB for more than 10 years after presentation, the previous average survival for such patients has been documented at less than 3 years in the absence of available long-term follow-up data [3–4]. The persistent leptomeningeal involvement and occurrence of intra-abdominal metastases in the absence of a ventriculoperitoneal shunt in this case highlight the aggressive nature of the disease when in the presence of negative prognostic markers, specifically LC/A phenotype and MYC amplification [5–10, 13–16].…”

“…Prognosis has been described as unfavorable with few patients surviving more than 3 years [3–4], implying there may be an argument that these patients would benefit from high risk therapeutic regimens; however, evidence is lacking in this regard. Current treatment for patients with MMB parallels the standard treatment for those with MB, including tumor resection followed by irradiation and chemotherapy [1, 4].…”

Medulloblastoma with myogenic differentiation: long-term survival in a patient treated with aggressive combination therapy and autologous stem cell transplantation

“…The patient was found to be disease-free at 187 months post-diagnosis. In a separate report an 8-year-old boy was diagnosed in 1999 and treated following GTR, CSI and 6 cycles of combination chemotherapy and was disease-free 11 years after diagnosis [8]. …”

“…Two cases of long-term survival have been reported in children [2, 8], but there no reports of long-term survival in an adult. We present a case of a 21-year-old diagnosed with MMD in 1999 treated with aggressive combination therapy who remains a long-term disease-free survivor 11 years following his diagnosis.…”

Medulloblastoma with myogenic differentiation showing double immunopositivity for synaptophysin and myoglobin

“…In the fourth edition WHO classification, MMB is described as medulloblastoma with myogenic differentiation and is considered to be any variant of medulloblastoma because genetic changes in medulloblastoma with myogenic differentiation are similar to those in other medulloblastomas, suggesting that this is not a distinct entity. Prognosis in medulloblastoma with myogenic differentiation is poor according to the descriptions in published papers, 5,6 although there have been reports of survival up to 5 years or >10 years after presentation 6–8 …”