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A case of molecularly profiled extraneural medulloblastoma metastases in a child.

ABSTRACT: BACKGROUND:Extraneural metastases are relatively rare manifestations of medulloblastoma. CASE PRESENTATION:We present the case of a young boy with group three MYCN-amplified medulloblastoma. He received multimodal chemotherapy consisting of gross total resection followed by postoperative craniospinal radiation and adjuvant chemotherapy. The patient developed extraneural metastases 4 months after the end of therapy. Literature review identifies the poor prognosis of MYCN-amplified medulloblastomas as well as extraneural metastases; we review the current limitations and future directions of medulloblastoma treatment options. CONCLUSION:To the best of our knowledge, this is the first molecularly characterized report of extraneural metastases of medulloblastoma in a child.

SUBMITTER: Mobark NA

PROVIDER: S-EPMC5772742 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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A case of molecularly profiled extraneural medulloblastoma metastases in a child.

Mobark Nahla Ali NA Al-Harbi Musa M Mosleh Othman O Santagata Sandro S Snuderl Matija M Abedalthagafi Malak M

BMC medical genetics 20180117 1

<h4>Background</h4>Extraneural metastases are relatively rare manifestations of medulloblastoma.<h4>Case presentation</h4>We present the case of a young boy with group three MYCN-amplified medulloblastoma. He received multimodal chemotherapy consisting of gross total resection followed by postoperative craniospinal radiation and adjuvant chemotherapy. The patient developed extraneural metastases 4 months after the end of therapy. Literature review identifies the poor prognosis of MYCN-amplified ...[more]

PMID: 29343221

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Project description:BackgroundExtraneural metastasis of glioma is a rare event, often occurring in patients with advanced disease. Genomic alterations associated with extraneural glioma metastasis remain incompletely understood.MethodsTen patients at Memorial Sloan Kettering Cancer Center diagnosed with extraneural metastases of glioblastoma (9 patients) and gliosarcoma (1 patient) from 2003 to 2018 were included in our analysis. Patient characteristics, clinical course, and genomic alterations were evaluated.ResultsPatient age at diagnosis ranged from 14 to 73, with 7 men and 3 women in this group. The median overall survival from initial diagnosis and from diagnosis of extraneural metastasis was 19.6 months (range 11.2 to 57.5 months) and 5 months (range 1 to 16.1 months), respectively. The most common site of extraneural metastasis was bone, with other sites being lymph nodes, dura, liver, lung, and soft tissues. All patients received surgical resection and radiation, and 9 patients received temozolomide, with subsequent chemotherapy appropriate for individual cases. 1 patient had an Ommaya and then ventriculoperitoneal shunt placed, and 1 patient underwent craniectomy for cerebral edema associated with a brain abscess at the initial site of resection. Genomic analysis of primary tumors and metastatic sites revealed shared and private mutations with a preponderance of tumor suppressor gene alterations, illustrating clonal evolution in extraneural metastases.ConclusionsSeveral risk factors emerged for extraneural metastasis of glioblastoma and gliosarcoma, including sarcomatous dedifferentiation, disruption of normal anatomic barriers during surgical resection, and tumor suppressor gene alterations. Next steps with this work include validation of these genomic markers of glioblastoma metastases in larger patient populations and the development of preclinical models. This work will lead to a better understanding of the molecular mechanisms of metastasis to develop targeted treatments for these patients.

Dataset Information

A case of molecularly profiled extraneural medulloblastoma metastases in a child.

Publications

A case of molecularly profiled extraneural medulloblastoma metastases in a child.

Similar Datasets

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