Spinal Diffuse Midline Glioma H3 K27M -Altered: Report of a Rare Tumor with Extracranial Skeletal Metastases and Review of Literature.

Autor:	Rathi A; Department of Pathology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Choudhari AK; Department of Radiology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Chatterjee A; Department of Nuclear Medicine, Tata Memorial Hospital, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Sahay A; Department of Pathology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Bhattacharya K; Department of Radiology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Sahu A; Department of Radiology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Puranik AD; Department of Nuclear Medicine, Tata Memorial Hospital, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Shah A; Department of Pathology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Dasgupta A; Department of Radiation Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Gupta T; Department of Radiation Oncology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India., Epari S; Department of Pathology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.
Jazyk:	angličtina
Zdroj:	International journal of surgical pathology [Int J Surg Pathol] 2024 Oct 08, pp. 10668969241286243. Date of Electronic Publication: 2024 Oct 08.
DOI:	10.1177/10668969241286243
Abstrakt:	Diffuse midline glioma, H3 K27 -altered is a rare and aggressive pediatric brain tumor with a grim prognosis. Diffuse midline glioma is characterized by specific molecular alterations, including H3 K27 mutations, and involves deep midline structures such as the brainstem, cerebellum, spinal cord, and thalamus. These tumors present with a classic triad of symptoms and have limited surgical options due to their challenging locations. Extra-neural metastases are an unusual occurrence in diffuse midline glioma and have been rarely described. Here we report a 17-year-old girl with spinal diffuse midline glioma, H3 K27M-mutant, who presented with multiple metastatic osseous lesions confirmed on biopsy of the thoracic vertebral lesion. Due to the rapid disease progression, the patient was recommended palliative therapy. Extra-neural metastases in diffuse midline glioma are rare, with only 16 reported patients, and no standard therapy exists. An accurate and early diagnosis is necessary to develop a personalized plan of treatment. Further research is needed to gain insights into the molecular pathology of diffuse midline glioma, H3 K27 -altered, and improve the quality of life and the outcome of patients with this deadly disease. Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. The authors also declare that there was no funding involved for this work.
Databáze:	MEDLINE
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