Spinal intramedullary H3K27M mutant glioma with vertebral metastasis: a case report

Handis, Chafik; Tanrıkulu, Bahattin; Danyeli, Ayça Erşen; Özek, M. Memet

doi:10.1007/s00381-021-05119-6

Cited by 8 publications

(22 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This indicates that venous invasion may reflux into the Batson plexus of the spine. Metastatic glioma cells disseminate into the spinal fluid and enter the Batson plexus, which supplies the vertebrae with blood, thus facilitating the metastasis to the vertebrae ( 4 , 8 ).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pediatric H3K27M‑mutant diffuse midline glioma with vertebral metastasis: A case report and literature review

Ge,

Yang,

Wang

et al. 2023

Oncol Lett

View full text Add to dashboard Cite

H3K27M-mutant diffuse midline glioma (DMG) is a type of high-grade glial tumor, which occurs in the midline structure and develops mostly in children. Extraneural metastases (ENM) are exceedingly rare in patients with H3K27M-mutant DMG. A 9-year-old male patient presented with a headache, nausea and vomiting. Following magnetic resonance imaging and immunohistochemical molecular testing examination, the patient was diagnosed with H3K27M-mutant DMG and received chemoradiotherapy plus five cycles of chemotherapy with temozolomide intermittently as an adjuvant therapy. The treatment resulted in a slight reduction of the tumor volume. However, 2 months later, the patient was admitted to hospital with complaints of drooping of the mouth, and waist and back pain. Magnetic resonance imaging and positron-emission tomography-computed tomography revealed an unusual presentation with multiple vertebral metastases and craniospinal leptomeningeal dissemination. Following discussion between the members of a multidisciplinary medical team, the patient underwent one cycle of chemotherapy with cyclophosphamide, vincristine and cisplatin. However, the condition did not improve and the patient died 4 weeks after the diagnosis of ENM. The mechanisms underlying the development of these rare metastases remain unclear. The present case report provides insights into the clinical characteristics and potential metastasis mechanisms of this aggressive disease and may help to elucidate new pathways for the management of ENM.

show abstract

Section: Discussionmentioning

confidence: 99%

“…The patient died 2 weeks after the initial presentation. The second reported case of pediatric H3K27M-mutant DMG with this type of presentation involved a 16-year-old female patient who had multiple vertebral metastases within bony structures and craniospinal pial seedings ( 8 ). The patient died 5 months after the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Pediatric H3K27M‑mutant diffuse midline glioma with vertebral metastasis: A case report and literature review

Ge,

Yang,

Wang

et al. 2023

Oncol Lett

View full text Add to dashboard Cite

show abstract

“…One possible mechanism of metastases from IMSCTs to the vertebrae is the dissemination of cancer cells into the cerebrospinal fluid and subsequently the Batson’s plexus. [ 8 ] High-grade gliomas can also gain direct access to extra meningeal tissues through dural vessels or spread hematogenously after entering the bloodstream through the breakdown of the blood–brain barrier. [ 7 ] Metastasis can also occur iatrogenically due to hematogenous seeding during surgery.…”

Section: Discussionmentioning

confidence: 99%

Primary thoracic intramedullary spinal cord tumor with likely metastases of glial origin to the lumbosacral vertebrae: Illustrative case

Asante,

Lee,

Jenson

et al. 2023

Surgical Neurology International

View full text Add to dashboard Cite

Background: Metastasis of systemic neoplasms to the spine is common; however, the metastasis of primary spinal cord tumors to other regions in the body is an infrequent occurrence. A few case reports have described the metastasis of primary spinal cord tumors, and in most cases, patients were younger than 30 years of age. Case Description: We present an illustrative case of a 47-year-old female with metastatic lesions to the lumbosacral vertebrae years after the initial diagnosis of an intradural, intramedullary spinal cord tumor (IMSCT). Although the surgical biopsy of the IMSCT was nondiagnostic, the patient was not found to have a separate primary neoplastic source, and the specimens of the metastatic lesions from the lumbar vertebral body were of glial origin. Conclusion: Metastasis from primary IMSCTs is extremely rare. Distant vertebral body and intracranial metastasis are even rarer yet possible. The clinical course is highly aggressive and responds poorly to current standard treatment.

show abstract

“…Patients' ages were from 4 to 36 years with a median of 15.5 years (range 4–36) and were predominantly female patients ( n = 9, 75%). Primary DMGs were mostly in the brain ( n = 8, 66.7%) and, more rarely, in the spinal cord ( n = 4, 33.3%) (Megan et al, 2018 ; Stephens et al, 2019 ; Bhatt et al, 2020 ; Handis et al, 2021 ; Li et al, 2021 ; Mohiuddin et al, 2021 ; Al Sharie et al, 2022 ; Lazow et al, 2022 ; Silva et al, 2022 ). The extent of surgical resection was subtotal in four patients (33.3%) (Megan et al, 2018 ; Stephens et al, 2019 ; Mohiuddin et al, 2021 ).…”

Section: Literature Reviewmentioning

confidence: 99%

“…Large autopsy-based studies of DIPG have described leptomeningeal metastasis in 40% of cases, as well as diffuse spread to involve the thalamus, the cervical cord, and even the frontal lobe (Buczkowicz et al, 2014 ). To date, extra-neural metastases in patients with DMG, H3 K27-altered, have been reported in 12 cases (Megan et al, 2018 ; Stephens et al, 2019 ; Bhatt et al, 2020 ; Handis et al, 2021 ; Li et al, 2021 ; Mohiuddin et al, 2021 ; Al Sharie et al, 2022 ; Lazow et al, 2022 ; Silva et al, 2022 ; Aftahy et al, 2023 ). In this study, we report two cases of pediatric DMG with extra-neural metastasis carrying H3.3K27 mutation: one patient was found to have osseous and bone marrow metastases and the second one showed multiple bone lesions, multifocal chest and abdominal lymphadenopathy, and metastatic pleural effusion.…”

Section: Introductionmentioning

confidence: 99%

Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review

Martino

Picariello

Russo

et al. 2023

Front. Mol. Neurosci.

View full text Add to dashboard Cite

IntroductionPediatric diffuse midline gliomas (DMG), H3 K27- altered, are the most aggressive pediatric central nervous system (CNS) malignancies. Disease outcome is dismal with a median survival of less than one year. Extra-neural metastases are an unusual occurrence in DMG and have been rarely described.Methods and resultsHere, we report on two pediatric patients affected by DMG with extra-neural dissemination. Their clinical, imaging, and molecular characteristics are reported here. An 11-year-old male 5 months after the diagnosis of diffuse intrinsic pontine glioma (DIPG) developed metastatic osseous lesions confirmed with computed tomography (CT) guided biopsy of the left iliac bone. The patient died one month after the evidence of metastatic progression. Another 11-year-old female was diagnosed with a cerebellar H3K27- altered DMG. After six months, she developed diffuse sclerotic osseous lesions. A CT-guided biopsy of the right iliac bone was non-diagnostic. She further developed multifocal chest and abdominal lymphadenopathy and pleural effusions. Droplet digital polymerase chain reaction (ddPCR) on pleural effusion revealed the presence of H3.3A mutation (c.83A>T, p.K28M). The patient died 24 months after the diagnosis of DMG and 3 months after the evidence of metastatic pleural effusion.DiscussionExtra-neural metastasis of DMG is a rare event and no standard therapy exists. An accurate and early diagnosis is necessary in order to develop a personalized plan of treatment. Further research is needed to gain further insights into the molecular pathology of DMG, H3K27- altered and improve the quality of life and the final outcome of patients with this deadly disease.

show abstract

Spinal intramedullary H3K27M mutant glioma with vertebral metastasis: a case report

Cited by 8 publications

References 19 publications

Pediatric H3K27M‑mutant diffuse midline glioma with vertebral metastasis: A case report and literature review

Pediatric H3K27M‑mutant diffuse midline glioma with vertebral metastasis: A case report and literature review

Primary thoracic intramedullary spinal cord tumor with likely metastases of glial origin to the lumbosacral vertebrae: Illustrative case

Extra-neural metastases in pediatric diffuse midline gliomas, H3 K27-altered: presentation of two cases and literature review

Contact Info

Product

Resources

About