Inicijalno diseminovani pedijatrijski visokogradusni gliom srednje linije bez H3 K27M alteracije – prikaz bolesnika i pregled literature
Sažetak
Uvod. Pedijatrijski gliomi visokog gradusa (high-grade gliomas – HGG) čine izuzetno heterogenu grupu visoko agresivnih tumora mozga. Dok se leptomeningealna diseminacija obično opaža kod bolesnika tokom bolesti, slučajevi sa inicijalnom diseminacijom su retki. Prikaz bolesnika. Pririkazan je slučaj 12-godišnjeg dečaka sa dijagnozom inicijalno diseminovanog HGG srednje lokalizacije. Uprkos hirurškoj intervenciji i multidisciplinarnom pristupu lečenja koji je uključivao kraniospinalnu radioterapiju i hemioterapiju, bolesnik je doživeo brzo neurološko pogoršanje i progresiju bolesti i na kraju je podlegao bolesti 13 meseci nakon dijagnoze. Za razliku od velike većine sličnih pedijatrijskih slučajeva dokumentovanih u literaturi, naš bolesnik je pokazao odsustvo H3 K27M alteracije. Prema našim saznanjima, ovo je jedinstvena prezentacija HGG srednje lokalizacije sa leptomeningealnom kranijalnom i spinalnom diseminacijom pri postavljanju dijagnoze bez očekivanog molekularnog obrasca koji je tipično povezan s takvim slučajevima. Zaključak. Ovaj slučaj ističe da su ishodi preživljavanja pedijatrijskih bolesnika sa HGG, bez obzira da li su diseminovani ili ne, podjednako loši, uz odsustvo efikasnih terapijskih opcija. Takođe, ukazuje na veliki problem nepotpune molekularne karakterizacije ovih tumora. Ovi podaci dodatno naglašavaju hitnu potrebu sveobuhvatne molekularne analize ovih tumora širom sveta, u cilju unapređenja dijagnostike i razvoja personalizovanih terapijskih pristupa.
Reference
Ostrom QT, Price M, Neff C, Cioffi G, Waite KA, Kruchko C, et al. CBTRUS Statistical Report: Primary Brain and Other Cen-tral Nervous System Tumors Diagnosed in the United States in 2015-2019. Neuro Oncol 2022; 24(Suppl 5): v1–95.
Pollack IF, Agnihotri S, Broniscer A. Childhood brain tumors: current management, biological insights, and future directions. J NeurosurgPediatr 2019; 23(3): 261–73.
Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 2021; 23(8): 1231–51.
Louis DN, Giannini C, Capper D, Paulus W, Figarella-Branger D, Lopes MB, et al. cIMPACT-NOW update 2: diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant. Acta Neuropathol 2018; 135(4): 639–42.
Yang Y, Li G. Post-translational modifications of PRC2: signals directing its activity. Epigenetics Chromatin 2020; 13(1): 47.
Chatwin HV, Cruz Cruz J, Green AL. Pediatric high-grade glioma: moving toward subtype-specific multimodal therapy. FEBS J 2021; 288(21): 6127–41.
Crowell C, Mata-Mbemba D, Bennett J, Matheson K, Mackley M, Perreault S, et al. Systematic review of diffuse hemispheric gli-oma, H3 G34-mutant: Outcomes and associated clinical fac-tors. Neurooncol Adv 2022; 4(1): vdac133.
Mackay A, Burford A, Carvalho D, Izquierdo E, Fazal-Salom J, Taylor KR, et al. Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma. Cancer Cell 2017; 32: 520–37.e5.
Al Sharie S, Abu Laban D, Al-Hussaini M. Decoding Diffuse Midline Gliomas: A Comprehensive Review of Pathogen-esis, Diagnosis and Treatment. Cancers (Basel) 2023; 15(19): 4869.
Gururangan S, McLaughlin CA, Brashears J, Watral MA, Provenzale J, Coleman RE, et al. Incidence and patterns of neuraxis metastases in children with diffuse pontine glioma. J Neurooncol 2006; 77(2): 207–12.
Tarnaris A, Edwards RJ, Lowis SP, Pople IK. Atypical external hydrocephalus with visual failure due to occult leptomeningeal dissemination of a pontine glioma. Case report. J Neurosurg 2005; 102(2 Suppl): 224–7.
Kanai R, Tasaka M, Sejima H, Uchida N, Nakano A, Akiya-ma Y, et al. Brain stem glioblastoma with multiple large cyst formation and leptomeningeal dissemination in a 4-year-old girl. Brain Dev 2005; 27(1): 58–61.
Donahue B, Allen J, Siffert J, Rosovsky M, Pinto R. Patterns of recurrence in brain stem gliomas: evidence for craniospinal dissemination. Int J Radiat Oncol Biol Phys 1998; 40(3): 677–80.
Wagner S, Benesch M, Berthold F, Gnekow AK, Rutkowski S, Sträter R, et al. Secondary dissemination in children with high-grade malignant gliomas and diffuse intrinsic pontine gliomas. Br J Cancer 2006; 95(8): 991–7.
Sethi R, Allen J, Donahue B, Karajannis M, Gardner S, Wisoff J, et al. Prospective neuraxis MRI surveillance reveals a high risk of leptomeningeal dissemination in diffuse intrinsic pontine glioma. J Neurooncol 2011; 102(1): 121–7.
Benesch M, Wagner S, Berthold F, Wolff JE. Primary dissemina-tion of high-grade gliomas in children: experiences from four studies of the Pediatric Oncology and Hematology Society of the German Language Group (GPOH). J Neurooncol 2005; 72(2): 179–83.
Bhatt NS, Houser K, Belongia M, Ellison DW, Foy A, Jarzem-bowski J, et al. Diffuse Midline Glioma With Osseous Metas-tases at Diagnosis: A Case Report. J Pediatr Hematol Oncol 2020; 42(7): e673–6.
Lazow MA, Leach JL, Trout AT, Breneman JC, Fouladi M, Fuller C. Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations. J Pediatr Hematol Oncol 2022; 44(2): e597–604.
Stephens S, Tollesson G, Robertson T, Campbell R. Diffuse mid-line glioma metastasis to the peritoneal cavity via ventriculo-peritoneal shunt: Case report and review of literature. J Clin Neurosci 2019; 67: 288–93.
Lu VM, Brown DA, Daniels DJ. Rare Diffuse Intrinsic Pontine Glioma Metastasis Throughout the Brain and Spine. World Neurosurg 2020; 140: 301–2.
Mohiuddin S, Maraka S, Usman Baig M, Gupta S, Muzzafar T, Valyi-Nagy T, et al. Case series of diffuse extraneural metasta-sis in H3F3A mutant high-grade gliomas: Clinical, molecular phenotype and literature review. J Clin Neurosci 2021; 89: 405–11. Erratum in: J Clin Neurosci 2021; 93: 286.
Nazarian J, Mason GE, Ho CY, Panditharatna E, Kambhampati M, Vezina LG, et al. Histological and molecular analysis of a progressive diffuse intrinsic pontine glioma and synchronous metastatic lesions: a case report. Oncotarget 2016; 7(27): 42837–42.
Buczkowicz P, Bartels U, Bouffet E, Becher O, Hawkins C. His-topathological spectrum of paediatric diffuse intrinsic pontine glioma: diagnostic and therapeutic implications. Acta Neuro-pathol 2014; 128(4): 573–81.
Navarro RE, Golub D, Hill T, McQuinn MW, William C, Zagzag D, et al. Pediatric midline H3K27M-mutant tumor with disseminated leptomeningeal disease and glioneu-ronal features: case report and literature review. Childs Nerv Syst 2021; 37(7): 2347–56.
Pan Y, Long W, Liu Q. Current Advances and Future Per-spectives of Cerebrospinal Fluid Biopsy in Midline Brain Ma-lignancies. Curr Treat Options Oncol 2019; 20(12): 88.
Hoffman LM, DeWire M, Ryall S, Buczkowicz P, Leach J, Miles L, et al. Spatial genomic heterogeneity in diffuse intrin-sic pontine and midline high-grade glioma: implications for di-agnostic biopsy and targeted therapeutics. Acta Neuropathol Commun 2016; 4: 1. Erratum in: Acta Neuropathol Commun 2016; 4: 13.
Dyson K, Rivera-Zengotita M, Kresak J, Weaver K, Stover B, Fort J, et al. FGFR1 N546K and H3F3A K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers. Histopathology 2016; 69(4): 704–7.
Nambirajan A, Suri V, Kedia S, Goyal K, Malgulwar PB, Khanna G, et al. Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual mo-lecular profile and its therapeutic implications. Brain Tumor Pathol 2018; 35(3): 186–91.
Paul M, Crawford J, Elster J. HGG-08. Bone metastases in pediatric high-grade glioma: a case series and review of the literature. Neuro Oncol 2018; 20(Suppl 2): i90.
Handis C, Tanrıkulu B, Danyeli AE, Özek MM. Spinal in-tramedullary H3K27M mutant glioma with vertebral metasta-sis: a case report. Childs Nerv Syst 2021; 37(12): 3933–7.
Silva MA, Mirchia K, Chamyan G, Maher O, Wang S, Niazi T. Disseminated diffuse midline glioma associated with poorly differentiated orbital lesion and metastases in an 8-year-old girl: case report and literature review. Childs Nerv Syst 2022; 38(10): 2005–10.
Fomchenko EI, Erson-Omay EZ, Kundishora AJ, Hong CS, Daniel AA, Allocco A, et al. Genomic alterations underlying spinal metastases in pediatric H3K27M-mutant pineal paren-chymal tumor of intermediate differentiation: case report. J Neurosurg Pediatr 2019; 25(2): 121–30.
Song D, Xu D, Gao Q, Hu P, Guo F. Intracranial Metastases Originating From Pediatric Primary Spinal Cord Glioblastoma Multiforme: A Case Report and Literature Review. Front Oncol 2020; 10: 99.
Al Sharie S, Talafha M, Abu Laban D, Al Awabdeh T, Al-Mousa A, Al-Masri N, et al. H3 K27M-mutant diffuse mid-line glioma with osseous metastases: A case report and a litera-ture review. Clin Neuropathol 2022; 41(6): 263–70.
Gelder CL, Hawkins C, Zapotocky M, Dirks P, Bartels U, Bouffet E. Diffuse intrinsic pontine glioma ventricular peri-toneal shunt metastasis: a case report and literature review. Childs Nerv Syst 2019; 35(5): 861–4.
Kay MD, Pariury HE, Perry A, Winegar BA, Kuo PH. Extra-cranial Metastases From Glioblastoma With Primitive Neu-ronal Components on FDG PET/CT. Clin Nucl Med 2020; 45(3): e162–4.
Jethanandani A, Gule-Monroe MK, Chen M, Johnson JM. Ex-traneural Metastases From a High-Grade Glioma (HGG) With an H3F3A G34R Mutation. Front Oncol 2019; 9: 373.
Kinoshita T, Yano H, Nakayama N, Suzui N, Iida T, Endo S, et al. Pediatric Giant Cell Glioblastoma Presenting with Intra-cranial Dissemination at Diagnosis: A Case Report. NMC Case Rep J 2021; 8(1): 151–7.
Aghajan Y, Malicki DM, Levy ML, Crawford JR. Atypical ana-plastic astrocytoma with unique molecular features and diffuse leptomeningeal spread in a child with long-term survival. BMJ Case Rep 2019; 12(2): e228153.
Müller K, Schlamann A, Guckenberger M, Warmuth-Metz M, Glück A, Pietschmann S, et al. Craniospinal irradiation with concurrent temozolomide for primary metastatic pediatric high-grade or diffuse intrinsic pontine gliomas. A first report from the GPOH-HIT-HGG Study Group. Strahlenther Onkol 2014; 190(4): 377–81.
Müller K, Schlamann A, Seidel C, Warmuth-Metz M, Christian-sen H, Vordermark D, et al. Craniospinal irradiation with concurrent temozolomide and nimotuzumab in a child with primary metastatic diffuse intrinsic pontine glioma. A compassionate use treatment. Strahlenther Onkol 2013; 189(8): 693–6.