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Yudiyanta Yudiyanta, Yudiyanta
Department of Neurology, Sardjito Hospital, Yogyakarta

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PERAN PENANDA MOLEKULER PADA TERAPI GLIOMA Malueka, Rusdy Ghazali; Yudiyanta, Yudiyanta; Asmedi, Ahmad
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 35 No 1 (2018)
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v35i1.40

Abstract

   ROLE OF MOLLECULAR MARKER IN GLIOMA THERAPYABSTRACTGliomas are the most common primary Central Nervouus System (CNS) tumors in adults.  Nowdays, glioma classification has been changed from morphological based to molecular based classification. Isositrat dehydrogenase (IDH) muttion gene, chromosome 1p19q codeletion, O6-methylguanine-DNA-methyltransferase (MGMT) promoter methylation, epidermal growth factor receptor (EGFR) amplification, and vascular endothelial growth factor (VEGF) expression play important role in glioma management. These markers are important to be identified to help the diagnosis, determine the prognosis, predict the success of therapy, and develop targeted therapy and chemotherapy of glioma.IDH 1 and 2 gene mutation correlate with better outcome. 1p19q chromosome codeletion also a good prognosis indicator and strong predictor of chemosensitivity. MGMT gene expression level and methylation promoter gene status has a predictive value for glioblastoma patients who are treated with alkylation treatment, such as temozlamide. EGFR gene mutation correlates with aggressiveness and poor prognosis. VEGF over-expression is also comparable with the increasing stage of tumor. Clinical trial show promising therapeutic and safety for patients treated with anti-VEGF therapy, such as bevacizumab.Keywords: Chemotherapy, glioma, molecular marker, targeted therapyABSTRAKGlioma adalah tumor primer susunan saraf pusat (SSP) yang paling umum pada orang dewasa. Klasifikasi glioma saat ini beralih dari pedoman berbasis morfologi ke kriteria molekuler. Terdapat beberapa penanda (marker) molekuler yang berperan pada glioma, yaitu mutasi gen isositrat dehidrogenase (IDH), kodelesi kromosom 1p19q, metilasi promotor O6-metilguanin-DNA-metiltransferase (MGMT), amplifikasi epidermal growth factor receptor  (EGFR), serta ekspresi vascular endothelial growth factor (VEGF). Hal ini penting untuk diidentifikasi untuk membantu diagnosis, menentukan prognosis, memprediksi keberhasilan terapi, serta untuk pengembangan terapi target dan kemoterapi.Adanya mutasi pada gen IDH 1 dan 2 berkaitan dengan prognosis yang lebih baik. Demikian pula kodelesi kromosom 1p19q merupakan indikator prognosis yang baik dan prediktor kuat kemosensitivitas. Tingkat ekspresi dan status metilasi promotor gen MGMT memiliki nilai prediktif pada pasien glioblastoma yang diobati dengan obat alkilasi, seperti temozolomid. Mutasi gen EGFR berkaitan dengan agresivitas dan prognosis yang buruk. Demikian pula over- ekspresi VEGF pada glioma sebanding dengan peningkatan derajat tumor. Uji klinik menunjukkan manfaat terapeutik serta keamanan yang sangat menjanjikan bagi pasien dengan terapi anti-VEGF, seperti bevacizumab.Kata kunci: Glioma, kemoterapi, penanda molekuler, terapi target
TANTANGAN DIAGNOSTIK DAN PENATALAKSANAAN NEUROMYELITIS OPTIC SPECTRUM DISORDER: SEBUAH SERIAL KASUS Luthffia, Audiza; Asmedi, Ahmad; Harahap , Indra Sari Kusuma; Yudiyanta, Yudiyanta
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 41 No 2 (2025): Vol 41 No 2 (2025): Volume 41, No 2 - Maret 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v41i2.599

Abstract

Introduction: Neuromyelitis optic spectrum disease (NMOSD) is a rare inflammatory CNS disorder consisting of simultaneous optic neuritis and transverse myelitis. The diagnosis requires combinations of clinical characteristics, serologic testing of Aquaporin-4 (AQP4) antibody, and neuroimaging. Treatment includes steroids, plasma exchanges and immunosuppressants. Despite of treatment, NMOSD can lead to devastating sequelae and complications in unresponsive cases. Case Report: We report three cases of adult women with AQP4-antibody positive NMOSD. First case was referral from regional hospital with bilateral visual loss preceded by tetraparesis with relapse and remitting period since 4 years before admission. Second case was referral from regional hospital with persistent right eye visual loss 3 years before admission with acute left eye visual loss and paraparesis. Third case directly admitted to Dr. Sardjito Hospital with acute unilateral visual loss and tetraparesis. Plain head CT scan was performed in the first two cases with normal result and spinal cord MRI in all patients showed long extensive transverse myelitis. All patients received high dose IV Methylprednisolone with immunosuppressant either azathioprine or mycophenolic acid, and continued with plasma exchange for the first two patients. There was no significant improvement in all patients following therapy. Conclusion: All three cases had manifestations of optic neuritis and transverse myelitis, and two of them was referral from regional hospital. Limited access to AQP4-antibody testing and MRI remains a challenge in NMOSD diagnosis, which can lead to delayed in diagnosis. Clinician should suspect for NMOSD in the presence of optic neuritis and myelitis manifestations.