Neuropatología y Biología Molecular.póstershttps://repositorio.fleni.org.ar/xmlui/handle/123456789/5702026-04-05T19:31:07Z2026-04-05T19:31:07ZHyaline eosinophilic astrocytic inclusions in two children with drug-resistant epilepsy—Case reports and literature reviewMezmezian, Mónica BeatrizArakaki, NaomiYáñez, PaulinaArias Cebollada, EugeniaMuro, Valeria L.Sevlever, Gustavo Emiliohttps://repositorio.fleni.org.ar/xmlui/handle/123456789/11352024-06-19T18:06:03Z2023-09-13T00:00:00ZHyaline eosinophilic astrocytic inclusions in two children with drug-resistant epilepsy—Case reports and literature review
Mezmezian, Mónica Beatriz; Arakaki, Naomi; Yáñez, Paulina; Arias Cebollada, Eugenia; Muro, Valeria L.; Sevlever, Gustavo Emilio
Introduction: Hyaline eosinophilic astrocytic inclusion
(HEAI) is a rare histological finding in cases with drugresistant
epilepsy (DRE).
Objectives: To describe two cases of DRE with HEAI
and review the literature.
Patients and Methods: Case 1: A 5-year-old boy with a
history of DRE since 5 months of age and global developmental
delay, nonverbal (GDD, NV). MRI revealed signs
of polymicrogyria, involving the right frontal operculum
with an abnormal cortical folding and rotation pattern.
The genetic panel showed a variant of uncertain significance
in the SCL2A1 gene. Outcome: Engel IV-B. Case 2:
A 5-year-old boy with a history of DRE since 4 months of
age and GDD, NV. MRI showed abnormal cortical folding
and cortical thickening in the right frontal lobe.
Genetic testing demonstrated a variant of uncertain significance
in the ADAR gene. Outcome: Engel IV-A. Resection
of the lesion was performed in both patients.
Results: Both cases showed brightly eosinophilic structures
within the astrocytic cytoplasm in the gray matter and
FCD type 2A. The inclusions were negative with PAS and
Congo red. By immunohistochemistry, they were positive
for S100 and negative for vimentin, and GFAP. We also
analyzed the data of all the previously reported cases.
Conclusion: HEAI is a rare entity, with only 53 cases
reported, including our cases. Evaluating all the cases,
the average age at seizure onset of pediatric patients
(n = 48) was 7 months, without sex predilection. Seven
patients had Aicardi syndrome, and 23 patients presented
GDD. Seizures were observed in 47 patients. Outcome
Engel: I in 10 cases, II in 5, III in 9, and IV in 9. Most
cases involved the frontal lobe (n = 40). HEAIs were positive
for S100 in 21/25 (84%), filamin in 22/25 (88%),
GFAP in 3/32 cases (9%), vimentin in 1/16 (6%), and
PAS in 3/21 (14%). FCD was observed in 19/50 patients
(38%). The significance of HEAI is not clear. Genetic
studies of the surgical specimens will probably allow a
better comprehension of this entity.
2023-09-13T00:00:00ZAnalysis of the implementation of DNA methylation assay for routine CNS tumors diagnosisMezmezian, Mónica BeatrizArakaki, NaomiSevlever, Gustavo EmilioMartinetto, Horaciohttps://repositorio.fleni.org.ar/xmlui/handle/123456789/11342024-06-19T18:04:12Z2023-09-13T00:00:00ZAnalysis of the implementation of DNA methylation assay for routine CNS tumors diagnosis
Mezmezian, Mónica Beatriz; Arakaki, Naomi; Sevlever, Gustavo Emilio; Martinetto, Horacio
Introduction: In the last years, DNA methylation array
emerged as a new tool for CNS tumor diagnosis.
Objectives: To analyze the value of methylation assay for
routine CNS tumor diagnosis.
Patients and Methods: We performed methylation
array in 182 CNS tumors (100 gliomas (GL), 27 medulloblastomas
(MDB), 20 ependymomas (EP), 17 neuronal/
glioneuronal tumors (N/GNT), 5 meningiomas,
7 embryonal tumors (ET), and 6 sarcomas) from 2019
for subtyping GL, EP, MDB, meningiomas, and sarcomas,
defining the diagnosis in cases without precise
histological features or confirming the histological
diagnosis.
Results: Scores were >0.75 in 147 cases (81%). The histological
diagnosis was maintained and allowed subtyping
in 127 cases (70%) (77 GL, 27 MDB, 12 EP, etc.),
defined differential diagnoses in 16 cases (9%) (3 sarcomas,
5 ET, 3 EP, etc.), and changed the diagnosis in
4 cases (2%). Scores were ≤0.75 in 35 cases (19%),
however, in 7/14 adult diffuse GL, CNV analysis
(EGFR amplification, and Chr.10q and CDKN2A/B
deletions) led to the diagnosis of the cases as IDH-wt
glioblastomas based on the WHO classification. In
8/35 cases displaying scores ≤0.75, RNA and/or DNA
sequencing was performed and led to the diagnosis of
4 tumors (1 sarcoma, 2 DMG H3K27-altered, and
1 pilocytic astrocytoma). Thus, in 24 cases (13%) diagnosis
could not be achieved; among these cases, 10 were
N/GNT.
Conclusion: The methylation array is a valuable tool to
diagnose most CNS tumors because a single technique
offers both the diagnosis and molecular data, mainly for
adult diffuse GL, MDB, and EP. Nowadays, the main
limitations of the method are the high amount of DNA
necessary for performing the study, economic issues for
developing countries, and the absence in the classifier of
uncommon tumors, such as low-grade N/GNT, and some
of the new tumors of the 2021 WHO classification. The
growth of the case base will improve the identification
skills of the system, probably perfecting its diagnostic
capabilities.
2023-09-13T00:00:00ZAML-005: Primary Central Nervous System Myeloid Sarcoma Evolving from a Myeloid Neoplasm with Eosinophilia Associated with FIP1L1-PDGFRABarbona, María EmiliaFreue, JulianEnciso, ClaudioFernández, María MargaritaCastro, MartínArakaki, NaomiSevlever, Gustavo EmilioCampestri, Reinaldo Manuelhttps://repositorio.fleni.org.ar/xmlui/handle/123456789/5712023-02-09T00:16:01Z2020-09-01T00:00:00ZAML-005: Primary Central Nervous System Myeloid Sarcoma Evolving from a Myeloid Neoplasm with Eosinophilia Associated with FIP1L1-PDGFRA
Barbona, María Emilia; Freue, Julian; Enciso, Claudio; Fernández, María Margarita; Castro, Martín; Arakaki, Naomi; Sevlever, Gustavo Emilio; Campestri, Reinaldo Manuel
2020-09-01T00:00:00Z