Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors
Introduction The updated 2016 classification of gliomas incorporates well-established molecular parameters into the classification of diffuse gliomas, taking into account isocitrate dehydrogenase 1 (IDH1) mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) loss, and 1p/19q co-deletio...
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2018-08-01
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| Series: | Indian Journal of Neurosurgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1668469 |
| _version_ | 1811324445165355008 |
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| author | Shameen Yumnam Devi Michelle De Padua Iravathy Goud Kalal |
| author_facet | Shameen Yumnam Devi Michelle De Padua Iravathy Goud Kalal |
| author_sort | Shameen Yumnam Devi |
| collection | DOAJ |
| description | Introduction The updated 2016 classification of gliomas incorporates well-established molecular parameters into the classification of diffuse gliomas, taking into account isocitrate dehydrogenase 1 (IDH1) mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) loss, and 1p/19q co-deletion.
Aim and Objectives To study IDH1 and ATRX mutations in gliomas, 1p/19q co-deletion by fluorescent in situ hybridization (FISH) in oligodendroglioma, and to correlate IDH1, ATRX, and 1p/19q with tumor type and grade.
Material and Methods Total 73 cases of gliomas were diagnosed on histology and graded as astrocytoma (grades 2–4), oligodendroglioma (grades 2–3), and oligoastrocytoma (grades 2–3) by two pathologists independently. IDH mutation and ATRX expression were analyzed using immunohistochemistry in all cases whereas 1p/19q co-deletion was studied using FISH in cases with oligodendroglioma and oligoastrocytoma morphology.
Results Total 48 cases of astrocytoma, 9 cases of oligoastrocytoma, and 16 cases of oligodendroglioma were included. The maximum number of IDH1 mutation cases were seen in diffuse astrocytoma (7/10; 70%) as compared with anaplastic astrocytoma (5/15; 33.33%), glioblastoma multiforme (GBM) (3/23; 13.04%) grade II oligoastrocytoma (3/6; 50%), anaplastic oligoastrocytoma (2/3; 66.67%), and oligodendroglioma grade II (7/10; 70%). ATRX loss was seen in diffuse astrocytoma grade II (6/10; 60%), anaplastic astrocytoma (6/15; 40%), oligoastrocytoma grade II (2/6; 33.33%), and anaplastic oligoastrocytoma (1/3; 33.33%). 1p/19q co-deletion was seen in oligoastrocytoma (2/2; 100%), anaplastic oligoastrocytoma (1/2; 50%), oligodendroglioma (3/4; 75%), and anaplastic oligodendroglioma (1/3; 33.33%). Six of the seven cases with 1p/19q co-deletion also showed IDH1 mutation. One of seven 1p/19q co-deleted cases had loss of expression of ATRX.
Conclusion Incorporation of IDH1 mutation, ATRX loss, and 1p/19q co-deletion molecular studies help in a more accurate diagnosis and classification of gliomas. |
| first_indexed | 2024-04-13T14:14:24Z |
| format | Article |
| id | doaj.art-9ea58b86ad454b1ea663f5b19162eb40 |
| institution | Directory Open Access Journal |
| issn | 2277-954X 2277-9167 |
| language | English |
| last_indexed | 2024-04-13T14:14:24Z |
| publishDate | 2018-08-01 |
| publisher | Thieme Medical Publishers, Inc. |
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| series | Indian Journal of Neurosurgery |
| spelling | doaj.art-9ea58b86ad454b1ea663f5b19162eb402022-12-22T02:43:42ZengThieme Medical Publishers, Inc.Indian Journal of Neurosurgery2277-954X2277-91672018-08-01070212913410.1055/s-0038-1668469Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain TumorsShameen Yumnam Devi0Michelle De Padua1Iravathy Goud Kalal2Department of Histopathology, Apollo Hospital, Hyderabad, Telangana, IndiaDepartment of Pathology, Apollo Hospitals, Hyderabad, Telangana, IndiaDivision of Human Genetics, Department of Molecular Biology and Cytogenetics, Apollo Hospitals, Hyderabad, Telangana, IndiaIntroduction The updated 2016 classification of gliomas incorporates well-established molecular parameters into the classification of diffuse gliomas, taking into account isocitrate dehydrogenase 1 (IDH1) mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) loss, and 1p/19q co-deletion. Aim and Objectives To study IDH1 and ATRX mutations in gliomas, 1p/19q co-deletion by fluorescent in situ hybridization (FISH) in oligodendroglioma, and to correlate IDH1, ATRX, and 1p/19q with tumor type and grade. Material and Methods Total 73 cases of gliomas were diagnosed on histology and graded as astrocytoma (grades 2–4), oligodendroglioma (grades 2–3), and oligoastrocytoma (grades 2–3) by two pathologists independently. IDH mutation and ATRX expression were analyzed using immunohistochemistry in all cases whereas 1p/19q co-deletion was studied using FISH in cases with oligodendroglioma and oligoastrocytoma morphology. Results Total 48 cases of astrocytoma, 9 cases of oligoastrocytoma, and 16 cases of oligodendroglioma were included. The maximum number of IDH1 mutation cases were seen in diffuse astrocytoma (7/10; 70%) as compared with anaplastic astrocytoma (5/15; 33.33%), glioblastoma multiforme (GBM) (3/23; 13.04%) grade II oligoastrocytoma (3/6; 50%), anaplastic oligoastrocytoma (2/3; 66.67%), and oligodendroglioma grade II (7/10; 70%). ATRX loss was seen in diffuse astrocytoma grade II (6/10; 60%), anaplastic astrocytoma (6/15; 40%), oligoastrocytoma grade II (2/6; 33.33%), and anaplastic oligoastrocytoma (1/3; 33.33%). 1p/19q co-deletion was seen in oligoastrocytoma (2/2; 100%), anaplastic oligoastrocytoma (1/2; 50%), oligodendroglioma (3/4; 75%), and anaplastic oligodendroglioma (1/3; 33.33%). Six of the seven cases with 1p/19q co-deletion also showed IDH1 mutation. One of seven 1p/19q co-deleted cases had loss of expression of ATRX. Conclusion Incorporation of IDH1 mutation, ATRX loss, and 1p/19q co-deletion molecular studies help in a more accurate diagnosis and classification of gliomas.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1668469atrx lossidh1 mutation1p/19q co-deletion |
| spellingShingle | Shameen Yumnam Devi Michelle De Padua Iravathy Goud Kalal Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors Indian Journal of Neurosurgery atrx loss idh1 mutation 1p/19q co-deletion |
| title | Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors |
| title_full | Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors |
| title_fullStr | Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors |
| title_full_unstemmed | Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors |
| title_short | Study of Histomolecular Classification of Glioma-Integrating Histology and Molecular Analysis in the Diagnosis of Brain Tumors |
| title_sort | study of histomolecular classification of glioma integrating histology and molecular analysis in the diagnosis of brain tumors |
| topic | atrx loss idh1 mutation 1p/19q co-deletion |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1668469 |
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