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The Rare Phenomenon of Loss of INI1 Expression at Recurrence/Progression of Primary Central Nervous System Tumors: Report of 3 Cases
- Source :
- International Journal of Surgical Pathology. 28:341-347
- Publication Year :
- 2019
- Publisher :
- SAGE Publications, 2019.
-
Abstract
- It is extremely rare for loss of immunohistochemical expression of INI1 to occur primarily at recurrence/progression with retained expression at the primary/initial presentation of central nervous system (CNS) tumor. In this article, we present 3 such cases showing loss of INI1 expression primarily at recurrence. All patients were males, aged 7 years (case 1), 11 years (case 2), and 35 years (case 3), diagnosed with low-grade glial/glioneuronal tumor, not otherwise specified (case 1), craniopharyngioma (case 2), and glioblastoma (case 3); all showed retained INI1 protein expression. Case 1 at 12 months recurrence showed a high-grade tumor with relative undifferentiated morphology, case 2 after 104 months showed a sarcomatous progression, and case 3 recurred after 4 months with the presence of relative undifferentiated round cells. All these recurrences showed loss of INI1 expression. Loss of SMARCB1/INI1 gene function resulting in complete loss of INI1 protein expression is not a well-accepted genetic mechanism for transformation/progression as this series emphasizes.
- Subjects :
- Adult
Male
Round cells
Pathology
medicine.medical_specialty
Central nervous system
Pathology and Forensic Medicine
Craniopharyngioma
03 medical and health sciences
Fatal Outcome
0302 clinical medicine
Glioneuronal tumor
Biomarkers, Tumor
Humans
Medicine
Pituitary Neoplasms
SMARCB1
Child
Brain Neoplasms
business.industry
Not Otherwise Specified
Glioma
SMARCB1 Protein
medicine.disease
medicine.anatomical_structure
030220 oncology & carcinogenesis
Disease Progression
Immunohistochemistry
Surgery
Neoplasm Recurrence, Local
Anatomy
business
030217 neurology & neurosurgery
Glioblastoma
Subjects
Details
- ISSN :
- 19402465 and 10668969
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- International Journal of Surgical Pathology
- Accession number :
- edsair.doi.dedup.....2b496a047d9ed5ec5ed2f26bd66c24e5