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Neuropathology : Official Journal of... Dec 2023Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive...
Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive low-grade neoplasms of the posterior pituitary gland. GCT usually present as a solid sellar mass, slowly growing and causing compressive symptoms over time, occasionally with suprasellar extension. They comprise polygonal monomorphous cells with abundant granular cytoplasm, which is ultrastructurally filled with lysosomes. Here we report the case of a GCT presenting as a third ventricle mass, radiologically mimicking chordoid glioma, with aberrant expression of GFAP and Annexin-A, which lends itself as an example of an integrated diagnostic approach to sellar/suprasellar and third ventricle masses.
Topics: Humans; Pituitary Gland, Posterior; Third Ventricle; Granular Cell Tumor; Cerebral Ventricle Neoplasms; Craniopharyngioma; Pituitary Neoplasms; Glioma
PubMed: 37147874
DOI: 10.1111/neup.12907 -
Laboratory Investigation; a Journal of... Aug 2023Central neurocytoma (CN) is a low-grade neuronal tumor that mainly arises from the lateral ventricle (LV). This tumor remains poorly understood in the sense that no...
Central neurocytoma (CN) is a low-grade neuronal tumor that mainly arises from the lateral ventricle (LV). This tumor remains poorly understood in the sense that no driver gene aberrations have been identified thus far. We investigated immunomarkers in fetal and adult brains and 45 supratentorial periventricular tumors to characterize the biomarkers, cell of origin, and tumorigenesis of CN. All CNs occurred in the LV. A minority involved the third ventricle, but none involved the fourth ventricle. As expected, next-generation sequencing performed using a brain-tumor-targeted gene panel in 7 CNs and whole exome sequencing in 5 CNs showed no driver mutations. Immunohistochemically, CNs were robustly positive for FGFR3 (100%), SSTR2 (92%), TTF-1 (Nkx2.1) (88%), GLUT-1 (84%), and L1CAM (76%), in addition to the well-known markers of CN, synaptophysin (100%) and NeuN (96%). TTF-1 was also positive in subependymal giant cell astrocytomas (100%, 5/5) and the pituicyte tumor family, including pituicytoma and spindle cell oncocytoma (100%, 5/5). Interestingly, 1 case of LV subependymoma (20%, 1/5) was positive for TTF-1, but all LV ependymomas were negative (0/5 positive). Because TTF-1-positive cells were detected in the medial ganglionic eminence around the foramen of Monro of the fetal brain and in the subventricular zone of the LV of the adult brain, CN may arise from subventricular TTF-1-positive cells undergoing neuronal differentiation. H3K27me3 loss was observed in all CNs and one case (20%) of LV subependymoma, suggesting that chromatin remodeling complexes or epigenetic alterations may be involved in the tumorigenesis of all CNs and some ST-subependymomas. Further studies are required to determine the exact tumorigenic mechanism of CN.
Topics: Humans; Neurocytoma; Histones; Glioma, Subependymal; Epigenesis, Genetic; Carcinogenesis
PubMed: 37088465
DOI: 10.1016/j.labinv.2023.100159 -
Neuro-oncology Aug 2023"Primary papillary epithelial tumor of the sella (PPETS)" is a recently described rare tumor entity of the central nervous system (CNS) with stereotypic location in the...
BACKGROUND
"Primary papillary epithelial tumor of the sella (PPETS)" is a recently described rare tumor entity of the central nervous system (CNS) with stereotypic location in the sella. Comprehensive molecular investigations and epigenetic profiles of PPETS have not been performed to date.
METHODS
We report a comprehensive clinical, histopathologic, and molecular assessment of 5 PPETS cases in comparison with a cohort composed of 7 choroid plexus papilloma (CPP), 7 central neurocytoma (CN), 15 posterior pituitary tumor (PPT) including 4 pituicytoma, 6 granular cell tumors of the sellar region (GCT), and 5 spindle cell oncocytoma.
RESULTS
All PPETS had good outcomes. Immunohistochemically, PPETS tumors showed positive staining with TTF1, EMA, AE1/AE3, MAP2, and Vimentin, but were negatively stained with Syn, GFAP, CgA, and S100, and sporadically stained with Ki-67. In unsupervised hierarchical clustering and t-distributed stochastic neighbor embedding analyses of DNA-methylation data, PPETS and PPT tumors formed a distinct cluster irrespective of their histologic types. However, PPETS tumors did not cluster together with CPP and CN samples. Similar findings were obtained when our samples were projected into the reference cohort of the brain tumor classifier. Substantial fractions of the PPETS and PPT tumors shared broadly similar chromosomal copy number alterations. No mutations were detected using targeted next-generation sequencing.
CONCLUSIONS
Though more cases are needed to further elucidate the molecular pathogenesis of these tumors, our findings indicate that PPETS and PPT tumors may constitute a single neurooncological entity.
Topics: Humans; Pituitary Neoplasms; Neoplasms, Glandular and Epithelial; Adenoma, Oxyphilic; DNA Methylation; Central Nervous System
PubMed: 37058118
DOI: 10.1093/neuonc/noad067 -
World Neurosurgery: X Jul 2023Pituicytoma (PTs) is a rare tumor of the sella and suprasellar region, derived from the pituicytes of the neurohypophysis, having distinct histological characteristics...
BACKGROUND
Pituicytoma (PTs) is a rare tumor of the sella and suprasellar region, derived from the pituicytes of the neurohypophysis, having distinct histological characteristics of glial neoplasms. We reported, the clinical data, neuroimaging studies, surgical approaches and pathology in five patients with PTs and also, we reviewed the literature.
METHODS
Retrospective chart from five consecutive patients with PTs treated at one University Hospital from 2016 to 2021 were reviewed. In addition, we conducted a search in PubMed/Medline databases using the term "Pituicytoma". Data regarding age, gender, pathological findings, and treatment modality applied were extracted.
RESULTS
All patients were female, aged 29-63, complaining of headaches, visual loss and field defects, dizziness and normal or abnormal levels of circulating pituitary hormones. Magnetic Resonance Imaging (MRI) showed in all patients a sellar and suprasellar mass, which was removed through an endoscopic transsphenoidal approach. Our third patient had a subtotal resection followed by close observation. Histopathology showed a glial non-infiltrative tumors with spindle cells, and a final diagnosis of pituicytoma was made. After surgery, visual field defects in all patients were normalized, and in two patients normal levels of plasma hormones were restored. After a mean of three years follow-up, the patients were managed post-operatively through close clinical observation and serial MRI. None of the patients had recurrence of the disease.
CONCLUSION
PTs is a rare glial tumor of the sellar and suprasellar region that arises from neurohypophyseal pituicytes. Disease control may be achieved by total excision.
PubMed: 37026087
DOI: 10.1016/j.wnsx.2023.100186 -
The Journal of Endocrinology Jun 2023'Pituitary tumours' is an umbrella term for various tumours originating from different regions of the hypothalamic-pituitary system. The vast majority of pituitary... (Review)
Review
'Pituitary tumours' is an umbrella term for various tumours originating from different regions of the hypothalamic-pituitary system. The vast majority of pituitary tumours are pituitary adenomas, also recently referred to as pituitary neuroendocrine tumours. The prevalence of clinically relevant pituitary adenomas is approximately 1 in 1000; other pituitary tumours such as craniopharyngioma and pituicytoma are comparatively very rare. This review addresses the molecular and genetic aspects of pituitary adenomas. We first discuss the germline genetic variants underlying familial pituitary tumours, which account for approximately 5% of all pituitary adenoma cases. This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SDHC, SDHD, SDHAF2) as well as emerging genetic associations. In addition, we discuss McCune-Albright syndrome which lies between the germline and somatic pituitary tumour genes as the causative GNAS mutations are postzygotic rather than being inherited, and the condition is associated with multiglandular features due to the involvement of different cell lines rather than being limited to the pituitary. By contrast, somatic GNAS mutations contribute to sporadic acromegaly. USP8 is the only other gene where somatic driver mutations have been established in sporadic pituitary tumorigenesis. However, there are now known to be a variety of other somatic genetic and molecular changes underpinning sporadic pituitary adenomas which we review here, namely: copy number variation, molecular changes in signalling and hypoxia pathways, epithelial-mesenchymal transition, DNA repair, senescence, the immune microenvironment and epigenetics.
Topics: Humans; Pituitary Neoplasms; DNA Copy Number Variations; Adenoma; Pituitary Gland; Mutation; Transcription Factors; Tumor Microenvironment
PubMed: 36951812
DOI: 10.1530/JOE-22-0291 -
Pathology Apr 2023
Topics: Humans; ACTH-Secreting Pituitary Adenoma; Pituitary ACTH Hypersecretion; Pituitary Neoplasms; Adenoma; Glioma
PubMed: 36351865
DOI: 10.1016/j.pathol.2022.08.005 -
Asian Journal of Surgery Mar 2023
Topics: Humans; Pituitary Neoplasms; Glioma; Magnetic Resonance Imaging
PubMed: 36180358
DOI: 10.1016/j.asjsur.2022.08.116 -
International Journal of Surgery Case... Sep 2022Pituicytomas are low-grade glial tumors in the sellar and suprasellar region. They may be easily confused with pituitary lesions. We review the literature in order to...
INTRODUCTION
Pituicytomas are low-grade glial tumors in the sellar and suprasellar region. They may be easily confused with pituitary lesions. We review the literature in order to better understand and categorize the natural history, clinical presentations, and treatments.
PRESENTATION OF CASE
A 45-year-old female patient who complained of left eye blurred vision for 2 months. The imaging study revealed a solid sellar tumor with marked homogeneous enhancement following intravenous administration of gadolinium, and compression of the optic chiasm. Thus, under the preoperative diagnosis of pituitary macroadenoma, the patient underwent endoscope-assisted surgery via the transsphenoidal approach. The patient recovered well after surgery. The histopathological diagnosis was pituicytoma, WHO grade I.
CLINICAL DISCUSSION
Pituicytomas are defined as a circumscribed low-grade glial tumor arising from the neurohypophysis or infundibulum with bipolar spindle cells arranged in a fascicular or storiform pattern (a cartwheel). The clinical symptoms are variable depending on the tumor size and location. They usually present due to mass effect. The radiographic characteristics are not nonspecific. The diagnosis of pituicytoma is based on histopathological evidence. Pituicytomas consist of a solid proliferation of elongated spindle cells arranged in interlacing fascicles and/or in a "storiform" pattern. In immunohistochemical studies, pituicytomas was strongly expressed in TTF-1.
CONCLUSION
Pituicytomas are benign, slow-growing glial tumors. It is difficult to diagnosed before operation as its clinical presentations and imaging studies resemble those of non-functional pituitary adenomas. The best chance of successful treatment is gross total resection by the endoscopic approach or transcranial approach.
PubMed: 36057248
DOI: 10.1016/j.ijscr.2022.107553 -
Diagnostic Cytopathology Jan 2023Pituicytoma is a rare neoplasm, arising in the posterior pituitary or in the hypophyseal stalk, and its cytological findings have not yet been well-described. We have...
Pituicytoma is a rare neoplasm, arising in the posterior pituitary or in the hypophyseal stalk, and its cytological findings have not yet been well-described. We have experienced a case of pituicytoma, which was difficult to diagnose intraoperatively, because of its cellular pleomorphism. A tumor measuring 18 mm in maximum diameter was found at the sella turcica in a Japanese woman in her forties. Both intraoperative crush cytology and histology of the resected tumor showed pleomorphic spindle or round cells, including multinucleated cells. Tumor cells were positive for TTF-1, S-100 protein, and vimentin, partially positive for glial fibrillary acidic protein and epithelial membrane antigen, and negative for synaptophysin, hormones of the anterior pituitary gland, CD34, Olig2, PAX8, and napsin A. Ki-67 labeling index was 2.0%. Tumors included in the differential diagnosis in general are pituitary adenoma, craniopharyngioma, germinoma, and metastatic tumor on the radiological standpoint, and pilocytic astrocytoma and meningioma on the cytological standpoint. However, our case was difficult to differentiate especially from high-grade glioma only by morphology, and immunohistochemistry including TTF-1 was helpful.
Topics: Humans; Pituitary Neoplasms
PubMed: 36040850
DOI: 10.1002/dc.25045 -
Journal of Clinical Medicine Aug 2022(1) Background: Pituicytomas are rare gliomas located in the neurohypophysis or infundibulum. A misdiagnosis of pituicytoma as pituitary adenoma is common because of...
(1) Background: Pituicytomas are rare gliomas located in the neurohypophysis or infundibulum. A misdiagnosis of pituicytoma as pituitary adenoma is common because of similar location and occasional endocrine disturbances. (2) Case presentation: We present two cases with the comorbidity of pituicytoma and Cushing's disease (CD). Case 1 is that of a 51-year-old woman, the first reported case of the comorbidity of pituicytoma, CD, and central diabetes insipidus. She received a diagnosis of CD and central diabetes insipidus. After transsphenoidal surgery, histopathology confirmed the diagnosis of pituicytoma and adrenocorticotropin-secreting microadenoma; case 2 is that of a 29-year-old man who received a biochemical diagnosis of CD, but he received a histopathological confirmation of only pituicytoma. Both patients achieved a remission of hypercortisolism without relapse during the follow-up, but they developed hypopituitarism after surgery. We also reviewed all published 18 cases with the comorbidity of pituicytoma and any pituitary adenoma. (3) Conclusions: Pituicytoma might present pituitary hyperfunction disorders such as CD or acromegaly, with or without pathologically confirmed pituitary adenoma. CD is the most common hyperpituitarism occurring concurrently with pituicytomas. The remission rate and hypopituitarism after surgery seem similar or slightly lower in CD than in common pituitary adenomas, but the long-term prognosis is unexplored.
PubMed: 36013043
DOI: 10.3390/jcm11164805