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Acta Neuropathologica Dec 2021Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to...
Pituicytoma (PITUI), granular cell tumor (GCT), and spindle cell oncocytoma (SCO) are rare tumors of the posterior pituitary. Histologically, they may be challenging to distinguish and have been proposed to represent a histological spectrum of a single entity. We performed targeted next-generation sequencing, DNA methylation profiling, and copy number analysis on 47 tumors (14 PITUI; 12 GCT; 21 SCO) to investigate molecular features and explore possibilities of clinically meaningful tumor subclassification. We detected two main epigenomic subgroups by unsupervised clustering of DNA methylation data, though the overall methylation differences were subtle. The largest group (n = 23) contained most PITUIs and a subset of SCOs and was enriched for pathogenic mutations within genes in the MAPK/PI3K pathways (12/17 [71%] of sequenced tumors: FGFR1 (3), HRAS (3), BRAF (2), NF1 (2), CBL (1), MAP2K2 (1), PTEN (1)) and two with accompanying TERT promoter mutation. The second group (n = 16) contained most GCTs and a subset of SCOs, all of which mostly lacked identifiable genetic drivers. Outcome analysis demonstrated that the presence of chromosomal imbalances was significantly associated with reduced progression-free survival especially within the combined PITUI and SCO group (p = 0.031). In summary, we observed only subtle DNA methylation differences between posterior pituitary tumors, indicating that these tumors may be best classified as subtypes of a single entity. Nevertheless, our data indicate differences in mutation patterns and clinical outcome. For a clinically meaningful subclassification, we propose a combined histo-molecular approach into three subtypes: one subtype is defined by granular cell histology, scarcity of identifiable oncogenic mutations, and favorable outcome. The other two subtypes have either SCO or PITUI histology but are segregated by chromosomal copy number profile into a favorable group (no copy number changes) and a less favorable group (copy number imbalances present). Both of the latter groups have recurrent MAPK/PI3K genetic alterations that represent potential therapeutic targets.
Topics: Adenoma, Oxyphilic; Epigenesis, Genetic; Granular Cell Tumor; Humans; Pituitary Neoplasms
PubMed: 34661724
DOI: 10.1007/s00401-021-02377-1 -
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 -
Brain Tumor Research and Treatment Oct 2021Pituicytoma is a rare solid benign tumor of the sellar and/or suprasellar region originating from the pituicytes of the neurohypophysis or infundibulum, which is not...
Pituicytoma is a rare solid benign tumor of the sellar and/or suprasellar region originating from the pituicytes of the neurohypophysis or infundibulum, which is not differentiated from a pituitary adenoma that is diagnosed mostly in the sellar and/or suprasellar region. In addition, cystic tumors are very rare and have not been reported due to their solid and hypervascular natures. A 33-year-old man presented with a chronic headache which exacerbated recently. MRI was performed and revealed a cystic tumor in the sellar and suprasellar regions with a small parenchymal island in the cyst compressing the optic chiasm. The endoscopic endonasal transsphenoidal approach was used to remove the tumor. Immunohistochemical staining was positive for thyroid transcription factor 1, S-100 protein, and glial fibrillary acidic protein. The pituicytoma was diagnosed based on histologic findings. The authors review herein the literature on clinical presentation, diagnosis, surgical management, and outcome.
PubMed: 34725987
DOI: 10.14791/btrt.2021.9.e11 -
Posterior pituitary tumours: patient outcomes and determinants of disease recurrence or persistence.Endocrine Connections Apr 2021Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor -1 (TTF-1) expression, according to the...
OBJECTIVE
Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor -1 (TTF-1) expression, according to the 2017 WHO classification. Though traditionally defined as low-grade neoplasms, a substantial proportion of them show recurrence/persistence following surgery.
METHODS
We selected patients with PPTs in our cohort of 1760 patients operated for pituitary tumours over the past 10 years (2010-2019). The clinical, radiological, hormonal, histopathological profiles and long-term outcomes of the three cases identified (two pituicytomas and one spindle cell oncocytoma, SCO) were analysed. Following a literature review, data of all published cases with documented TTF-1 positive pituicytomas and SCOs were analysed to determine the predictors of recurrence/persistence in these tumours.
RESULTS
Patients presented with compressive features or hypogonadism. Two had sellar-suprasellar masses. One had a purely suprasellar mass with a pre-operative radiological suspicion of pituicytoma. Two were operated by transsphenoidal surgery and one transcranially guided by neuronavigation. Histopathology confirmed spindle cells in a storiform arrangement and low Ki67 index. Immunohistochemistry showed positive TTF-1, S-100 expression and variable positivity for EMA, vimentin and GFAP. Re-evaluation showed recurrence/persistence in two patients. A literature review of recurrent/persistent pituicytoma (n = 17) and SCO (n = 9) cases revealed clinical clues (headache for pituicytomas, male gender for SCO), baseline tumour size (≥20.5 mm with sensitivity exceeding 80%) and longer follow-up duration as determinants of recurrence/persistence.
CONCLUSION
PPTs are rare sellar masses with quintessential TTF-1 positivity. Recurrent/persistent disease following surgery is determined by greater tumour size at baseline and duration of follow-up. This warrants intensive and long-term surveillance in these patients.
PubMed: 33709954
DOI: 10.1530/EC-20-0621 -
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 -
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 -
Polish Archives of Internal Medicine Dec 2023
Topics: Humans; Neuroendocrine Tumors; Pituitary Neoplasms; Magnetic Resonance Imaging; Growth Hormone
PubMed: 37943187
DOI: 10.20452/pamw.16599 -
Surgical Neurology International 2023Pituicytomas are rare tumors of the pituitary gland derived from the ependymal cells and line the pituitary stalk and posterior lobe. These tumors are located in the...
BACKGROUND
Pituicytomas are rare tumors of the pituitary gland derived from the ependymal cells and line the pituitary stalk and posterior lobe. These tumors are located in the vulnerable regions of the brain: Either in the sellar or suprasellar area. The location marks the difference in the clinical features of the tumor. Here, we report a case of histopathologically diagnosed pituicytoma of the sellar region. Literature is also reviewed and discussed to gain a better understanding of this rare disease.
CASE DESCRIPTION
A 24-year-old female presented to the outpatient department with complaints of headache, diplopia, dizziness, and decreased vision in the right eye for 6 months. Computed tomography scan brain without contrast showed a well-defined hyperdense lesion in the sella without associated bony erosion. Her magnetic resonance imaging showed well defined rounded lesion in the pituitary fossa which was isointense on T1-weighted image and hyperintense on T2-weighted images. A presumptive diagnosis of pituitary adenoma was made. She underwent endoscopic endonasal transsphenoidal resection of pituitary mass. Intraoperatively, normal pituitary gland was visualized and there was a grayish-green-colored, jelly like tumor which was pulled gently. On 9 postoperative day, she presented with cerebrospinal fluid (CSF) rhinorrhea. She underwent endoscopic CSF leak repair. Her histopathology was concluded to be Pituicytoma.
CONCLUSION
Pituicytoma is an uncommon diagnosis. The surgical aim is to completely excise the tumor which results in complete cure, but incomplete resection may be performed due to high vascularity of this tumor. In case of incomplete excision, recurrence is common and adjuvant radiotherapy may be administered.
PubMed: 37404513
DOI: 10.25259/SNI_248_2023 -
Medicine Nov 2019Pituicytomas are exceptional rare tumors in the sellar and suprasellar regions with clinical manifestations, such as headache, visual disturbance, hypopituitarism, and... (Review)
Review
RATIONALE
Pituicytomas are exceptional rare tumors in the sellar and suprasellar regions with clinical manifestations, such as headache, visual disturbance, hypopituitarism, and decreased libido. Unlike that of common pituitary adenoma, the association between pituicytoma and Cushing disease (CD) is extremely rare. There were only 6 reported cases till now. In the current study, we describe an unusual case of pituicytoma associated with severe CD with a recurrence-free follow-up period of 49 months.
PATIENT CONCERNS
A 32-year-old woman was referred to our hospital with moon face, central obesity, and purple stripes on the lower limbs.
DIAGNOSES
The plasma cortisol level was 1122 nmol/L. The low-dose dexamethasone suppression test failed to suppress plasma cortisol. This test provided evidence of nonpituitary-dependent CD. However, magnetic resonance imaging demonstrated a sellar mass measuring approximately 7.6 × 5.7 mm. The patient was diagnosed with pituitary microadenoma. Histopathological analysis of the tissue sections based on the findings from the immunohistochemical staining diagnosed it as pituicytoma.
INTERVENTIONS
Transsphenoidal surgery was performed to remove the pituitary mass.
OUTCOMES
Within 2 months postoperatively, the patient's blood pressure and cortisol level decreased gradually and normalized on the 6th month when other symptoms of CD also disappeared. The patient is presently free from recurrence 49 months after the initial diagnosis.
LESSONS
Based on the postoperative remission, CD was caused by pituitary disorders. A reasonable assumption is that an extremely small coexisting adenoma was not detected by the surgeon and washed out during the dissection. Another possible explanation might be the mass effect caused by this intrasellar lesion.
Topics: Adenoma; Adult; Female; Humans; Pituitary ACTH Hypersecretion; Pituitary Neoplasms
PubMed: 31689841
DOI: 10.1097/MD.0000000000017772 -
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