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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 -
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 -
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 -
Journal of Surgical Case Reports Jun 2020Pituicytoma is a rare tumor that has been recently recognized and described, where only few reported cases of pituicytoma associated with Cushing's disease. We describe...
Pituicytoma is a rare tumor that has been recently recognized and described, where only few reported cases of pituicytoma associated with Cushing's disease. We describe a case of a 47 years old female with a history of high cortisol levels and a diagnosis of Cushing's disease was made. Brain magnetic resonance imaging showed lesion in pituitary gland compatible with microadenoma and tumor resection was carried out. The histopathological findings were of a pituicytoma with positive thyroid transcription factor-1 immunostain.
PubMed: 32577204
DOI: 10.1093/jscr/rjaa104 -
Endocrine Regulations Oct 2019Pituicytomas are rare, solid, well-circumscribed, low grade (grade I), non-neuroendocrine, and noninfiltrative tumors of the neurohypophysis or infundibulum, which...
OBJECTIVES
Pituicytomas are rare, solid, well-circumscribed, low grade (grade I), non-neuroendocrine, and noninfiltrative tumors of the neurohypophysis or infundibulum, which appear in the sellar/suprasellar regions. Herein, we present a case with Cushing's disease (CD) caused by an ACTH-secreting pituitary adenoma in association with an infundibular pituicytoma. Subject and Results. A 37-year-old male patient presented to the hospital with a six-month history of blurry vision. Physical examination demonstrated plethora, excessive sweating, weight gain, moon facies, and acne. Basal serum cortisol and ACTH levels were 16 µg/dl and 32 pg/ml, respectively. The results of screening tests were suggestive of Cushing syndrome. It was also 1.97 µg/dl following 8 mg dexamethasone suppression test which was consistent with CD. Pituitary MR imaging revealed a single lesion measuring 6x6.5 mm on the pituitary stalk. Infundibular mass excision and pituitary exploration by extended endoscopic endonasal approach were applied. On immunohistochemistry, strong diffuse immunolabeling for both S100 and TTF-1 was noted for the cells of infundibular mass, diagnosed as pituicytoma. Because the developed panhypopituitarism postoperatively, patient was discharged with daily desmopressin, levothyroxine, hydrocortisone, and intramuscular testosterone, once a month.
CONCLUSIONS
Pituicytoma is an uncommon noninvasive tumor of the sellar and suprasellar regions. In this case report, we described a patient with Cushing's disease to whom MRI displayed only an infundibular well-circumscribed lesion, but not any pituitary adenoma. Despite the absence of any sellar lesion, awareness of other undetected possible lesion and exploring hypophysis during the transsphenoidal surgery is mandatory for the correct diagnosis.
Topics: ACTH-Secreting Pituitary Adenoma; Adenoma; Adrenocorticotropic Hormone; Adult; Humans; Male; Neoplasms, Multiple Primary; Pituitary ACTH Hypersecretion; Pituitary Gland; Pituitary Neoplasms
PubMed: 31734654
DOI: 10.2478/enr-2019-0026 -
Oncology Letters Jul 2018Pituicytomas are a rare form of indolent neoplasms, which typically present with visual disturbance and hypopituitarism. Complete resection by a trans-sphenoidal...
Pituicytomas are a rare form of indolent neoplasms, which typically present with visual disturbance and hypopituitarism. Complete resection by a trans-sphenoidal approach is the optimal treatment. Only 80 cases have been described thus far in the current literature and the present case is the first to describe the development of pituitary apoplexy in the context of a pituicytoma. A 77-year-old man presented with fatigue and clinical signs of hypogonadism and a sellar lesion was diagnosed at cerebral magnetic resonance imaging (MRI). A watch-and-wait management was initially decided and 1 year after the initial diagnosis, he presented with a thunderclap headache with images suggestive of pituitary apoplexy. A pituitary adenoma was suspected and an endoscopic resection was decided upon the development of a visual deficit. Pathological analysis established the correct diagnosis of a pituicytoma. Pituicytomas are characterised by dense vascularisation, thus ischaemic and haemorrhagic events may be common. When confronted with a hypervascularised pituitary lesion demonstrating strong contrast enhancement and no abnormal hormonal secretion, one must maintain a high index of suspicion for a pituicytoma. A wide range of differential diagnoses should thus be considered in the context of pituitary apoplexy.
PubMed: 29928451
DOI: 10.3892/ol.2018.8625 -
Journal of Radiology Case Reports May 2017Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We...
Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or choroid glioma because of the close association with the infundibulum and the homogeneous avid enhancement. Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles. Microscopic and immunohistochemical findings were consistent with hemangioblastoma. Hemangioblastomas are a rare form of vascular tumor most commonly associated with von-Hippel Lindau disease. Our finding of non-cystic hemangioblastoma arising from the infundibulum demonstrates that, while rare, hemangioblastomas should be considered on the differential diagnosis for an avidly enhancing suprasellar mass.
Topics: Adult; Endoscopy; Female; Hemangioblastoma; Humans; Magnetic Resonance Imaging; Pituitary Gland; Pituitary Neoplasms
PubMed: 29299088
DOI: 10.3941/jrcr.v11i5.2981