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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 -
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 -
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 -
Neurologia Medico-chirurgica Mar 2006Pituicytoma is a rare tumor in the sellar or suprasellar region with distinct histological characteristics of glial neoplasm. A 42-year-old woman presented with a...
Pituicytoma is a rare tumor in the sellar or suprasellar region with distinct histological characteristics of glial neoplasm. A 42-year-old woman presented with a history of amenorrhea and vertigo, and a 62-year-old woman presented with mild headache. Both patients had mild hyperprolactinemia and one had mild anterior pituitary dysfunction. They underwent transcranial partial resection of a suprasellar tumor. The tumors were characterized by storiform pattern of elongated cells immunoreactive for S-100 protein and glial fibrillary acidic protein. Ultrastructural study showed abundant cytoplasmic intermediate filaments and tumor/blood vessel basal lamina, but no desmosomes between tumor cells. The residual tumors showed no changes in size without adjuvant therapy at 56 and 18 months after surgery. Pituicytoma is a glial neoplasm of adults with low proliferative activity. Patients often present with visual symptoms or anterior pituitary dysfunction. Symptoms and signs of neurohypophysis are rare. Neuroimaging reveals an intra- or suprasellar mass with non-specific features. The prognosis and role of adjuvant therapy remain unclear for this discrete noninfiltrative glioma.
Topics: Adult; Female; Glioma; Humans; Middle Aged; Pituitary Neoplasms
PubMed: 16565586
DOI: 10.2176/nmc.46.152 -
Surgical Neurology International 2011Spindle cell oncocytoma (SCO) and pituicytoma are rare nonfunctioning tumors of the pituitary. Both tumors are low grade and macroscopically indistinguishable from a...
BACKGROUND
Spindle cell oncocytoma (SCO) and pituicytoma are rare nonfunctioning tumors of the pituitary. Both tumors are low grade and macroscopically indistinguishable from a nonfunctioning pituitary adenoma.We report one case of SCO and one case of pituicytoma and review the previous literature.
CASE DESCRIPTION
One patient was a 39-year-old man who presented with progressive headache, visual blurring, and polyuria of 3-year duration. He underwent partial resection (30% of the tumor) and postoperative adjuvant radiation therapy. Histopathology revealed SCO. However, after 9 months, the residual tumor grew and partial resection (70% of the tumor) was performed again. Four months after the second surgery, the tumor recurred again and he underwent transsphenoidal resection of the tumor with stable residual tumor to date. The other patient was a 59-year-old man who presented with a 3-month history of visual decline, fatigue, difficulty in writing, and polyuria. He underwent transsphenoidal resection (total) of the tumor. Histopathology revealed pituicytoma. He has been stable without evidence of recurrence for 1 year and 4 months.
CONCLUSION
To date, there are 15 reported cases of SCO and 45 reported cases of pituicytoma including our cases. An incomplete resection of the tumor was a significant risk factor for recurrence in both SCO and pituicytoma (P = 0.0014 and P = 0.019, respectively). These tumors have a tendency to be hypervascular, which may hamper total resection. Epithelial membrane antigen (EMA) and mitochondria positivity is characteristic to SCO and they are considered to be important immunomarkers to distinguish these tumors.
PubMed: 21886889
DOI: 10.4103/2152-7806.83932 -
Brain Pathology (Zurich, Switzerland) Sep 2013This article reviews recent literature on sellar region masses that most closely mimic nonsecretory pituitary adenomas: hypophysitis, pituicytoma, spindle cell... (Review)
Review
This article reviews recent literature on sellar region masses that most closely mimic nonsecretory pituitary adenomas: hypophysitis, pituicytoma, spindle cell oncocytoma, and granular cell tumor of neurohypophysis. Even today, these four entities often cannot be confidently distinguished from each other clinically or by preoperative neuroimaging features. Thus, they often come to biopsy/surgical resection and require tissue confirmation of diagnosis. Causes of secondary and primary hypophysitis will be discussed, including two newly described types, IgG4 plasma cell hypophysitis and hypophysitis caused by anti-cytotoxic T-lymphocyte antigen 4 antibody therapy for cancer. For the neoplastic conditions, emphasis will be placed on literature that has emerged since these entities were first codified in the 2007 World Health Organization fascicle. The finding that immunohistochemical staining for thyroid transcription factor-1 is shared by pituicytoma, spindle cell oncocytoma, and granular cell tumor of neurohypophysis suggests common lineage and explains why histological overlap can be encountered. We incorporate our own experiences over the last 30 years from two referral institutions with specialty practices in pituitary region masses.
Topics: Female; Humans; Middle Aged; Nuclear Proteins; Pituitary Diseases; Pituitary Neoplasms; Sella Turcica; Thyroid Nuclear Factor 1; Transcription Factors
PubMed: 23701182
DOI: 10.1111/bpa.12068 -
Archives of Pathology & Laboratory... Apr 2001Considered a neoplasm of pituicytes, pituicytoma is a rare and distinct type of glioma that arises in the suprasellar space and within the sella turcica. Only 12... (Review)
Review
Considered a neoplasm of pituicytes, pituicytoma is a rare and distinct type of glioma that arises in the suprasellar space and within the sella turcica. Only 12 previously reported cases of pituicytoma are documented in the literature. We report an intrasellar pituicytoma in a 66-year-old man presenting with symptoms and radiologic appearance indistinguishable from a nonfunctional pituitary adenoma. The patient also had a medical history significant for parathyroid adenomas and follicular carcinoma of the thyroid. The intrasellar tumor had morphologic features of a pituicytoma, with interlacing fascicles and a storiform pattern much like a benign fibrous histiocytoma. Immunoreactivity for S100 was strong, but the tumor lacked intercellular collagen type IV. The differential diagnosis of a low-grade spindle cell lesion of the sellar space is discussed, and the literature is reviewed. A summary of the clinical and pathologic features of this case, as well as the 12 previously reported cases, is presented.
Topics: Adenoma; Aged; Astrocytoma; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Multiple Endocrine Neoplasia; Pituitary Gland, Posterior; Pituitary Neoplasms; S100 Proteins; Sella Turcica
PubMed: 11260629
DOI: 10.5858/2001-125-0527-IPIAPW -
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