scholarly journals Comprehensive Genomic Characterization of A Case of Granular Cell Tumor of the Posterior Pituitary Gland: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Christopher S. Hong ◽  
Aladine A. Elsamadicy ◽  
Adeniyi Fisayo ◽  
Silvio E. Inzucchi ◽  
Pallavi P. Gopal ◽  
...  

Granular cell tumors of the pituitary belong to a rare family of neoplasms, arising from the posterior pituitary gland. Although considered benign, they may cause significant morbidity and residual disease after resection can lead to poor clinical outcomes. Currently, there is no known medical therapy for any posterior pituitary gland tumor, in part due to sparse molecular characterization of these lesions. We report data from whole exome sequencing of a case of granular cell tumor of the pituitary, performed under an institutional review board approved protocol. A 77 year-old female underwent resection of an incidentally diagnosed pituitary mass that was causing radiographic compression of the optic nerves with a subclinical temporal field defect and central hypothyroidism. The pathology of the resected specimen demonstrated a granular cell tumor of the posterior pituitary gland. Whole-exome sequencing revealed mutations predicted to be deleterious in key oncogenes, SETD2 and PAX8, both of which have been described in other cancers and could potentially be amenable to targeted therapies with existing approved drugs, including immune checkpoint inhibitors and histone deacetylase inhibitors, respectively. To our knowledge, this is the first comprehensive genomic characterization of granular cell tumor of the posterior pituitary gland. We report mutations in oncogenes predicted to be deleterious and reported in other cancers with potential for therapeutic targeting with existing pharmacologic agents. These data provide new insights into the molecular pathogenesis of GCT of the pituitary and may warrant further investigation.

Neurosurgery ◽  
1998 ◽  
Vol 42 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Bernhard Schaller ◽  
Eberhard Kirsch ◽  
Markus Tolnay ◽  
Thomas Mindermann

2008 ◽  
Vol 40 (3) ◽  
pp. 206-211 ◽  
Author(s):  
Toshitsugu Nakamura ◽  
Junko Hirato ◽  
Masao Hotchi ◽  
Kazuhiko Kyoshima ◽  
Yuichi Nakamura

Neurosurgery ◽  
1980 ◽  
Vol 6 (4) ◽  
pp. 418-421 ◽  
Author(s):  
Lawrence B. Schlachter ◽  
George T. Tindall ◽  
Gary S. Pearl

2021 ◽  
pp. mcs.a006120
Author(s):  
Christopher Hong ◽  
Mohammad Khan ◽  
Jordan Sukys ◽  
Manju Prasad ◽  
E. Zeynep Erson-Omay ◽  
...  

Glomangiopericytomas are rare, primary sinonasal tumors. The existing literature is mostly limited to reports describing the clinicopathologic characteristics of these tumors. Comprehensive genetic characterization of glomangiopericytomas remain lacking. Whole exome sequencing of a case of glomangiopericytoma was performed under an institutional review board approved protocol. A 69 year-old female underwent surgical resection of a glomangiopericytoma. Whole exome sequencing revealed somatic mutations in CTNNB1 and PIK3CA, the former previously associated with this pathology but the latter not described. Concurrent dysregulation of Wnt/beta-catenin and PI3K/AKT/mTOR signaling, secondary to mutations in these two oncogenes may be amenable to targeted treatment with existing clinically approved drugs. Genomic characterization of glomangiopericytomas remains lacking. This study reports novel co-existence of PIK3CA and CTNNB1 mutations in a case of glomangiopericytoma that may offer insight into the pathogenesis and potential for targeted medical therapies of this rare tumor.


1993 ◽  
Vol 6 (1) ◽  
pp. 63
Author(s):  
Shinichiro Yasumoto ◽  
Atsumichi Urabe ◽  
Akito Toshitani ◽  
Shuhei Imayama ◽  
Yoshiaki Hori

2015 ◽  
Vol 100 (1) ◽  
pp. E140-E147 ◽  
Author(s):  
Ender Karaca ◽  
Ramazan Buyukkaya ◽  
Davut Pehlivan ◽  
Wu-Lin Charng ◽  
Kursat O. Yaykasli ◽  
...  

Abstract Context: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. Objective: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk—characteristic clinical diagnostic findings of PSIS. Design and Participants: WES was applied to two affected and one unaffected siblings. Results: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein–coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. Conclusion: Mutations of GPR161 may be implicated as a potential novel cause of PSIS.


2020 ◽  
Vol 11 ◽  
pp. 101
Author(s):  
Akari Kusakawa ◽  
Akihiro Inoue ◽  
Yawara Nakamura ◽  
Naoya Nishida ◽  
Mana Fukushima ◽  
...  

Background: Granular cell tumor (GCT) of the sellar region is a rare tumor of the sellar and suprasellar regions that originate from the neurohypophysis. This tumor is very difficult to differentiate from other pituitary neoplasms, such as pituitary adenoma, pituicytoma, and spindle cell oncocytoma. We report a rare case of GCT arising from the posterior pituitary of the sellar region and suggest a useful indicator for accurate diagnosis and pitfalls for surgical procedures. Case Description: A 42-year-old woman was admitted to our hospital with bitemporal hemianopsia. Neuroimaging showed a large pituitary tumor in the sellar and suprasellar regions with a hypointense part on T2-weighted magnetic resonance imaging, and the enhanced anterior pituitary gland was displaced anteriorly. Laboratory findings showed mild hyperprolactinemia. Subtotal resection of the tumor was achieved using an endoscopic endonasal transsphenoidal approach. Histological findings showed round or polygonal cells with abundant granular eosinophilic cytoplasm staining strongly for thyroid transcription factor 1. The tumor was, therefore, diagnosed as a GCT of the sellar region, belonging to tumors of the posterior pituitary. After surgery, visual impairment and anterior pituitary function were improved. Follow-up neuroimaging after 1 year showed no signs of recurrence. Conclusion: GCT of the sellar region is difficult to diagnose on routine neuroimaging. Therefore, accurate diagnosis requires careful identification of clinical signs, magnetic resonance imaging including hypointensity on T2-weighted imaging, and analysis of combined morphological and immunohistochemical studies.


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