Rathke’s cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

Brinkmeier, Michelle L.; Bando, Hironori; Camarano, Adriana Carla; Shimizu, Fujio; Yoshimoto, Koji; Souza, Flávio Silva Junqueira de; Camper, Sally A.

doi:10.1172/jci136745

Cited by 12 publications

(8 citation statements)

References 103 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…29 This also explains the various results of different studies. Recently, Brinkmeier et al 30 showed that a specific transcription factor (Isl1) might be involved in the development of Rathke's cleft cysts, but not in craniopharyngioma.…”

Section: Petersson Et Almentioning

confidence: 99%

Natural history and surgical outcome of Rathke's cleft cysts—A study from the Swedish Pituitary Registry

Petersson

Berinder

Engström

et al. 2021

Clinical Endocrinology

View full text Add to dashboard Cite

ObjectiveRathke's cleft cysts are benign, embryological remnants in the pituitary gland. The majority of them are small and asymptomatic but a few may become large, and cause mass effects, pituitary hormone deficiencies and visual impairment. Recommendations for the follow‐up of Rathke's cleft cysts vary since data on the natural history are sparse.Patients and DesignData at diagnosis and at 1, 5 and 10 years for patients with a Rathke's cleft cyst (434 at diagnosis, 317 females) were retrieved from the Swedish Pituitary Registry. Cysts ≤3 mm in diameter were excluded from the study.MeasurementsData included demographics, cyst size, pituitary function, visual defects and surgery.ResultsThe mean age at diagnosis was 45 years. In patients with cysts <10 mm in diameter (n = 204) 2.9% had pituitary hormone deficiencies and 2% had visual field impairments. Cyst size did not progress during the 5 years. Cysts with a diameter of ≥10 mm that were not operated (n = 174) decreased in size over the years (p < .01). Pituitary hormone deficiencies and visual impairments were more frequent (18% and 5.7%, respectively) but were stable over time. Transphenoidal surgery was performed in 56 patients of whom 51 underwent surgery before the 1‐year follow‐up. The mean cyst diameter at diagnosis was 18 mm (range: 9─30 mm), 36% had pituitary hormone deficiency, 45% had visual field defects and 20% had impaired visual acuity. One year after surgery 60% had no cyst remnants, 50% had a pituitary deficiency, 26% had visual field defects and 12% had impaired visual acuity. No major changes were observed after 5 years. Twelve of the operated patients had a follow‐up at 10 years, in eight the cyst remnants or recurrences increased in size over time (p < .05).ConclusionsRathke's cleft cysts with a size less than 10 mm rarely grow and our results indicate that radiological follow‐up can be restricted to 5 years. In contrast, progression of postoperative remnants or recurrent cysts is more likely and require long‐term follow‐up.

show abstract

Section: Petersson Et Almentioning

confidence: 99%

Natural history and surgical outcome of Rathke's cleft cysts—A study from the Swedish Pituitary Registry

Petersson

Berinder

Engström

et al. 2021

Clinical Endocrinology

View full text Add to dashboard Cite

show abstract

“…RCCs arise as a result of improper involution of Rathke's pouch; however, the pathogenesis remains unclear [1,7]. Experimental studies indicate that defects in Isl1 transcription factor gene might be responsible for the development of RCC [8].…”

Section: Introductionmentioning

confidence: 99%

Presenting symptoms and endocrine dysfunction in Rathke cleft cysts — a two-centre experience

Dadej

Skraba

Matyjaszek‐Matuszek

et al. 2021

Endokrynologia Polska

View full text Add to dashboard Cite

Introduction: Rathke cleft cysts (RCC) arise as developmental abnormalities of the pituitary gland and are usually diagnosed incidentally. However, they may present with headaches, visual impairment, or pituitary dysfunction. Rathke cleft cysts are poorly described in the Polish literature. We aimed to characterize presenting symptoms, associated endocrine dysfunction, and concomitant disorders in the Polish population of patients with RCC. Material and methods: We performed a retrospective analysis of medical records of 102 patients diagnosed with RCC between 2006 and 2021 at Heliodor Swiecicki Clinical Hospital in Poznan and Independent Public Clinical Hospital No. 4 in Lublin. Results:The cohort was 72% female, with a mean age of 43 years. The median maximal cyst diameter was 7 mm. The majority of subjects were overweight or obese and presented lipid profile or glucose disturbances. Common presenting symptoms included headache, vertigo, and visual impairment. Less frequently we observed sexual dysfunction, irregular menses, galactorrhoea, or fatigue. Hormonal abnormalities were identified in 30% of patients, with hyperprolactinaemia being the commonest endocrinopathy (23%). Pituitary function in patients with RCC did not correlate with cyst size. Both concomitant pituitary adenomas and pineal cysts were diagnosed in 3% of patients. A considerable proportion of subjects were diagnosed with Hashimoto's thyroiditis and multinodular goitre. Conclusions: RCCs occur mostly in females and may result in a variety of symptoms and hormonal dysfunction. Patients require a full clinical and endocrine evaluation regardless of the cyst diameter. We report a substantial co-occurrence of RCC and metabolic disorders and primary thyroid diseases, which requires further investigation.

show abstract

“…To date, it is still unclear whether these cysts are incidental. However, a high rate of cystic lesions has been noted in autopsy cases (13–33%) ( 4 , 9 ). Cysts are hypothesized to arise from oral ectoderm cells of the pharyngeal duct that fail to degenerate.…”

Section: Introductionmentioning

confidence: 99%

“…Cysts are hypothesized to arise from oral ectoderm cells of the pharyngeal duct that fail to degenerate. This idea is supported by the ability of the oral epithelium or pharyngeal bursa to grow ( 4 , 10 ). RCC was observed in 1.2% of patients between the ages of 1 and 4 years ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

A Potential Concomitant Sellar Embryonic Remnant-Associated Collision Tumor: Systematic Review

Wang

Song

et al. 2021

Front. Oncol.

View full text Add to dashboard Cite

BackgroundDiagnosing the well-known concomitant Rathke’s cleft cyst (RCC) and differentiating it from other sellar lesions are difficult because RCC is and other sellar lesions are closely related and represent a continuum from simple RCCs to more complex lesions. The purpose of this study is to better understand the adeno- and neurohypophysis adjacent to the par intermedia remnants and their role in the origin of the coexistence of these two distinct tumor neoplasias; to assess the incidence in different age groups; to categorize the pathohistological subtype, which can be incorporated in predictive/prognostic models; and finally, to evaluate the current evidence on collision tumors of the sellar embryonic remnant tract in terms of their biological behavior and pathology.MethodsUtilizing the PubMed database, data were collected from 1920 to 2019. Information about demographics, clinical characteristics, and age was summarized and analyzed by using univariable and multivariable models. The same cell type was observed regardless of whether the tumor was only one type or mixed types, and their histologic patterns were assessed.ResultsThe incidence rates were similar among patients stratified into three age subgroups: 40–49 years (24.57%), 50–59 years (19.54%), and older than 60 years (22.98%). We found that various types of sellar lesions, namely, squamous metaplasia (SM) + goblet cells (GC) (HR 46.326), foamy macrophages (FM) (HR 39.625), epithelial cells and multinucleated giant cells or cholesterin (EM) (HR 13.195), a cavernous portion of the right internal carotid artery (CP-ICA) (HR 9.427), epithelial cells with ciliated cuboidal (EC-CC) (HR 8.456), were independently associated with RCC pathological status. These divergent AUCs (0.848 for Hypo as RCC, 0.981 for RCC co PA, 0.926 for CD and CP co RCC) and subtypes of PA (HR 4.415, HR 2.286), Hypo (HR 3.310), CD and CP (HR 2.467), EC and DC and PG and SGR (HR 1.068), coexisting with the risk of a comorbid RCC lesion, may reflect the etiologic heterogeneity of coderivation and the different effects of some risk factors on tumor subtypes. Our analyses suggested that the greatest accuracy was observed for the pituitary adenoma subtype, with an AUC of 0.981 (95% confidence interval [CI]: 0.959–1.005), while the poorest accuracy was observed for aneurysms, with an AUC of 0.531 (95% CI: 0.104–0.958). We separately analyzed and confirmed the above results. Sensitivity analysis revealed no evidence of systematic bias due to missing data.ConclusionThis study showed that the histopathological changes in patients with sellar embryonic remnant-associated collision tumors showed highly consistent epithelial cell replacement (renewal) (ciliated columnar epithelium to ciliated squamous epithelium to squamous epithelium) or accumulation, and the RCC cyst wall was similar in structure to the tracheobronchial airway epithelium, with progenitor cell characteristics. The collision accuracy between RCC and other tumors (PAs, craniopharyngioma, chordoma, etc.) is different; these characteristics constitute the theoretical basis for the postmigration development of the pharyngeal bursa.

show abstract

Rathke’s cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors

Cited by 12 publications

References 103 publications

Natural history and surgical outcome of Rathke's cleft cysts—A study from the Swedish Pituitary Registry

Natural history and surgical outcome of Rathke's cleft cysts—A study from the Swedish Pituitary Registry

Presenting symptoms and endocrine dysfunction in Rathke cleft cysts — a two-centre experience

A Potential Concomitant Sellar Embryonic Remnant-Associated Collision Tumor: Systematic Review

Contact Info

Product

Resources

About