Pituitary stalk thickening: neoplastic or not? - author’s response to the letter by Wang et al.

Abstract Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a highly variable clinical presentation affecting people of all ages. Mutations in BRAF V600E are the most identifiable molecular alteration in LCH although its incidence in pediatric patients with isolated pituitary stalk involvement is not well described. Pediatric patients with LCH and isolated pituitary stalk involvement typically present with central diabetes insipidus. Diagnosis requires a transcranial biopsy which often yields scant tissue. We sought to determine the prevalence of BRAF V600E mutations in patients with isolated pituitary stalk LCH using digital droplet polymerase chain reaction because this method requires minimal tumor DNA. We identified 8 patients with isolated pituitary stalk thickening who underwent a biopsy at Children’s Hospital Colorado from January 2001 to December 2019, as well as 6 patients with systemic LCH diagnosed by biopsy in the same period as a comparison. Only one out of the 8 patients with isolated thickened pituitary stalk was found to have a detectable BRAF V600E mutation. Five out of the 6 patients with systemic LCH had a detectable BRAF V600E mutation. In our series, BRAF V600E mutations are rare in pediatric patients with LCH and isolated pituitary stalk involvement.

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Pituitary stalk thickening: use of an innovative MRI analysis to guide clinical management

Endocrine Abstracts ◽

10.1530/endoabs.44.p149 ◽

2016 ◽

Author(s):

Emilia Sbardella ◽

Robin N Joseph ◽

Bahram Jafar-Mohammadi ◽

Andrea M Isidori ◽

Simon Cudlip ◽

...

Keyword(s):

Clinical Management ◽

Pituitary Stalk ◽

Pituitary Stalk Thickening

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Central Diabetes Insipidus as the Inaugural Manifestation of Langerhans Cell Histiocytosis: Natural History and Medical Evaluation of 26 Children and Adolescents

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2011-0513 ◽

2011 ◽

Vol 96 (9) ◽

pp. E1352-E1360 ◽

Cited By ~ 35

Author(s):

Isis Marchand ◽

Mohamed Aziz Barkaoui ◽

Catherine Garel ◽

Michel Polak ◽

Jean Donadieu ◽

...

Keyword(s):

Diabetes Insipidus ◽

Langerhans Cell Histiocytosis ◽

Third Ventricle ◽

Langerhans Cell ◽

Central Diabetes Insipidus ◽

Pituitary Stalk ◽

The Third ◽

Mri Features ◽

Pituitary Stalk Thickening

Abstract Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions. Method: In 2010, the French national LCH registry had enrolled 1236 LCH patients under 18 yr of age. Isolated CDI was the initial presentation of LCH in 26 patients. We reviewed their clinical and magnetic resonance imaging (MRI) features. Results: Median age at the diagnosis of CDI was 9.6 yr (1.8–16.3), and median follow-up after CDI diagnosis was 9.9 yr (3.5–26.6). In addition to CDI, two patients had visual field defects, four had secondary amenorrhea, and 11 had anterior pituitary deficiency. Cerebral imaging (including computed tomography in two cases), performed in 22 patients within 3 months of CDI diagnosis, showed pituitary stalk thickening in 14 patients, which was moderate (3.0–7 mm) in nine cases and marked (>7 mm) in five cases. In eight cases, the lesion extended to the floor of the third ventricle. One child with LCH presented with a mild enlarged sellar content. During follow-up, 22 patients developed extrapituitary involvement, mainly of bone (n = 15), lung (n = 9), and skin (n = 9). Pituitary biopsy was performed in eight cases and was conclusive in six cases. Conclusions: Pituitary stalk thickening can be observed in LCH as well as lesions extending to the floor of the third ventricle. In all cases but one, the intrasellar content was not enlarged. Long-term follow-up with close attention to bone, skin, and lung disorders may lead to the diagnosis of LCH.

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