scholarly journals Isolated Langerhans cell histiocytosis in the hypothalamic-pituitary region: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Weibin Zhou ◽  
Jia Rao ◽  
Chengjiang Li
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Clinical Symptoms ◽  
Elevated Serum ◽  
Urine Osmolality ◽  
Langerhans Cell ◽  
Lymphocytic Hypophysitis ◽  
Pituitary Stalk ◽  
High Signal ◽  
Cns Disorders ◽  
Hormonal Evaluation

Abstract Background Langerhans cell histiocytosis (LCH) is a rare disease that mainly affects children, but this disease is significantly rarer in patients who are older than 15 years. In this disease, any organ can be involved. The skeleton, skin and lung are commonly affected, and isolated hypothalamic-pituitary (HP) involvement is relatively rare. Here we report a 17-year-old adolescent with isolated HP-LCH of enlarged pituitary stalk presented with central diabetes insipidus (CDI). Case presentation A 17-year-old male adolescent with polydipsia and polyuria accompanied with elevated serum sodium level and low urine osmolality for 3 weeks was referred to our hospital. After admission, hormonal evaluation showed that his growth hormone (GH) was slightly elevated, and serum osmolality and glucose were normal. The fluid deprivation-vasopressin test demonstrated CDI. Imaging examination showed an obvious thickening of the pituitary stalk. Lymphocytic hypophysitis, sarcoidosis and granulation tissue lesions were suspected. After oral 1-deamino-8-Darginine vasopressin (DDAVP) and prednisone were administered for 2 months, symptoms were relieved, and he discontinued taking the drugs by himself. On reexamination, imaging revealed changes in the size and shape of the pituitary stalk, with thickened nodules. Then, a diagnostic biopsy of the pituitary stalk lesion was performed. Immunohistochemistry confirmed the definitive diagnosis of LCH. The clinical symptoms subsided with oral hormone replacements. Conclusion CDI is a rare symptom in children and adolescents. Most of the causes are idiopathic, while others are caused by central nervous system (CNS) disorders. Meanwhile, lymphocytic hypophysitis, germinoma, LCH and other CNS disorders can all present as thickening of the pituitary stalk, diffuse enlargement of the pituitary gland, and weakening of high signal intensity in the neurohypophysis on magnetic resonance imaging (MRI). The differential diagnosis among these diseases depends on immunohistochemistry evidence.

scholarly journals SUN-278 Isolated Hypothalamic Langerhans Cell Histiocytosis in an Adult Manifesting as Panhypopituitarism

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alexandra Mikhael ◽  
Nitesh Gautam ◽  
Lauren Anne Buehler ◽  
Mario Skugor
Keyword(s):  
Bone Marrow ◽  
Langerhans Cell Histiocytosis ◽  
Elevated Serum ◽  
Braf Inhibitor ◽  
Urine Osmolality ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Laboratory Evaluation ◽  
Total Testosterone ◽  
Free T4

Abstract Background: Langerhans Cell Histiocytosis (LCH) is a rare disease characterized by abnormal proliferation of bone marrow derived histiocytes. Although predominantly a childhood disease, LCH can occur at any age and has an incidence of one to two cases per million in adults. LCH can involve a single organ or present as disseminated disease. Sites most commonly affected are bone, skin, bone marrow and pituitary. Isolated hypothalamic LCH is a rare entity. A few reports of LCH presenting as a hypothalamic mass exist but mainly in children. Treatment of adult LCH is derived from pediatric studies, and no standard of care exists. We report a unique case of an adult with panhypopituitarism secondary to a hypothalamic mass found to be biopsy proven isolated LCH treated with Vemurafenib, a BRAF V600E inhibitor. Clinical Case: A 66-year-old previously healthy man presented with progressively increasing confusion, cognitive decline and generalized weakness requiring hospital admission. Laboratory evaluation revealed an 8AM cortisol of 2.5 ug/dL (reference [ref] 7.0–25.0 ug/dL), ACTH of 9.3 pg/mL (ref 8–42 pg/mL), TSH of 0.106 uIU/mL (ref 0.35–5.5 uIU/mL), free T4 of 0.67 ug/dL (ref 0.7–1.25 ng/dL), LH <0.2 IU/L (ref 0.5–11 IU/L), FSH 0.6 IU/mL (ref 1–12 IU/L), total testosterone <12 ng/dL (ref 193 - 824 ng/dL), free testosterone <3.3 pg mL (ref 41.7 - 180.2 pg/mL), IGF1 41 ng/mL (ref 33–220 ng/mL) and prolactin of 31.5 ng/mL (ref 3.5–15 ng/mL). Findings were consistent with panhypopituitarism, and he was started on glucocorticoid and levothyroxine replacement therapy. MRI pituitary revealed an 18.1 x 13.8 x 15.8 mm hypothalamic mass with signal intensity alteration in the optic pathway. Patient developed polyuria with a serum sodium of 148 mmol/L (ref 136–145 mmol/L), elevated serum osmolality and low urine osmolality consistent with central DI and was started on oral DDAVP. The patient underwent right sided neuroendoscopic intraventricular biopsy of hypothalamic mass. Pathology was consistent with LCH with immunohistochemistry staining for CD1a, Langerin and BRAFV600E, with occasional cells staining for CD68, CD163 and S100. Bone marrow biopsy was normal. A NM PET scan revealed a hypermetabolic hypothalamic mass compatible with LCH without evidence of involvement of other sites including the skeletal system. Given histopathologically confirmed BRAF-mutated LCH, treatment with Vemurafenib was initiated. Behavioral changes gradually improved, and repeat MRI brain three months after treatment revealed decrease in size of hypothalamic mass. Conclusion: Isolated hypothalamic LCH is exceedingly rare. No clear guidelines exist for treatment of LCH in adults. BRAFV600E mutations are found in more than fifty percent of LCH cases and are associated with worse outcomes. This case demonstrates the successful use of targeted BRAF inhibitor therapy in an adult patient with BRAF mutated hypothalamic LCH.

scholarly journals Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Michael S. Gordon ◽  
Murray B. Gordon
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Hypogonadotropic Hypogonadism ◽  
Langerhans Cell ◽  
Pituitary Stalk ◽  
Bright Spot ◽  
Molecular Testing ◽  
Papillary Thyroid

Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I131therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto’s thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH.

Gagel's granuloma (localized Langerhans cell histiocytosis) in the pituitary stalk

1995 ◽  
Vol 97 (2) ◽  
pp. 164-166 ◽  
Author(s):  
Martin Scholz ◽  
Raimund Firsching ◽  
Wolfgang Feiden ◽  
Helmut Breining ◽  
Dirk Brechtelsbauer ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Pituitary Stalk

Central diabetes insipidus as a very late relapse limited to the pituitary stalk in Langerhans cell histiocytosis

2016 ◽  
Vol 29 (7) ◽  
Author(s):  
Shunsuke Nakagawa ◽  
Yuichi Shinkoda ◽  
Daisuke Hazeki ◽  
Mari Imamura ◽  
Yasuhiro Okamoto ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Late Relapse ◽  
Pituitary Hormone ◽  
Anterior Pituitary Hormone ◽  
The Central Nervous System

AbstractCentral diabetes insipidus (CDI) and relapse are frequently seen in multifocal Langerhans cell histiocytosis (LCH). We present two females with multifocal LCH who developed CDI 9 and 5 years after the initial diagnosis, respectively, as a relapse limited to the pituitary stalk. Combination chemotherapy with cytarabine reduced the mass in the pituitary stalk. Although CDI did not improve, there has been no anterior pituitary hormone deficiency (APHD), neurodegenerative disease in the central nervous system (ND-CNS) or additional relapse for 2 years after therapy. It was difficult to predict the development of CDI in these cases. CDI might develop very late in patients with multifocal LCH, and therefore strict follow-up is necessary, especially with regard to symptoms of CDI such as polydipsia and polyuria. For new-onset CDI with LCH, chemotherapy with cytarabine might be useful for preventing APHD and ND-CNS.

scholarly journals ddPCR Analysis Reveals BRAF V600E Mutations Are Infrequent in Isolated Pituitary Langerhans Cell Histiocytosis Patients

2020 ◽  
Vol 79 (12) ◽  
pp. 1313-1319
Author(s):  
Anandani Nellan ◽  
Avery Bodlak ◽  
David M Mirsky ◽  
Jean Mulcahy Levy ◽  
Timothy P Garrington ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Pediatric Patients ◽  
Braf V600e Mutation ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Pituitary Stalk ◽  
Molecular Alteration ◽  
Polymerase Chain ◽  
Myeloid Neoplasia ◽  
Pituitary Stalk Thickening

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.

Recurrent Langerhans cell histiocytosis at the site of prior craniotomy: case report

2019 ◽  
Vol 24 (6) ◽  
pp. 728-732
Author(s):  
M. Omar Iqbal ◽  
Ashirwad Merve ◽  
Nathalie Galea ◽  
Kristian Aquilina
Keyword(s):  
Soft Tissue ◽  
Langerhans Cell Histiocytosis ◽  
Systemic Chemotherapy ◽  
De Novo ◽  
Malignant Neoplasm ◽  
Inflammatory Lesion ◽  
Tissue Growth ◽  
Langerhans Cell ◽  
Burr Hole ◽  
Pituitary Stalk

Tumors of the CNS represent the largest group of solid tumors found in the pediatric patient population. Langerhans cell histiocytosis (LCH) is an inflammatory lesion that may present in bone and/or soft tissue, including the CNS. Management depends on the extent of multisystem involvement, which determines resection with or without systemic chemotherapy. The authors report on the case of a child who underwent an open craniotomy for biopsy of a pituitary stalk lesion followed by neuropathological assessment, procedures used to diagnose LCH. The patient then underwent 12 months of systemic chemotherapy with subsequent resolution of the pituitary stalk lesion. Two years following pathological diagnosis, the patient presented with frontal orbital pain at the site of the prior craniotomy. Advanced imaging revealed MRI enhancement and radiotracer uptake of a soft-tissue growth at the frontal burr-hole site and MRI enhancement at a posterior burr-hole site without soft-tissue growth. The patient then underwent open biopsy and curettage that revealed LCH recurrence at the site of prior craniotomy. This case demonstrates that LCH may represent an abnormal reactive clonal proliferation of dendritic cells, rather than a de novo malignant neoplasm that can occur at sites of prior craniotomy despite systemic chemotherapy. The authors advocate close follow-up with contrast-enhanced imaging. Special attention should be given to sites of prior surgical manipulation to avoid missing distant sites of recurrence.

Feline Pulmonary Langerhans Cell Histiocytosis with Multiorgan Involvement

2008 ◽  
Vol 45 (6) ◽  
pp. 816-824 ◽  
Author(s):  
M. D. M. Busch ◽  
C. M. Reilly ◽  
J. A. Luff ◽  
P. F. Moore
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Clinical Symptoms ◽  
Neoplastic Cell ◽  
Langerhans Cell ◽  
Mesenteric Lymph Nodes ◽  
Internal Organs ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Transmission Electron ◽  
Pulmonary Masses ◽  
E Cadherin

Histiocytic proliferative diseases are uncommon in cats, although recently a progressive histiocytosis of the skin with terminal involvement of internal organs has been described in cats. Here we describe 3 cats (2 males and 1 female) with pulmonary Langerhans cell histiocytosis (PLCH). The cats were euthanized due to progressive respiratory clinical symptoms and deterioration. Macroscopically, extensive, multifocal to confluent, pulmonary masses were evident. Infiltration of pancreas (2 cats), kidneys (1 cat), liver (1 cat), as well as tracheobronchial, hepatosplenic, or mesenteric lymph nodes (2 cats) was observed by gross or microscopic examination. The infiltrating cells had histiocytic morphology with cytologic atypia characterized by anisokaryosis and hyperchromasia regionally within infiltrated tissues. Lesional histiocytes expressed vimentin, CD18, and E-cadherin. Expression of E-cadherin was usually markedly reduced in extra-pulmonary lesions, which is consistent with possible down-regulation of E-cadherin associated with distant migration from the lung. Transmission electron microscopy demonstrated intracytoplasmic organelles consistent with Birbeck's granules of Langerhans cells in the lesional histiocytes in all cats, except in the pancreas of one cat. These findings were compatible with PLCH with limited organ involvement of humans. It remains unproven whether feline PLCH represents a reactive or neoplastic cell proliferation.

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

2011 ◽  
Vol 96 (9) ◽  
pp. E1352-E1360 ◽  
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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