BRAF gene mutations in synchronous papillary thyroid carcinoma and Langerhans cell histiocytosis co-existing in the thyroid gland: a case report and literature review

Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland. Its association with papillary thyroid carcinoma (PTC) is extremely rare; with only few case reports available in the English literature. BR...

Full description

Saved in:

Bibliographic Details
Published in:	BMC cancer Vol. 19; no. 1; p. 170
Main Authors:	A Al Hamad, Mohammad, Albisher, Hassan M, Al Saeed, Weam R, Almumtin, Ahmed T, Allabbad, Fatimah M, A Shawarby, Mohammed
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 22-02-2019 BioMed Central BMC
Subjects:	Adult Antineoplastic Combined Chemotherapy Protocols - therapeutic use BRAF gene mutations Cancer genetics Carcinoma Care and treatment Case Report Cell Proliferation Chemotherapy Cytoreduction Surgical Procedures Debulking Deglutition Disorders Diagnosis Etoposide Etoposide - therapeutic use Female Gene mutation Genes Genetic aspects Glucocorticoids Histiocytosis Histiocytosis, Langerhans-Cell - diagnosis Histiocytosis, Langerhans-Cell - genetics Histiocytosis, Langerhans-Cell - therapy Humans Langerhans cell histiocytosis Mutation - genetics Papillary thyroid carcinoma Prednisone Prednisone - therapeutic use Proto-Oncogene Proteins B-raf - genetics Skin Steroids (Organic compounds) Thyroid cancer Thyroid Cancer, Papillary - diagnosis Thyroid Cancer, Papillary - genetics Thyroid Cancer, Papillary - therapy Thyroid diseases Thyroid gland Thyroid Gland - pathology Thyroidectomy BRAF gene mutations Langerhans cell histiocytosis Papillary thyroid carcinoma
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Langerhans cell histiocytosis (LCH) is a rare clonal disease, characterized by hyperproliferation of Langerhans cells. It may rarely involve the thyroid gland. Its association with papillary thyroid carcinoma (PTC) is extremely rare; with only few case reports available in the English literature. BRAF mutations are implicated in the development of papillary thyroid carcinoma, and have also been identified in Langerhans cell histiocytosis. Here we present a rare case of a 36-year-old Indonesian female patient with dysphagia associated with neck mass which was complicated by skin sinus formation. The diagnosis of PTC was rendered on fine needle aspiration (FNA). Debulking thyroidectomy revealed co-existeence of PTC and LCH. On subsequent molecular testing, BRAF V600E and V600K mutations were detected in tissues macrodissected from both lesions, respectively. To the best of our knowledge, this case is the first case to report two different BRAF mutations in tissues of a Langerhans cell histiocytosis and a papillary thyroid carcinoma co-existing in the thyroid gland. The patient received chemotherapy of etoposide combined with prednisone. At the most recent follow-up, the patient is in a stable clinical condition. The coexistence of a PTC with LCH harboring BRAF mutation may suggest etiologic relation between the two conditions that involves the BRAF gene. Clinically, it may suggest an aggressive, locally advanced thyroid cancer, an impression that may reflect on the selected surgical management, chemotherapy and BRAF mutation-targeting therapy to these patients.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1471-2407 1471-2407
DOI:	10.1186/s12885-019-5372-3