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Langerhans cell histiocytosis (view source)
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'''Langerhans cell histiocytosis''', abbreviated '''LCH''', is a rare | [[Image:Langerhans cell histiocytosis - very high mag.jpg|thumb|right|Langerhans cell histiocytosis. [[H&E stain]]. (WC/Nephron)]] | ||
'''Langerhans cell histiocytosis''', abbreviated '''LCH''', is a rare disorder of tissue macrophages. It broadly fits into the category of ''[[histiocytoses]]''. It used to known as ''eosinophilic granuloma''. | |||
It has been referred to by several eponyms - '''Hand-Schüller-Christian disease''', '''Abt-Letterer-Siwe disease''' or '''Letterer-Siwe disease''', and '''histiocytosis X'''. | |||
This article deals with LCH in general. A separate article exists for ''[[pulmonary Langerhans cell histiocytosis]]''. | |||
==General== | ==General== | ||
LCH is really four (or three) diseases (depending on how one classifies it) - that happen to share the same histology:<ref>{{Ref PCPBoD8|338-9}}</ref><ref name=pmid16295427>{{Cite journal | last1 = Chhabra | first1 = UD. | last2 = Desai | first2 = SS. | last3 = Jambhekar | first3 = NA. | title = Langerhans' cell histiocytosis: a clinicopathological study of 50 cases. | journal = Indian J Pathol Microbiol | volume = 47 | issue = 3 | pages = 370-6 | month = Jul | year = 2004 | doi = | PMID = 16295427 }}</ref> | ===Overview=== | ||
LCH is really four (or three) diseases (depending on how one classifies it) - that happen to share the same histology:<ref name=Ref_PCPBoD8_338-9>{{Ref PCPBoD8|338-9}}</ref><ref name=pmid16295427>{{Cite journal | last1 = Chhabra | first1 = UD. | last2 = Desai | first2 = SS. | last3 = Jambhekar | first3 = NA. | title = Langerhans' cell histiocytosis: a clinicopathological study of 50 cases. | journal = Indian J Pathol Microbiol | volume = 47 | issue = 3 | pages = 370-6 | month = Jul | year = 2004 | doi = | PMID = 16295427 }}</ref> | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
! Disease | ! Disease | ||
| Line 43: | Line 49: | ||
* † Robbins lumps these groups together. | * † Robbins lumps these groups together. | ||
* ‡ Incompletely understood. Somatic BRAF mutations identified in approximately half of the individuals.<ref name=pmid20519626>{{Cite journal | last1 = Badalian-Very | first1 = G. | last2 = Vergilio | first2 = JA. | last3 = Degar | first3 = BA. | last4 = MacConaill | first4 = LE. | last5 = Brandner | first5 = B. | last6 = Calicchio | first6 = ML. | last7 = Kuo | first7 = FC. | last8 = Ligon | first8 = AH. | last9 = Stevenson | first9 = KE. | title = Recurrent BRAF mutations in Langerhans cell histiocytosis. | journal = Blood | volume = 116 | issue = 11 | pages = 1919-23 | month = Sep | year = 2010 | doi = 10.1182/blood-2010-04-279083 | PMID = 20519626 }}</ref><ref name=pmid22017623>{{Cite journal | last1 = Badalian-Very | first1 = G. | last2 = Vergilio | first2 = JA. | last3 = Degar | first3 = BA. | last4 = Rodriguez-Galindo | first4 = C. | last5 = Rollins | first5 = BJ. | title = Recent advances in the understanding of Langerhans cell histiocytosis. | journal = Br J Haematol | volume = 156 | issue = 2 | pages = 163-72 | month = Jan | year = 2012 | doi = 10.1111/j.1365-2141.2011.08915.x | PMID = 22017623 }}</ref> | * ‡ Incompletely understood. Somatic BRAF mutations identified in approximately half of the individuals.<ref name=pmid20519626>{{Cite journal | last1 = Badalian-Very | first1 = G. | last2 = Vergilio | first2 = JA. | last3 = Degar | first3 = BA. | last4 = MacConaill | first4 = LE. | last5 = Brandner | first5 = B. | last6 = Calicchio | first6 = ML. | last7 = Kuo | first7 = FC. | last8 = Ligon | first8 = AH. | last9 = Stevenson | first9 = KE. | title = Recurrent BRAF mutations in Langerhans cell histiocytosis. | journal = Blood | volume = 116 | issue = 11 | pages = 1919-23 | month = Sep | year = 2010 | doi = 10.1182/blood-2010-04-279083 | PMID = 20519626 }}</ref><ref name=pmid22017623>{{Cite journal | last1 = Badalian-Very | first1 = G. | last2 = Vergilio | first2 = JA. | last3 = Degar | first3 = BA. | last4 = Rodriguez-Galindo | first4 = C. | last5 = Rollins | first5 = BJ. | title = Recent advances in the understanding of Langerhans cell histiocytosis. | journal = Br J Haematol | volume = 156 | issue = 2 | pages = 163-72 | month = Jan | year = 2012 | doi = 10.1111/j.1365-2141.2011.08915.x | PMID = 22017623 }}</ref> | ||
===Clinical presentation=== | |||
Features - dependent on subtype:<ref name=Ref_PCPBoD8_338-9>{{Ref PCPBoD8|338-9}}</ref> | |||
*May present with fever, anemia, bone pain, bone fracture, diabetes insipidus, exophthalmos. | |||
*Can be an incidental finding. | |||
==Microscopic== | ==Microscopic== | ||
Features: | Features:<ref name=pmid16295427/> | ||
*Langerhans cells histiocytes - '''key feature'''. | *Langerhans cells histiocytes - '''key feature'''. | ||
**Clusters of cells (histiocytes) with a reniform (kidney-shaped) nucleus and abundant foamy cytoplasm. | **Clusters of cells (histiocytes) with a reniform (kidney-shaped) nucleus and abundant foamy cytoplasm. | ||
***Nucleus may look like a "[[coffee bean nucleus|coffee bean]]", i.e. have nuclear grooves (similar to those in [[papillary thyroid carcinoma]]) -- appearance dependent on the rotation of the nucleus.<ref>BN. 15 March 2011.</ref> | ***Nucleus may look like a "[[coffee bean nucleus|coffee bean]]", i.e. have nuclear grooves (similar to those in [[papillary thyroid carcinoma]]) -- appearance dependent on the rotation of the nucleus.<ref>BN. 15 March 2011.</ref> May be called "buttock cells". | ||
***Chromatin pattern: fine granular, light gray. | ***Chromatin pattern: fine granular, light gray. | ||
*+/-Eosinophils - often prominent. | *+/-Eosinophils - often prominent. | ||
*+/-Fibrosis - common. | |||
*+/-Other inflammatory cells - neutrophils, plasma cells (uncommon). | |||
*+/-Multinucleated giant cells - uncommon. | |||
* | |||
* | |||
DDx: | DDx: | ||
*[[Kimura disease]] - eosinophilia. | *[[Kimura disease]] - eosinophilia. | ||
*See ''[[lymph node pathology]]''. | *See ''[[lymph node pathology]]''. | ||
*See ''[[Long_power_list#Many_eosinophils|lesions with many eosinophils]]''. | |||
===Images=== | |||
<gallery> | |||
Image:Langerhans cell histiocytosis - very low mag.jpg| LCH - very low mag. (WC/Nephron) | |||
Image:Langerhans cell histiocytosis - low mag.jpg| LCH - low mag. (WC/Nephron) | |||
Image:Langerhans cell histiocytosis - intermed mag.jpg| LCH - intermed. mag. (WC/Nephron) | |||
Image:Langerhans cell histiocytosis - very high mag.jpg| LCH - very high mag. (WC/Nephron) | |||
</gallery> | |||
====www==== | |||
*[http://path.upmc.edu/cases/case533.html LCH - several images (upmc.edu)]. | |||
==IHC== | ==IHC== | ||
| Line 67: | Line 85: | ||
*S100 +ve. | *S100 +ve. | ||
*CD207 ([[AKA]] Langerin) +ve.<ref name=omim604862>{{OMIM|604862}}</ref> | *CD207 ([[AKA]] Langerin) +ve.<ref name=omim604862>{{OMIM|604862}}</ref> | ||
==Molecular== | |||
*Commonly have BRAF mutations ~ 40-70% of cases.<ref name=pmid26980021>{{Cite journal | last1 = Alayed | first1 = K. | last2 = Medeiros | first2 = LJ. | last3 = Patel | first3 = KP. | last4 = Zuo | first4 = Z. | last5 = Li | first5 = S. | last6 = Verma | first6 = S. | last7 = Galbincea | first7 = J. | last8 = Cason | first8 = RC. | last9 = Luthra | first9 = R. | title = BRAF and MAP2K1 mutations in Langerhans cell histiocytosis: a study of 50 cases. | journal = Hum Pathol | volume = | issue = | pages = | month = Feb | year = 2016 | doi = 10.1016/j.humpath.2015.12.029 | PMID = 26980021 }}</ref> | |||
**The ''[[BRAF V600E mutation|V600E mutation]]'' is the most common BRAF mutation.<ref name=pmid27094161>{{Cite journal | last1 = Tatsuno | first1 = M. | last2 = Shioda | first2 = Y. | last3 = Iwafuchi | first3 = H. | last4 = Yamazaki | first4 = S. | last5 = Iijima | first5 = K. | last6 = Takahashi | first6 = C. | last7 = Ono | first7 = H. | last8 = Uchida | first8 = K. | last9 = Okamura | first9 = O. | title = BRAF V600 mutations in Langerhans cell histiocytosis with a simple and unique assay. | journal = Diagn Pathol | volume = 11 | issue = 1 | pages = 39 | month = | year = 2016 | doi = 10.1186/s13000-016-0489-z | PMID = 27094161 }}</ref> | |||
**MAP2K1 mutations are often found in the cases without BRAF mutations.<ref name=pmid26980021/><ref>{{Cite journal | last1 = Chakraborty | first1 = R. | last2 = Hampton | first2 = OA. | last3 = Shen | first3 = X. | last4 = Simko | first4 = SJ. | last5 = Shih | first5 = A. | last6 = Abhyankar | first6 = H. | last7 = Lim | first7 = KP. | last8 = Covington | first8 = KR. | last9 = Trevino | first9 = L. | title = Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. | journal = Blood | volume = 124 | issue = 19 | pages = 3007-15 | month = Nov | year = 2014 | doi = 10.1182/blood-2014-05-577825 | PMID = 25202140 }}</ref> | |||
==Electron microscopy== | ==Electron microscopy== | ||