MYB (v-myb myeloblastosis viral oncogene homolog (avian)), NFIB (nuclear factor I B), ">

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Skin: Cylindroma

Written2012-04André Fehr, Göran Stenman
Sahlgrenska Cancer Center, Department of Pathology, University of Gothenburg, Box 425, SE-405 30 Gothenburg, Sweden

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Identity

ICD-Topo C440-C449 SKIN
ICD-Morpho 8200/0 Cylindroma
Atlas_Id 6377
Phylum Lung, Heart, Skin, Other::Cylindroma
Other namesDermal cylindroma
Dermal eccrine cylindroma and (less specific) cylindroma

Clinics and Pathology

Disease Dermal cylindroma
Note Dermal cylindroma is a common benign adnexal tumor which occurs mainly in the head and neck region, especially on the scalp and face (Weedon, 2002; McNiff et al., 2006).
Clinics There is a strong predilection for middle-aged and elderly females. Dermal cylindromas may be found as solitary or multiple lesions, the latter being associated with the autosomal dominant Brooke-Spiegler syndrome (familial cylindromatosis; OMIM 605041) which is caused by mutations in the tumor suppressor gene CYLD (Bignell et al., 2000).
Pathology Microscopically, dermal cylindromas are composed of multiple tumor lobules arranged in a jigsaw pattern. The lobules are typically surrounded by a rim of PAS-positive basement membrane material and are composed of undifferentiated basaloid tumor cells. The histogenesis of dermal cylindroma is controversial. It is still uncertain whether they originate from apocrine or eccrine sweat glands or if they as recently suggested may be derived from hair follicle epithelium (reviewed in Weedon, 2002; Klein et al., 2005; Massoumi et al., 2006; Massoumi and Paus, 2007).

Cytogenetics

Cytogenetics
Morphological
t(6;9)(q22-23;p23-24) translocation.

Genes involved and Proteins

Gene NameMYB (v-myb myeloblastosis viral oncogene homolog (avian))
Location 6q23.3
Note Leucine zipper transcription factor. MYB in solid tumors was recently reviewed by Stenman et al., 2010.
Dna / Rna RefSeq DNA sequence: NC_000006.11, NT_025741.15.
Protein The MYB protein plays an essential role in the regulation of hematopoiesis and may play a role in tumorigenesis. Alternative splicing results in multiple transcript variants.

Gene NameNFIB (nuclear factor I B)
Location 9p23
Note CCAAT-box-binding transcription factor.
Dna / Rna RefSeq DNA sequence: NC_000009.11, NT_008413.18.

Result of the chromosomal anomaly

Hybrid Gene
Note MYB-NFIB.
Description RT-PCR analysis revealed that 6 of 11 dermal cylindromas were positive for the MYB-NFIB fusion; one case had a fusion of MYB exon 12 to NFIB exon 9 and 5 cases had a fusion of MYB exon 14 to NFIB exon 8c. The composition of the chimeric transcript variants identified was identical to that previously reported in adenoid cystic carcinoma, suggesting a similar molecular mechanism of activation of MYB in both tumor types (Persson et al., 2009; Brill et al., 2011; Fehr et al., 2011).
Detection Described by Persson et al., 2009 and Fehr et al., 2011.
Fusion Protein
Description Analysis of MYB expression by immunohistochemistry using a monoclonal anti-MYB antibody recognizing an N-terminal peptide of the protein revealed overexpression of MYB in 6 of 10 cylindromas. Fusion-negative tumors lacked MYB expression, indicating that a subgroup of cylindromas in fact are MYB-negative (Fehr et al., 2011).
  

To be noted

The results from Fehr et al., 2011 indicate that MYB oncogene activation through gene fusion is an important pathogenetic mechanism that may contribute to cylindroma tumorigenesis. In this context it will be of interest to test also familial cases of cylindroma (Brooke Spiegler syndrome) for the MYB-NFIB fusion to determine whether MYB activation along with loss of CYLD1 simultaneously occur in these cases.

Bibliography

Identification of the familial cylindromatosis tumour-suppressor gene.
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S.
Nat Genet. 2000 Jun;25(2):160-5.
PMID 10835629
 
Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms.
Brill LB 2nd, Kanner WA, Fehr A, Andren Y, Moskaluk CA, Loning T, Stenman G, Frierson HF Jr.
Mod Pathol. 2011 Sep;24(9):1169-76. doi: 10.1038/modpathol.2011.86. Epub 2011 May 13.
PMID 21572406
 
The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma.
Fehr A, Kovacs A, Loning T, Frierson H Jr, van den Oord J, Stenman G.
J Pathol. 2011 Jul;224(3):322-7. doi: 10.1002/path.2909. Epub 2011 May 27.
PMID 21618541
 
Tumors of the epidermal appendages.
Klein W, Chan E, Seykora JT.
9th ed, Lippincott Williams & Wilkins: Philadelphia, 2005; 897-898.
 
Cylindromatosis and the CYLD gene: new lessons on the molecular principles of epithelial growth control.
Massoumi R, Paus R.
Bioessays. 2007 Dec;29(12):1203-14. (REVIEW)
PMID 18008375
 
Benign tumours with apocrine and eccrine differentiation.
McNiff JTHM, Requena L, Sangueza OP, Vassallo C, Rosso R, Borroni G, Glusac EJ, Pichardo RO.
World Health Organization Classification of Tumors Pathology and Genetics of Skin Tumours. Press: Lyon, France, 2006; 139-148.
 
Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck.
Persson M, Andren Y, Mark J, Horlings HM, Persson F, Stenman G.
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18740-4. Epub 2009 Oct 19.
PMID 19841262
 
New tricks from an old oncogene: gene fusion and copy number alterations of MYB in human cancer.
Stenman G, Andersson MK, Andren Y.
Cell Cycle. 2010 Aug 1;9(15):2986-95. Epub 2010 Aug 28. (REVIEW)
PMID 20647765
 
Skin Pathology.
Weedon D.
2nd ed, Churchill-Livingstone: London, 2002; 890-891.
 

Citation

This paper should be referenced as such :
Fehr, A ; Stenman, G
Skin: Cylindroma
Atlas Genet Cytogenet Oncol Haematol. 2012;16(9):683-684.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/SkinCylindromaID6377.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(6;9)(q23;p23) MYB/NFIB

External links

Mitelman database t(6;9)(q23;p23) MYB/NFIB [Case List]    t(6;9)(q23;p23) MYB/NFIB [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C44) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseMYB/NFIB[MCList]    MYB (6q23.3) NFIB (9p23)   t(6;9)(q23;p22)
TCGA_FusionMYB/NFIB    MYB (6q23.3) NFIB (9p23)
TICdbMYB/NFIB    MYB (6q23.3) NFIB (9p23)
 
Disease databaseSkin: Cylindroma
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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