Review on Primary cutaneous CD30+ anaplastic large cell lymphoma, with data on clinics, and the genes involved

Castoldi, GL

Cuneo, A

Atlas of Genetics and Cytogenetics in Oncology and Haematology

I-Revues

   
 
 
 
 
 
Leukaemia Section 
Mini Review 
 
Atlas Genet Cytogenet Oncol Haematol. 2005; 9(3)  
 
244 
Atlas of Genetics and Cytogenetics 
in Oncology and Haematology 
OPEN ACCESS JOURNAL AT INIST-CNRS 
Primary cutaneous CD30+ anaplastic large cell 
lymphoma 
Antonio Cuneo, Gianluigi Castoldi 
Hematology Section, Department of Biomedical Sciences, University of Ferrara, Corso Giovecca 203, 
Ferrara, Italy (AC, GC) 
 
Published in Atlas Database: May 2005 
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/PrimarCutanALCLID2118.html 
DOI: 10.4267/2042/38219 
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. 
© 2005 Atlas of Genetics and Cytogenetics in Oncology and Haematology 
 
Identity 
Note 
Formerly referred to as "regressive atypical 
histiocytosis". 
Clinics and pathology 
Phenotype/cell stem origin 
This entity is regarded ad a T-cell lymphoma. The 
neoplastic cells express the CD30 antigen, and show 
variable expression of T-cell markers. Clonal 
rearrangement of the T-cell receptor is usually found in 
approximately 60% of the cases. 
Epidemiology 
It accounts for approximately 9% of all cutaneous 
lymphomas. Median age at onset is 60 years. 
Pathology 
Usually the disease arises de novo in the skin and 
presents with a solitary reddish nodule, which may 
became ulcerated. Rarely, distinct nodules may be 
appreciated in a cutaneous area, or in multiple sites. 
The risk of disese dissemination at extracutaneous sites 
is very low in the presence of a solitary nodule. The 
neoplastic nodule is composed of large anaplastic cells 
with pleomorphic nucleus. Some multinucleated cells 
are also present, resembling Reed-Sternberg cells. 
Reactive neutrophils and macrophages infiltrate the 
lymphomatous lesion. Unlike systemic CD30+ 
anaplastic large cell lymphoma, the expression of the 
ALK protein is not found in primary cutaneous 
tumours. 
Treatment 
Approximately 25% of the cases may show 
spontaneous regression of the cutaneous nodule. 
Surgical excision with or without subsequent 
radiotherapy to the involved cutaneous site is curative 
in the majority of cases. Patients at risk of developing 
recurrence at extracutaneous sites (i.e. with multiple 
nodules at distant cutaneous sites) may require 
multiagent chemotherapy. 
Prognosis 
The prognosis is excellent in those patients with a 
solitary nodule undergoing complete surgical resection. 
Adequate systemic treatment usually attains durable 
complete responses in patients with disseminated 
disease, with a 90% overall survival at 5 years. 
Cytogenetics 
Note 
The tumour cells are difficult to grow in culture and 
few data are available. The t(2;5), usually associated 
with systemic anaplastic large cell lymphoma, is not 
found in this disease. Single cases with variant ALK 
translocations were described. In patients with 
extranodal anaplastic large cell lymphoma, recurrent 
breakpoints occurred at 1p36; 6p25 and 8q24; a 6q- 
chromosome was found in one patient. 
Cytogenetics molecular 
Comparative genomic hybridization studies disclosed 
chromosomal imbalances in approximately 40% of the 
cases. The most frequent gains involved chromosome 
1/1p and 5 (50% of the cases), 6,7,8/8p, and 19 (38%).  
 
Primary cutaneous CD30+ anaplastic large cell lymphoma Cuneo A, Castoldi GL 
 
 
 
 
 
Atlas Genet Cytogenet Oncol Haematol. 2005; 9(3)  
 
245 
Gains involving chromosome 9 were also described. 
Other gains occurred less frequently at 3/3p, 7/7q, 10, 
12, 13, 15q and 20/20p. Recurrent losses were detected 
at 6q21 and 18p11. There is a positive correlation 
between the presence of chromosomal imbalances and 
clonal T-cell receptor gene rearrangement. Recurrent 
oncogene copy number gains involve FGFR1 at 8p11; 
NRAS at 1p13.2, RAF1 at 3p25, >CC: TXT: MYCN 
ID: 112> at 2p24.1, CTSB at 8p22, FES at 15q26.1 and 
CBAF2 at 21q22. The majority of cases investigated by 
real time PCR revealed amplification of the following 
genes: CTSB, RAF1, REL at 2p13; JUNB at 19p13. 
Gains involving chromosome 9 and losses involving 
chromosome 6q and 18p were seen in relapsing 
patients. 
References 
Ott G, Katzenberger T, Siebert R, DeCoteau JF, Fletcher JA, 
Knoll JH, Kalla J, Rosenwald A, Ott MM, Weber-Matthiesen K, 
Kadin ME, Müller-Hermelink HK. Chromosomal abnormalities 
in nodal and extranodal CD30+ anaplastic large cell 
lymphomas: infrequent detection of the t(2;5) in extranodal 
lymphomas. Genes Chromosomes Cancer. 1998 
Jun;22(2):114-21 
Mao X, Orchard G, Lillington DM, Russell-Jones R, Young BD, 
Whittaker S. Genetic alterations in primary cutaneous CD30+ 
anaplastic large cell lymphoma. Genes Chromosomes Cancer. 
2003 Jun;37(2):176-85 
Prochazkova M, Chevret E, Beylot-Barry M, Sobotka J, Vergier 
B, Delaunay M, Turmo M, Ferrer J, Kuglik P, Merlio JP. 
Chromosomal imbalances: a hallmark of tumour relapse in 
primary cutaneous CD30+ T-cell lymphoma. J Pathol. 2003 
Nov;201(3):421-9 
ten Berge RL, Oudejans JJ, Ossenkoppele GJ, Meijer CJ. 
ALK-negative systemic anaplastic large cell lymphoma: 
differential diagnostic and prognostic aspects--a review. J 
Pathol. 2003 May;200(1):4-15 
Sasaki K, Sugaya M, Fujita H, Takeuchi K, Torii H, Asahina A, 
Tamaki K. A case of primary cutaneous anaplastic large cell 
lymphoma with variant anaplastic lymphoma kinase 
translocation. Br J Dermatol. 2004 Jun;150(6):1202-7 
This article should be referenced as such: 
Cuneo A, Castoldi GL. Primary cutaneous CD30+ anaplastic 
large cell lymphoma. Atlas Genet Cytogenet Oncol Haematol. 
2005; 9(3):244-245. 


Primary cutaneous CD30+ anaplastic large cell lymphoma

http://documents.irevues.inist.fr/bitstream/2042/38219/3/05-2005-PrimarCutanALCLID2118.pdf

Primary cutaneous CD30+ anaplastic large cell lymphoma

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