Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients

다국어 초록 (Multilingual Abstract)

Purpose: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population.
Methods: Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgHMALT1 translocations and chromosomes 3 and 18 aneuploidies using fluorescence in situ hybridization. Patient medical records were reviewed retrospectively for information on demographics and clinical characteristics, including treatment response.
Results: The MALT1 gene rearrangement was found in one out of 30 cases. The t(14;18) IgH-MALT1 translocation was demonstrated in only one case (3.3%), and the t(11;18) API2-MALT1 translocation was not found in any of the cases. Trisomy 3 was observed in three ocular adnexal MALT lymphomas (10.0%), and five cases showed trisomy 18 (16.7%). Translocation positive cases also showed trisomy 18. One case of tumor relapse showed trisomy 18 only in the recurrent biopsies. There were no statistically significant correlations between chromosomal aberrations and clinical characteristics and treatment responses.
Conclusions: Translocations involving the MALT1 gene are not common in Korean ocular adnexal MALT lymphomas.
The t(14;18) translocation was detected in only one out of 30 cases, and the t(11;18) translocation was not found at all. Furthermore, the chromosomal aberrations found in this study had no prognostic implications.

참고문헌 (Reference)

1 Isaacson PG, "WHO classification of tumors of haematopoietic and lymphoid tissues" IARC Press 214-217, 2008

2 김진만, "WHO Classification of Malignant Lymphomas in Korea: Report of the Third Nationwide Study" 대한병리학회 45 (45): 254-260, 2011

3 Ye H, "Variable frequencies of t(11;18)(q21;q21) in MALT lymphomas of different sites:significant association with CagA strains of H pylori in gastric MALT lymphoma" 102 : 1012-1018, 2003

4 Streubel B, "Variable frequencies of MALT lymphoma-associated genetic aberrations in MALT lymphomas of different sites" 18 : 1722-1726, 2004

5 Murga Penas EM, "Translocations t(11;18)(q21;q21) and t(14;18)(q32;q21) are the main chromosomal abnormalities involving MLT/MALT1 in MALT lymphomas" 17 : 2225-2229, 2003

6 Alpen B, "Translocation t(11;18) absent in early gastric marginal zone B-cell lymphoma of MALT type responding to eradication of Helicobacter pylori infection" 95 : 4014-4015, 2000

7 Ott G, "The t(11;18)(q21;q21) chromosome translocation is a frequent and specific aberration in low-grade but not high-grade malignant non-Hodgkin’s lymphomas of the mucosa-associated lymphoid tissue (MALT-) type" 57 : 3944-3948, 1997

8 Remstein ED, "The incidence and anatomic site specificity of chromosomal translocations in primary extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)in North America" 30 : 1546-1553, 2006

9 Liu H, "T(11;18)(q21;q21) is associated with advanced mucosa-associated lymphoid tissue lymphoma that expresses nuclear BCL10" 98 : 1182-1187, 2001

10 Liu H, "T(11;18) is a marker for all stage gastric MALT lymphomas that will not respond to H. pylori eradication" 122 : 1286-1294, 2002

11 Liu H, "Resistance of t(11;18) positive gastric mucosa-associated lymphoid tissue lymphoma to Helicobacter pylori eradication therapy" 357 : 39-40, 2001

12 Moslehi R, "Rapidly increasing incidence of ocular non-hodgkin lymphoma" 98 : 936-939, 2006

13 Huang Q, "Promoter hypermethylation of multiple genes in gastric lymphoma" 48 : 1988-1996, 2007

14 Liu XF, "Promoter hypermethylation of death-associated protein kinase gene in cholangiocarcinoma" 6 : 407-411, 2007

15 Takino H, "Primary cutaneous marginal zone B-cell lymphoma: a molecular and clinicopathological study of cases from Asia, Germany, and the United States" 21 : 1517-1526, 2008

16 Malaty HM, "Prevalence of Helicobacter pylori infection in Korean children: inverse relation to socioeconomic status despite a uniformly high prevalence in adults" 143 : 257-262, 1996

17 Schiby G, "Orbital marginal zone lymphomas: an immunohistochemical, polymerase chain reaction, and fluorescence in situ hybridization study" 38 : 435-442, 2007

18 Coupland SE, "Ocular adnexal lymphomas:five case presentations and a review of the literature" 47 : 470-490, 2002

19 Rosado MF, "Ocular adnexal lymphoma: a clinicopathologic study of a large cohort of patients with no evidence for an association with Chlamydia psittaci" 107 : 467-472, 2006

20 Adachi A, "No evidence of a correlation between BCL10 expression and API2-MALT1gene rearrangement in ocular adnexal MALT lymphoma" 54 : 16-25, 2004

21 Mulder MM, "No evidence for an association of ocular adnexal lymphoma with Chlamydia psittaci in a cohort of patients from the Netherlands" 30 : 1305-1307, 2006

22 Schreuder MI, "Mutual exclusion of t(11;18)(q21;q21) and numerical chromosomal aberrations in the development of different types of primary gastric lymphomas" 123 : 590-599, 2003

23 Choung HK, "Multigene methylation analysis of ocular adnexal MALT lymphoma and their relationship to Chlamydophila psittaci infection and clinical characteristics in South Korea" 53 : 1928-1935, 2012

24 Inagaki H, "Mucosa-associated lymphoid tissue lymphoma:molecular pathogenesis and clinicopathological significance" 57 : 474-484, 2007

25 Du MQ, "Molecular subtyping of gastric MALT lymphomas: implications for prognosis and management" 55 : 886-893, 2006

26 Sagaert X, "MALT1 and BCL10aberrations in MALT lymphomas and their effect on the expression of BCL10 in the tumour cells" 19 : 225-232, 2006

27 Ye H, "MALT lymphoma with t(14;18)(q32;q21)/IGH-MALT1 is characterized by strong cytoplasmic MALT1 and BCL10 expression" 205 : 293-301, 2005

28 Oh DE, "Lymphoproliferative diseases of the ocular adnexa in Korea" 125 : 1668-1673, 2007

29 Ferry JA, "Lymphoma of the ocular adnexa: a study of 353 cases" 31 : 170-184, 2007

30 Clarke CA, "Lymphoid malignancies in U.S. Asians: incidence rate differences by birthplace and acculturation" 20 : 1064-1077, 2011

31 Han JJ, "Long-term outcomes of first-line treatment with doxycycline in patients with previously untreated ocular adnexal marginal zone B cell lymphoma" 94 : 575-581, 2015

32 Vargas RL, "Is there an association between ocular adnexal lymphoma and infection with Chlamydia psittaci? The University of Rochester experience" 30 : 547-551, 2006

33 Takada S, "Involvement of the chromosomal translocation t(11;18) in some mucosa-associated lymphoid tissue lymphomas and diffuse large B-cell lymphomas of the ocular adnexa: evidence from multiplex reverse transcriptase-polymerase chain reaction and fluorescence in situ hybridization on using formalin-fixed, paraffin-embedded specimens" 16 : 445-452, 2003

34 Jenkins C, "Histological features of ocular adnexal lymphoma (REAL classification) and their association with patient morbidity and survival" 84 : 907-913, 2000

35 Wotherspoon AC, "Helicobacter pylori-associated gastritis and primary B-cell gastric lymphoma" 338 : 1175-1176, 1991

36 Hoeve MA, "Gastric lowgrade MALT lymphoma, high-grade MALT lymphoma and diffuse large B cell lymphoma show different frequencies of trisomy" 13 : 799-807, 1999

37 Tanimoto K, "Fluorescence in situ hybridization (FISH) analysis of primary ocular adnexal MALT lymphoma" 6 : 249-, 2006

38 Kim TM, "First-line therapy with doxycycline in ocular adnexal mucosa-associated lymphoid tissue lymphoma: a retrospective analysis of clinical predictors" 101 : 1199-1203, 2010

39 Sjo LD, "Extranodal marginal zone lymphoma in the ocular region: clinical, immunophenotypical, and cytogenetical characteristics" 50 : 516-522, 2009

40 Ruiz A, "Extranodal marginal zone B-cell lymphomas of the ocular adnexa: multiparameter analysis of 34 cases including interphase molecular cytogenetics and PCR for Chlamydia psittaci" 31 : 792-802, 2007

41 Ferreri AJ, "Evidence for an association between Chlamydia psittaci and ocular adnexal lymphomas" 96 : 586-594, 2004

42 Yoon SO, "Distribution of lymphoid neoplasms in the Republic of Korea: analysis of 5318 cases according to the World Health Organization classification" 85 : 760-764, 2010

43 Nomura K, "Detection of t(11;18)(q21;q21) in marginal zone lymphoma of mucosa-associated lymphocytic tissue type on paraffin-embedded tissue sections by using fluorescence in situ hybridization" 140 : 49-54, 2003

44 Dierlamm J, "Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLT specific probes" 96 : 2215-2218, 2000

45 Wotherspoon AC, "Cytogenetic study of B-cell lymphoma of mucosa-associated lymphoid tissue" 58 : 35-38, 1992

46 Cho EY, "Clinicopathologic analysis of ocular adnexal lymphomas: extranodal marginal zone b-cell lymphoma constitutes the vast majority of ocular lymphomas among Koreans and affects younger patients" 73 : 87-96, 2003

47 김욱연, "Clinicopathologic Study of Chromosomal Aberrations in Gastric Lymphomas of Korean Patients" 대한병리학회 43 (43): 5-12, 2009

48 Yoo C, "Chlamydia psittaci infection and clinicopathologic analysis of ocular adnexal lymphomas in Korea" 82 : 821-823, 2007

49 Daibata M, "Absence of Chlamydia psittaci in ocular adnexal lymphoma from Japanese patients" 132 : 651-652, 2006

50 Akagi T, "A novel gene, MALT1at 18q21, is involved in t(11;18) (q21;q21) found in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue" 18 : 5785-5794, 1999