der(18)t(1;18)(q10-25;q11-23)

2015-06-01 Soad Al Bahar , Adriana Zamecnikova Affiliation

1.Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

Clinics and Pathology

Disease

Acute myeloid leukemia (AML), acute lymphocycic leukemia (ALL), multiple myeloma (MM) and lymphoid neoplasms

Phenotype stem cell origin

pluripotent

Etiology

Myeloid neoplasms: a 64 year old female with refractory anemia and 4 patients with AML (1 female infant with Down syndrome and 3 adults (2 males, 1 female; aged 21 to 66 years). Acute lymphoblastic leukemia: a 2 years old female infant with Down syndrome and 3 adults (2 males and 1 female; aged 43 to 70 years). Multiple myeloma: female prevalence (1 male, 10 females) and 12 patients with various lymphoid malignancies: (6 males, 6 females; aged 34 to 70 years)

Epidemiology

32 cases to date; 11 male and 21 female patients aged 1-70 yrs (Table 1)

	Sex/Age	Chromosome anomalies	Disease
		Myeloid neoplasms
1	F/1	48,XX,+8,der(18)t(1;18)(q25;q23),+21c	AML-M6
2	M/52	46,X,-Y,+8,t(8;21)(q22;q22),der(18)t(1;18)(q25;q21)	AML-M2
3	F/64	46,XX,del(2)(q?),r(18)/46,XX,der(18)t(1;18)(q21;q21)	MDS
4	M/21	46,XY,der(18)t(1;18)(q21;q23)	AML-M4
5	F/66	46,XX,der(18)t(1;18)(q25;q23)	AML
		Acute lymphoblastic leukemia
6	M	46,XY,t(12;16)(q21;q21),der(18)t(1;18)(q21;q21),add(22)(q11)	T-cell
7	F/2	47,XX,der(18)t(1;18)(q25;q23),+21c	ALL
8	M/43	46,XY,t(9;22)(q34;q11),der(18)t(1;18)(q11;q23),-20,+mar	B-cell
9	F/70	46,XX,t(9;22)(q34;q11)/46,idem,der(4)t(1;4)(q12;q31)/46,idem,der(18)t(1;18)(q12;q23)	B-cell
		Multiple myeloma
10	F	48-50,XX,+del(3)(q24q28),dup(5)(q23q35),del(6)(q21),+der(6)t(6;13)(q23;q13),add(8)(p10),+9, dic(9;11)(p13;q23),der(11)t(1;11)(q10;q23),del(14)(q32),+15,+17,der(18)t(1;18)(q10;q23),+mar	MM
11	F	42,X,del(X)(q27),del(1)(p21p22),der(6)t(6;21)(q11;q11),der(8)t(8;16)(q22;p11),r(12),-13,der(15) t(15;16)(p?13;q11),-16,der(18)t(1;18)(q11;q23),-20, -21,del(22)(q13)	MM
12	F/69	44,X,-X,del(7)(q22q35),del(8)(p13),-13,add(14)(q24),der(16)t(1;16)(q21;q12),der(18)t(1;18) (q12;q23),+19,-20,-22,+mar	MM
13	F/59	46,XX,del(6)(q15q25),+9,del(13)(q12q14),t(14;16)(q32;q23),der(18)t(1;18)(q12;q22), der(22) t(11;22)(p11;q13)	MM
14	F	45-47,XX,+1,der(1;16)(q10;p10)add(1)(q?42),t(1;9)(q42;p24),add(2)(q37),der(6)t(6;7)(p25;q22) del(6)(q25),+7,der(7)t(6;7),der(12)t(1;12)(q12;p12)add(1)(q?42),-13,der(18)t(1;18)(q12;q21) add(1)(q?42)	MM
15	F	50,XX,+3,der(6)t(6;8)(p21;q24),+7,der(8)t(6;8)(p12;p?23)t(6;8)(p21;q24),+9,add(11)(q24),-13,+15,der(16)t(1;16)(q12;q24),del(17)(p?13),der(18)t(1;18)(q12;q23),+19,del(19)(q13)	MM
16	F	72-86,XX,-Y,-Y,+1,+1,add(1)(p13)x2,del(1)(p11p22),der(1)del(1)(p11p22)del(1)(q11),der(1) t(1;1)(p32;q12),-3,del(6)(q15)x2,-9,-10,-10,add(11)(p15)x2,-13,-13,-14,-14,+16,+add(16)(q24), der(16)t(1;16)dup(1)(q12q21),del(17)(p11),-18,der(18)t(1;18)(q12;q23),-22	MM
17	F	53,XX,+3,+5,+7,?inv(8)(p21q24),del(?9)(p22),+11,del(?14)(q24),der(18)t(1;18)(q12;q23), +19,+20,inc 52,X,-X,+3,+4,t(4;9)(q21;q34),+6,+7,+9,-13,+15,+der(17)t(1;17)(q12;p?11),der(18)t(1;18) (q12;q23),+19,?i(20)(q10)	MM
18	F	48,X,-X,+der(1;16)(q10;p10),add(1)(q?42),der(1)del(1)(p11p31)del(1)(q12),add(6)(q27),+7, ?t(8;22)(q24;q11)x2,del(12)(q21q23),add(?13)(q12),+18,der(18)t(1;18)(q12;q23),der(18)t(1;18) (q12;q23)dup(1)(q12q25)/80-83,idemx2,-der(1),-4,-5,-7,-8,-9,-9,-11,-14,-15,-16,del(16)(q22),-17,del(?20)(q11q13), +mar,inc	MM
19	M	73-86,XXYY,del(1)(q42)x2,del(1)(p11p31)x2,-2,-3,-4,-4,+5,del(5)(q15q33)x2,-7,del(9)(p13),-10,-10,-11,t(11;17)(q13;p13),-12,-13,-14,-15,-15,-16,-17,add(17)(p11),der(18)t(1;18)(q12;q23) x2,-21	MM
20	F	46,X,-X,add(1)(q21),ider(1)(q10)del(1)(q42),?del(5)(p15),+hsr(7)(p15),der(8)t(1;8)(p13;q24), +add(9)(p12),der(10)t(1;10)(q21;p13)add(10)(q26),del(11)(q21q23),del(13)(q12q22),i(13)(q10),-14,add(15)(q26),der(18)t(1;18)(q12;q23),add(20)(q13),der(21)t(1;21)(q12;p13)ins(21;?)(p13;?), add(22)(p11)	MM
		Lymphoma
21	F/70	50,XX,+X,+5,+7,t(8;9)(q21;p13),+12,del(13)(q14),t(14;18)(q32;q21),der(18)t(1;18)(q22;q23)	DLBCL
22	M/58	47,XY,+3,+5,+8,der(14)t(10;14)(q13;q32),der(18)t(1;18)(q31;q23)	FL
23	M/66	45-47,X,-X,t(2;4)(p23;q33),add(6)(p25),+12,der(18)t(1;18)(q12;q23)	ALCL
24	F/57	46,X,der(X)t(X;1)(q28;q12-21)/46,XX,der(18)t(1;18)(q12-21;q23)	FL
25	F/39	45,X,-X,dup(1)(q21q25),t(8;14)(q24;q32),der(18)t(1;18)(q31;q22)	BL
26	F	44-46,XX,der(18)t(1;18)(q21;q23)/45-46,X,der(X)t(1;X)(q12;q28)	FL
27	M/49	46,dup(X)(p22p22),Y,t(8;14)(q24;q32),der(18)t(1;18)(q12;q21)/47,idem,add (15)(q26),+16	PT LPD
28	F	50,XX,der(3)t(3;4)(q27;p14),del(4)(p14),+del(5)(q33q35),i(6)(p10),+7,+9,t(14;18)(q32;q21), der(17)t(17;18)(q11;q11),+der(17),der(18)t(1;18)(q21;q12)	FL
29	M	48,XY,+X,+7,del(10)(q22q24),der(18)t(1;18)(q11;q23)/48,idem,t(8;14)(q24;q32),del(11) (p13p15),dup(12)(q15q21)	FL
30	M	46,XY,del(1)(q24),der(6)t(6;8)(q15;q13),der(6)t(6;15)(p22;q11),+del(7)(q11),der(8)t(1;8)(q24;p11),t(11;14)(q13;q32),der(18)t(1;18)(q24;q23),+21	MCL
31	M/34	46,XY,der(2)t(2;14)(p12;q32),+7,dup(11)(q13q24),der(14)t(2;14)(p12;q32),der(14)t(1;14)(q12 or p11;p11)t(8;14)(q24;q32),-21,der(22)t(21;22) (q11;p11)/47, idem,+X,der(18)t(1;18)(q21;q2?2)	BL
32	F/44	80-82,XXXX,add(1)(p13),add(2)(q37),add(3)(p25),inv(3)(p21p25),-4,del(5)(q11q33),del(7) (q31q35),-8,-12,-13,-14,-15,-16,del(17)(p12),der(18)t(1;18)(q21;q23),+18,-19,+19,add(20)(q13)x2,add(21)(q22)	ATLL (HTLV-1+)

Abbreviations: M, male; F, female; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; MM, multiple myeloma; DLBCL, diffuse large B-cell lymphoma; FL, follicular lymphoma; MCL, mantle cell lymphoma; PT LPD, post-transplant lymphoproliferative disorder; BL, Burkitt lymphoma/leukemia; ALCL, anaplastic large cell lymphoma; ATLL, adult T-cell lymphoma/leukemia.
References: 1. GFCH (Groupe Francais de Cytogénétique Hématologique), 1988; 2. Misawa et al., 1988; 3. Geddes et al.,1990; 4. Zamecnikova et al., 2002; 5. Farag et al., 2006; 6. Heerema et al., 1998; 7. Brozek et al., 1999; 8. Lee et al., 2002; 9. Manola et al., 2008; 10. Brigaudeau et al., 1997; 11. Sawyer et al., 1998; 12. Le Baccon et al., 2001; 13. Mohammed et al., 2007; 14-20. Sawyer et al., 2014; 21. Koduru et al., 1987; 22. Slavutsky et al., 1987; 23. Ott et al., 1998; 24. Rosenwald et al., 1999; 25. Le Baccon et al., 2001; 26. Katzenberger et al., 2004; 27. Djokic et al., 2006; 28-29. Johnson et al., 2008; 30. Salaverria et al., 2008; 31. Havelange et al., 2013; 32. Narayan et al., 2013.

CLINICS

Prognosis

Unknown; likely unfavorable in cases with complex karyotypes.

Cytogenetics

Cytogenetics morphological

Found as -18, + der(18)t(1;18)(q10-25;q11-23) with 2 normal chromosomes 1, a normal chromosome 18 and a der(18) chromosome. Breakpoints in 1q were clustering to 1q21-23; the 18q breaks occurred mostly in 18q21-23 region.

Additional anomalies

May be associated with known anomalies such as t(8;21)(q22;q22) or +8 in AML and t(9;22)(q34;q11) in ALL; part of complex karyotypes in MM. Associated with 14q32 rearrangements, (8 cases); +7 (4 cases), -X/+X (5 cases) and chromosome X anomalies (3 cases) in lymphoid malignancies.

Article Bibliography

Pubmed ID	Last Year	Title	Authors
9054668	1997	Cytogenetic study of 30 patients with multiple myeloma: comparison of 3 and 6 day bone marrow cultures stimulated or not with cytokines by using a miniaturized karyotypic method.	Brigaudeau C et al
10214363	1999	A second known case of Down syndrome with t(1;18)(q25;q23) in leukemic cells.	Brozek I et al
2972356	1988	Cytogenetic findings in leukemic cells of 56 patients with constitutional chromosome abnormalities. A cooperative study. Groupe Français de Cytogénétique Hématologique.
16283619	2006	Post-transplant lymphoproliferative disorder subtypes correlate with different recurring chromosomal abnormalities.	Djokic M et al
2094322	1990	Clonal karyotype abnormalities and clinical progress in the myelodysplastic syndrome.	Geddes AA et al
9552025	1998	Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group.	Heerema NA et al
18720523	2008	Prognostic significance of secondary cytogenetic alterations in follicular lymphomas.	Johnson NA et al
15277222	2004	Cytogenetic alterations affecting BCL6 are predominantly found in follicular lymphomas grade 3B with a diffuse large B-cell component.	Katzenberger T et al
3790730	1987	Cytogenetic and histologic correlations in malignant lymphoma.	Koduru PR et al
11579465	2001	Novel evidence of a role for chromosome 1 pericentric heterochromatin in the pathogenesis of B-cell lymphoma and multiple myeloma.	Le Baccon P et al
11918540	2002	Influence of karyotype on outcome of allogeneic bone marrow transplantation for adults with precursor B-lineage acute lymphoblastic leukaemia in first or second remission.	Lee S et al
19027489	2008	Jumping translocations in hematological malignancies: a cytogenetic study of five cases.	Manola KN et al
3193811	1988	Detection of karyotypic abnormalities in most patients with acute nonlymphocytic leukemia by adding ethidium bromide to short-term cultures.	Misawa S et al
17654686	2007	Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.	Mohamed AN et al
23929756	2013	PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.	Narayan G et al
9598798	1998	Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas.	Ott G et al
9973925	1999	Jumping translocation of 1q as the sole aberration in a case of follicular lymphoma.	Rosenwald A et al
18709664	2008	Multiple recurrent chromosomal breakpoints in mantle cell lymphoma revealed by a combination of molecular cytogenetic techniques.	Salaverria I et al
9834233	1998	Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.	Sawyer JR et al
24497533	2014	Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease.	Sawyer JR et al
3108092	1987	Chromosome studies in human hematologic diseases: non-Hodgkin's lymphomas.	Slavutsky I et al
11943352	2002	Acute myelomonocytic leukemia with t(1;18) in an adult patient.	Zámecníkova A et al

Summary

Partial karyotypes with der(18)t(1;18)(q10;q11)

Citation

Soad Al Bahar ; Adriana Zamecnikova

der(18)t(1;18)(q10-25;q11-23)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1655/favicon/js/gene-explorer/