der(Y)t(Y;1)(q11-12;q12-21)

Abstract

Structural abnormalities involving sex chromosomes are uncommon in hematological malignancies. The unbalanced translocation between the long arm of chromosomes 1 and Y results in a partial trisomy of the 1q region and has been described mainly in chronic myeloproliferative disorders.

Keywords

Chronic myeloproliferative disorders; unbalanced translocation; genomic gains; disease evolution.

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9950/3 Polycythaemia vera
ICD-Morpho	9961/3 Primary myelofibrosis
ICD-Morpho	9945/3 Chronic myelomonocytic leukaemia
ICD-Morpho	9962/3 Essential thrombocythaemia
ICD-Morpho	9874/3 AML with maturation
ICD-Morpho	9867/3 Acute myelomonocytic leukaemia
ICD-Morpho	9891/3 Acute monoblastic and monocytic leukaemia
ICD-Morpho	9732/3 Plasma cell myeloma / Multiple myeloma
Atlas_Id	1818
	Figure 1. Partial karyotypes showing the unbalanced rearrangement between chromosome Y and 1. Fluorescence hybridization with LSI X/Y probe (Abott molecular/Vysis, US) showing the der(Y) chromosome (A) and 2 copies of the derivative chromosome (B) on metaphase and interphase cell.

Clinics and Pathology

Disease	Myeloid disorders mainly, rarely B-cell lymphoid malignancies.
Note	Chronic myeloid neoplasm in 15 patients (15 males aged 15 to 75 years; median 63 years). Among them, there were 7 cases of myelodysplastic syndrome (MDS) (Hollings et al., 1988; Thompsonet al., 1991; Wei et al., 1993; Raymakersetal et al.,1996; Djordjevicet al., 2008; Wan et al., 2001; Sanford et al., 2015), 1 polycythemia vera (Testa et al., 1981), 1 idiopathic myelofibrosis (Michaux et a., l 1996), 1 post-polycythemic myelofibrosis (Manabe et al., 2013), 1 essential thrombocythemia (Lim et al.,2016), 3 chronic myelomonocytic leukemia (Hollings et al., 1988; Michaux et al., 1996; Chen et al., 2010) and 1 atypical chronic myeloid leukemia (Ohsaka & Hisa 2002). Acute myeloid leukemia in 5 (aged 0 to 86 years, median 63 years): 2 acute myeloblastic leukemia with maturation (AML-M2) (Haupt et al., 1991; Singh et al., 1993), 2 acute myelomonocytic leukemia (AML- M4) (Bao et al., 2006; Brown et al., 2012) and 1 acute monoblastic leukemia (AML-M5) (Tuborgh et al., 2013). ). Acute lymphoblastic leukemia in 2 pediatric patients aged 0 and 10 years (Dayton et al.,1994; Heerema et al., 1999). ). Multiple myeloma in 3 (1 aged 73 years, 2 unknown age) (Mugneret et al., 1995; Wang et al., 2010; Sawyer et al., 2014) and). Mature B-cell neoplasm in 4 (aged 10,11,36 and 60 years) (Tanaka et al., 1990; Dayton et al., 1994; Lones et al., 2004; Havelange et al., 2013).
Epidemiology	About 28 male patients harboring der(Y)t(Y;1)(q11-12;q12-21) have been reported (aged 1 to 86 years, median 60 years). Among them, there were 7 pediatric patients aged 0 to 15 years (median 10 years).
Prognosis	The acquisition of an unbalanced 1q rearrangement in patients with myeloid malignancies appears to be a late event associated with disease transition and poor response to treatment. der(Y)t(Y;1) in multiple myeloma and lymphoid malignancies is part of complex karyotypes with coexisting other high-risk genetic abnormalities such as 11q23 and 8q24 rearrangements that have an additional impact leading to shorter survival in these patients.

Cytogenetics

Cytogenetics Morphological

Unbalanced translocation; a trisomic 1q juxtaposed to Yq12-21 replacing the terminal segment of chromosome Y.

Additional anomalies

Sole karyotype aberration in 10 patients, while it was accompanied by a limited number of additional chromosomal changes in 5 myeloid malignancies: +9 in 2 and +8, del(20q), del(11)(q13) sole cases. Found with 11q23 rearrangements as part of complex karyotypes in 2 AML patients. Association with t(8;14)(q24;q32)/8q24 rearrangement in 1 ALL in all the 4 patients with mature B-cell neoplasm; highly complex rearrangements in MM.

Result of the chromosomal anomaly

Fusion Protein

Oncogenesis

Complete or partial trisomies of 1q are well-known in hematological malignancies, but involvements of sex chromosomes are uncommon. Among them, der(Y)t(Y;1)(q11-12;q12-21) is most common in chronic myeloproliferative disorders, but cases of other diseases, such as AML or Burkitt's lymphoma have also been reported. While it is unknown which genes on 1q are responsible for the development and/or progression of these diseases, it is likely that 1q trisomy results in deregulation of several genes implicated in leukemogenesis.

Bibliography

Prospective study of 174 de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations

Bao L, Wang X, Ryder J, Ji M, Chen Y, Chen H, Sun H, Yang Y, Du X, Kerzic P, Gross SA, Yao L, Lv L, Fu H, Lin G, Irons RD

Eur J Haematol 2006 Jul;77(1):35-45

PMID 16573742

Prognosis of patients with t(8;16)(p11;p13) acute myeloid leukemia

Brown T, Swansbury J, Taj MM

Leuk Lymphoma 2012 Feb;53(2):338-41

PMID 21846182

Analyses on clinical characteristic and prognoses of 41 patients with chronic myelomonocytic leukemia in China

Chen B, Ma Y, Xu X, Wang X, Qin W, Ji M, Lin G

Leuk Res 2010 Apr;34(4):458-62

PMID 19631982

L3 acute lymphoblastic leukemia

Dayton VD, Arthur DC, Gajl-Peczalska KJ, Brunning R

Comparison with small noncleaved cell lymphoma involving the bone marrow Am J Clin Pathol

PMID 8116566

Pattern of trisomy 1q in hematological malignancies: a single institution experience

Djordjević V, Dencić-Fekete M, Jovanović J, Drakulić D, Stevanović M, Janković G, Gotić M

Cancer Genet Cytogenet 2008 Oct;186(1):12-8

PMID 18786437

Cytogenetics of infantile leukemias and its correlations with bio-clinical features

Haupt R, Comelli A, Garré ML, Defferrari R, Fugazza G, Basso G, Rosanda C, Sessarego M, Sansone R

The "G Gaslini" Children's Hospital experience over a 9-year period

PMID 1937167

Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement

Havelange V, Ameye G, Théate I, Callet-Bauchu E, Mugneret F, Michaux L, Dastugue N, Penther D, Barin C, Collonge-Rame MA, Baranger L, Terré C, Nadal N, Lippert E, Laï JL, Cabrol C, Tigaud I, Herens C, Hagemeijer A, Raphael M, Libouton JM, Poirel HA; GFCH (Groupe Francophone de Cytogénétique Hématologique)

Genes Chromosomes Cancer 2013 Jan;52(1):81-92

PMID 23012230

Cytogenetic studies of infant acute lymphoblastic leukemia: poor prognosis of infants with t(4;11) - a report of the Children's Cancer Group

Heerema NA, Sather HN, Ge J, Arthur DC, Hilden JM, Trigg ME, Reaman GH

Leukemia 1999 May;13(5):679-86

PMID 10374870

An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes

Hollings PE, Giles LM, Rosman I, Fitzgerald PH

Cancer Genet Cytogenet 1988 Sep;34(2):285-93

PMID 3165704

A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia.

Lim HH, Choi JM, Kim BR, Woo KS, Kim KH, Kim JM, Kim SH, Han JY.

Lab Med Online 2016 July 6, 3: 183-186.

Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08

Lones MA, Sanger WG, Le Beau MM, Heerema NA, Sposto R, Perkins SL, Buckley J, Kadin ME, Kjeldsberg CR, Meadows A, Siegel S, Finlay J, Bergeron S, Cairo MS; Children's Cancer Group Study CCG-E08

J Pediatr Hematol Oncol 2004 Mar;26(3):169-78

PMID 15125609

A rare der(Y)t(Y;1)(q12;q12) in a patient with post-polycythemic myelofibrosis: a case report

Manabe M, Takeda O, Okita J, Takakuwa T, Harada N, Nakano H, Okamoto S, Aoyama Y, Kumura T, Ohta T, Furukawa Y, Mugitani A

Am J Blood Res 2013 May 5;3(2):186-90

PMID 23675569

Translocation (Y;1)(q12;q12) in hematologic malignancies

Michaux L, Wlodarska I, Vellosa ER, Verhoef G, Van Orshoven A, Michaux JL, Scheiff JM, Mecucci C, Van den Berghe H

Report on two new cases, FISH characterization, and review of the literature Cancer Genet Cytogenet

PMID 8616783

Der(16)t(1;16)(q10;p10) in multiple myeloma: a new non-random abnormality that is frequently associated with Burkitt's-type translocations

Mugneret F, Sidaner I, Favre B, Manone L, Maynadié M, Caillot D, Solary E

Leukemia 1995 Feb;9(2):277-81

PMID 7869764

Spectral karyotyping refined the identification of a der(Y)t(Y;1)(q11

Ohsaka A, Hisa T

1 or 2;q12) in the blast cells of a patient with atypical chronic myeloid leukemia

Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia

Raymakers R, Stellink F, Geurts van Kessel A

Cancer Genet Cytogenet 1996 May;88(1):83-5

PMID 8630987

Jumping Translocations in Myeloid Malignancies Associated With Treatment Resistance and Poor Survival

Sanford D, DiNardo CD, Tang G, Cortes JE, Verstovsek S, Jabbour E, Ravandi F, Kantarjian H, Garcia-Manero G

Clin Lymphoma Myeloma Leuk 2015 Sep;15(9):556-62

PMID 26141213

Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease

Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B

Blood 2014 Apr 17;123(16):2504-12

PMID 24497533

Translocation (Y;1)(q12;q21) in acute leukemia

Singh S, Wass J, Devaraj J, Young G, Vincent P

Cancer Genet Cytogenet 1993 Oct 15;70(2):136-9

Reciprocal t(14;19)(q32

Tanaka S, Nishigaki H, Nakagawa H, Okuda T, Nishida K, Tsuda S, Taniwaki M, Imanishi H, Misawa S, Kashima K, et al

3;q13 1) in a patient with B-cell lymphoma

PMID 2208056

Karyotypic patterns and their clinical significance in polycythemia vera

Testa JR, Kanofsky JR, Rowley JD, Baron JM, Vardiman JW

Am J Hematol 1981;11(1):29-45

PMID 6943932

Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome

Thompson PW, Standen GR, Geddes AD

Cancer Genet Cytogenet 1991 Apr;52(2):201-2

PMID 2021922

Complex three-way translocation involving MLL, ELL, RREB1, and CMAHP genes in an infant with acute myeloid leukemia and t(6;19;11)(p22

Tuborgh A, Meyer C, Marschalek R, Preiss B, Hasle H, Kjeldsen E

2;p13 1;q23

PMID 23735562

Association between der(Y)t(Y;1)(q12;q12) and myelodysplastic syndrome.

Wan TSK, Ma SK, Chan LC, Au WY.

Cancer Genet Cytogenet 2001; 124 : 84-85.

cThe clinical and experimental analyses of a multiple myeloma patient with derivative der(Y;1).

Wang T, Qiu JY, Ma XL, Jia XP, Wang YP, Yu HJ, Li H, Tong CR.

Chinese journal of medical genetics 2010 Apr;27(2):214-6.

der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome

Wei DC, Wan TS, Chan LC, Cheng PN

Cancer Genet Cytogenet 1993 Oct 15;70(2):155-6

PMID 8242602

Citation

This paper should be referenced as such :

Zamecnikova A

der(Y)t(Y;1)(q11-12;q12-21);

Atlas Genet Cytogenet Oncol Haematol. in press

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