Variant Philadelphia t(X;9;22)(q22?;q34;q11.2) can be successfully treated with second generation tyrosine kinase inhibitors: A case report and literature review.

Philadelphia chromosome X chromosome chronic myeloid leukemia nilotinib variant translocation

Journal

Biomedical reports
ISSN: 2049-9442
Titre abrégé: Biomed Rep
Pays: England
ID NLM: 101613227

Informations de publication

Date de publication:
Oct 2021
Historique:
received: 24 06 2018
accepted: 28 05 2021
entrez: 13 9 2021
pubmed: 14 9 2021
medline: 14 9 2021
Statut: ppublish

Résumé

Chronic myeloid leukemia (CML) is characterized by the reciprocal translocation between chromosomes 9 and 22: t(9;22)(q34;q11). However, 5-10% of patients with CML have complex variant translocations involving at least a third chromosome; only a few cases affect the X chromosome. Therefore, the data available regarding their features and the response to treatment is limited. In the present report, a case of a variant Philadelphia translocation t(X;9;22)(q22?;q34;q11.2) identified in a 51-year-old female with a newly diagnosed CML is described. The patient was treated with nilotinib. A major molecular response was observed after 12 months of starting treatment. Deep molecular response was obtained 20 months later and maintained after the 110-month follow-up. Additionally, a literature review was performed, with the aim of comprehending the complex clinical and biological characteristics of CML cytogenetic variants involving the X chromosome.

Identifiants

pubmed: 34512971
doi: 10.3892/br.2021.1459
pii: BR-0-0-01459
pmc: PMC8411485
doi:

Types de publication

Case Reports

Langues

eng

Pagination

83

Informations de copyright

Copyright: © Iglesias et al.

Déclaration de conflit d'intérêts

The authors declare that they have no competing interests.

Références

Cancer Genet Cytogenet. 1988 Oct 15;35(2):179-97
pubmed: 3180020
Leukemia. 2020 Apr;34(4):966-984
pubmed: 32127639
Acta Oncol. 2010 May;49(4):506-8
pubmed: 20331405
Blood. 2011 Jul 21;118(3):686-92
pubmed: 21536864
Blood. 2013 Aug 8;122(6):872-84
pubmed: 23803709
Leukemia. 2015 May;29(5):999-1003
pubmed: 25652737
Leukemia. 1999 Dec;13(12):1901-28
pubmed: 10602411
Leuk Res Treatment. 2011;2011:592519
pubmed: 23213545
Clin Lymphoma Myeloma Leuk. 2017 Jan;17(1):52-59
pubmed: 27743980
Mol Cancer. 2010 May 25;9:120
pubmed: 20500819
J Assoc Genet Technol. 2019;45(2):61-65
pubmed: 31189151
Am J Hematol. 2018 Mar;93(3):442-459
pubmed: 29411417
Ann Hematol. 2015 Apr;94 Suppl 2:S107-21
pubmed: 25814077
Leukemia. 2003 Dec;17(12):2474-86
pubmed: 14562124
Cancer Genet Cytogenet. 1990 Feb;44(2):181-6
pubmed: 2297676
J Natl Cancer Inst. 1998 Jun 3;90(11):850-8
pubmed: 9625174
Oncol Lett. 2019 Jun;17(6):5705-5710
pubmed: 31186796
J Assoc Genet Technol. 2011;37(2):69-75
pubmed: 21654069
Blood. 2011 Jun 23;117(25):6793-800
pubmed: 21447834
Leukemia. 2003 Dec;17(12):2318-57
pubmed: 14562125
Bull World Health Organ. 2001;79(4):373-4
pubmed: 11357217
Hereditas. 1978;89(2):207-32
pubmed: 730541
Hum Mutat. 2012 Jun;33(6):906-15
pubmed: 22415865
J Clin Med. 2020 Nov 16;9(11):
pubmed: 33207600
Haematol Blood Transfus. 1981;26:160-6
pubmed: 6947929
Cancer Genet Cytogenet. 2009 Oct;194(1):30-7
pubmed: 19737651
Ann Clin Lab Sci. 2011 Fall;41(1):71-8
pubmed: 21325259
BMC Med. 2011 Aug 26;9:99
pubmed: 21867560
Cancer Genet Cytogenet. 1994 Mar;73(1):57-9
pubmed: 8174075
J Clin Oncol. 2011 Nov 10;29(32):4260-5
pubmed: 21990394
Cancer Genet Cytogenet. 1993 Oct 15;70(2):103-7
pubmed: 8242587
Ann Hematol. 2013 Jan;92(2):185-9
pubmed: 23064942
Br J Haematol. 1979 Feb;41(2):185-91
pubmed: 284790
Blood. 1984 Apr;63(4):789-99
pubmed: 6584184
Ann Hematol. 2015 Apr;94 Suppl 2:S241-7
pubmed: 25814090
Br J Haematol. 2004 Apr;125(2):187-95
pubmed: 15059141
Cancer Genet Cytogenet. 2007 Mar;173(2):97-106
pubmed: 17321324
Br J Haematol. 1981 Apr;47(4):571-5
pubmed: 7213577

Auteurs

Ana Iglesias (A)

Clinical Genetics Unit, Clinical Analysis Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlos, Madrid 28040, Spain.

Raluca Oancea (R)

Clinical Genetics Unit, Clinical Analysis Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlos, Madrid 28040, Spain.

Carmen Cotarelo (C)

Clinical Genetics Unit, Clinical Analysis Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlos, Madrid 28040, Spain.

Eduardo Anguita (E)

Hematology Department, Instituto de Medicina de Laboratorio, IdISSC, Hospital Clínico San Carlos, Madrid 28040, Spain.
Department of Medicine, Complutense University (UCM), Madrid 28040, Spain.

Classifications MeSH