Written | 2017-02 | Tatiana Gindina |
R.M. Gorbacheva Research Institute of Pediatric Oncology Hematology and Transplantation at First Saint-Petersburg State Medical University named I.P.Pavlov, Saint-Petersburg, Russia / tatgindina@gmail.com |
Abstract | Review on i(X)(q10) in female patients. |
Keywords | Chromosome X; Acute lymphoblastic leukemia; Diffuse large B-cell lymphoma; Burkitt lymphoma; Chronic myelogenous leukemia; Myelodysplastic syndrome; Acute myeloid leukemia. |
Identity |
ICD-Topo | C420,C421,C424 |
ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
ICD-Morpho | 9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma |
ICD-Morpho | 9687/3 Burkitt lymphoma |
ICD-Morpho | 9690/3 Follicular lymphoma; Paediatric follicular lymphoma |
ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
ICD-Morpho | 9874/3 AML with maturation |
ICD-Morpho | 9896/3 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 |
Atlas_Id | 1493 |
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Figure 1. Partial karyotypes (G-banding) with i(X)(q10) | |
Clinics and Pathology |
Disease | i(X)(q10) occurs in a variety of hematologic malignancies, in both myeloid and lymphoid disorders, including ALL, NHL, AML, MDS and CML. Chronic myeloid leukemia (CML): 2 patients (Lyall and Garson, 1978; Karrman et al., 2007). Myelodysplastic syndrome (MDS) was diagnosed in 2 patients (Wilkens et al, 1998; Kearns et al., 2004). Acute myeloid leukemia (AML): there were 8 patients with AML-M2, six of them had translocation t(8;21)(q22;q22) (Shiraishi et al, 1982; Minamihisamatsu et al, 1988; Tien et al, 1988; Kwong et al, 1993; Ma et al, 1997; Paskulin et al, 1998). Acute lymphoblastic leukemia (ALL): was diagnosed in 6 patients. Three of them with relapse of ALL after chemotherapy (CT) (Arthur et al., 1982; Gindina T, own cases, table 1,#18, #19), two patients had unbalanced translocation t(1;19)(q23;p13) (Pui et al, 1990; Gindina T, table 1, #18), one patient had translocation t(4;11)(q21;q23) (Arthur et al, 1982). Follicular lymphoma (FL): 3 patients (Horsman et al, 2001; Fan and Rizkalla 2003). Burkitt lymphoma (BL) was diagnosed in 2 patients (Goyns et al., 1993; Trcic et al., 2010). Diffuse large B-cell lymphoma (DLBCL): 2 patients (Bloomfield et al., 1983; Dave et al, 2002). Mature B-cell neoplasm : 2 patients (Ueda et al, 1997; Adeyinka et al, 2007). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidemiology | I(X)(q10) has been observed in female patients with a median age of 27 years (range, 0,9 to 54 years). Table 1. Reported cases with i(X)(q10).
CML: Chronic myeloid leukemia; MDS: Myelodysplastic syndrome; AML: Acute myeloid leukemia; ALL: Acute lymphoblastic leukemia; FL: Follicular lymphoma; BL: Burkitt lymphoma; DLBCL: Diffuse large B-cell lymphoma; CT: chemotherapy; NOS not otherwise specified. |
Cytogenetics |
Additional anomalies | As a single anomaly, isochromosome Xq was described only in two cases of myeloid malignancies (Debiek-Rychter et al, 1985; Wilkens et al, 1998). Double extra i(X)(q10) was present in 5 patients (Ueda et al, 1997; Wilkens et al, 1998; Horsman et al, 2001; Dave et al, 2002; Pang et al, 2015). Additional chromosome abnormalities were observed in 26/28 patients. i(X)(q10) has been demonstrated in six cases with RUNX1 / RUNX1T1 AML (Shiraishi et al, 1982; Minamihisamatsu et al, 1988; Tien et al, 1988; Kwong et al, 1993; Ma et al, 1997; Paskulin et al, 1998) , two cases with TCF3 / PBX1 ALL (Pui et al, 1990; Gindina T, table 1, #18) and one case with KMT2A / AFF1 (Arthur et al, 1982). Associated in combination with other isochromosomes in 4 patients (Dave et al, 2002; Adeyinka et al, 2007; Trcic et al, 2010; Pang et al, 2015), del(9q) in 3 patients (Tien et al, 1988; Han et al, 2002; Gindina T, table 1, #19) and extra chromosome 21 in 2 (Kearns et al., 2004; Pui et al., 1992). In lymphomas, i(X)(q10) is usually part of a complex karyotype. |
Result of the chromosomal anomaly |
Oncogenesis | As a result of the formation of the isochromosome, there is the loss of a normal X chromosome, and the structural abnormality leads to monosomy for Xp and trisomy for Xq. It is not known whether the overexpression of a proto-oncogene (or other gene) or the deletion of a tumor-suppressor gene from the isochromosome contributes to development or proliferation of tumor cells in these cases. |
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Citation |
This paper should be referenced as such : |
Gindina T |
i(Xq10) in female patients; |
Atlas Genet Cytogenet Oncol Haematol. in press |
On line version : http://AtlasGeneticsOncology.org/Anomalies/iXq10FemaleID1493.html |
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