Written | 2016-12 | 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)(p10) in female patients |
Keywords | Chromosome X; Acute lymphoblastic leukaemia, Chronic myelogenous leukaemia; hronic myelomonocytic leukaemia; Refractory anaemia, Myelodysplastic syndrome; Therapy-related myeloid neoplasms, Acute myeloid leukaemia; Nodular sclerosis classical Hodgkin lymphoma; Mantle cell lymphoma |
Identity |
ICD-Topo | C420,C421,C424 |
ICD-Morpho | 9811/3 B lymphoblastic leukaemia/lymphoma, NOS |
ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
ICD-Morpho | 9945/3 Chronic myelomonocytic leukaemia |
ICD-Morpho | 9980/3 Refractory anemia |
ICD-Morpho | 9982/3 Refractory anemia with ring sideroblasts associated with marked thrombocytosis; Refractory anaemia with ring sideroblasts |
ICD-Morpho | 9983/3 Refractory anaemia with excess blasts |
ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
ICD-Morpho | 9873/3 AML without maturation |
ICD-Morpho | 9874/3 AML with maturation |
ICD-Morpho | 9867/3 Acute myelomonocytic leukaemia |
ICD-Morpho | 9663/3 Nodular sclerosis classical Hodgkin lymphoma |
ICD-Morpho | 9673/3 Mantle cell lymphoma |
Atlas_Id | 1500 |
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Figure 1 Partial karyotype with extra i(X)(p10) | |
Clinics and Pathology |
Disease | i(X)(p10) occurs in a wide spectrum of hematologic malignancies, in both myeloid and lymphoid disorders, including MDS, CMML, CML, de novo and therapy-related AML, ALL, NHL and Hodgkin lymphoma. Myelodysplastic syndrome (MDS) was diagnosed in 7 patients (Adeyinka et al., 2007), 2 of them with refractory anaemia with ring sideroblasts (RARS) (Knuutila et al., 1984; Dewald et al., 1989), one patient with refractory anaemia (RA) (Adeyinka et al., 2007) and one with refractory anaemia with excess blasts (RAEB)(Sato et al., 2002). Chronic myelomonocytic leukaemia (CMML): 3 patients (MacGrogan et al., 2004; Chen et al., 2010; Nacheva et al., 1995). Chronic myeloid leukemia (CML): 2 patients (Selleri et al., 1989; Barbouti et al., 2002). Acute myeloid leukemia (AML): there were 8 patients with different variants of AML: 1 AML-M1 (Fitzerald et al., 1983), 1 AML-M2 (Dewald et al., 1989), 1 AML-M4 (Bao et al., 2006), 2 therapy-related AML (Preiss et al., 2010; Adeyinka et al., 2007). Acute lymphoblastic leukemia (ALL): 3 patients. Two of them with relapse after chemotherapy (Adeyinka et al., 2007) and allo-HSCT (Gindina, own case, table 1, #23), one patient with Down syndrome (Baker et al., 2003). Hodgkin lymphoma, nodular sclerosis (HL) was diagnosed in 2 patients (Falzetti et al., 2005; Schlegelberger et al., 1994). Non Hodgkin lymphoma (NHL): 1 patient (Temperani et al., 1995). Mantle cell lymphoma (MCL): 1 patient (Gindina, own case, table 1, #25). Cytopenias: 3 patients (Adeyinka et al., 2007), 2 of them with anaemia, one with thrombocytopenia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidemiology | i(X)(p10) is observed as the sole abnormality in myeloid malignancies and has been demonstrated in females of advanced age. Nonetheless, this abnormality has been observed seldom in younger patients with AML, ALL, Hodgkin lymphoma, NHL. The median age of female patients is 60 years (range, 3 - 83 years). Table 1. Reported cases with i(X)(q10).
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Prognosis | Survival was 8, 25 months (Dewald et al, 1989, cases # 15, #4) and 11+, 12+ months (Gindina, cases #25, #23 , table 1) in the four cases where information was provided. |
Cytogenetics |
Note | There is a problem of distinguishing i(X)(p10) from del(X)(q24) because of the similarity of X p-arm band pattern and X q-arm band pattern extending from the centromere to band Xq24. |
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Figure 2. Partial karyotypes with extra i(X)(p10); Fluorescence in situ hybridization (FISH) with BreakApart CRLF2/Xp22.33 (CytoCell, UK) showing two normal X chromosomes and extra i(X)(p10) (4 fusion signals on interphase cells) in female patient with post-transplant relapse of ALL (Gindina, #23, table 1) | |
Probes | CRLF2 BreakApart (CytoCell, UK) |
Additional anomalies | Sole abnormality in 11 patients, mostly in myeloid neoplasms (4 MDS, 3 AML, 2 CMML). Double extra i(X)(p10) was present in 4 patients (Selleri et al., 1989; Adeyinka et al., 2007; Hagemeier et al., 1981; Fitzerald et al., 1983). Additional chromosome anomalies were observed in 2/3 patients. Associated in combination with extra chromosome 8 in 5 females (Barbouti et al., 2002; Hagemeier et al., 1981; Dewald et al., 1989; Adeyinka et al., 2007), idic(X)(q13) in 2 (Dewald et al., 1989), del(20q) in 3 (Nacheva et al., 1995; Preiss et al., 2010; Falzetti et al., 1999), extra chromosome 20in 2 (Hagemeier et al., 1981;), loss of chromosome 7 in 2 (Lugthart et al., 2010; Schlegelberger et al. 1994), del(7q) in 2 (Falzetti et al., 1999; Schlegelberger et al. 1994), ring chromosome in 2 (Adeyinka et al., 2007; Temperani et al, 1995), other isochromosomes in 3 (Barbouti et al., 2002; Schlegelberger et al. 1994, Adeyinka et al., 2007). In lymphoid malignancies, i(X)(p10) is part of a complex karyotype and seems to be a secondary event. |
Result of the chromosomal anomaly |
Oncogenesis | The pathogenetic importance of i(X)(p10) is underscored by its presence as the sole acquired anomaly. The major consequence of this abnormality is loss of the X q-arm and gain of the X p-arm, this would translate to loss of several genes on Xq and gain of several genes on Xp, that leads to genetic imbalance. I(X)(p10) has been reported in occasional males, indicating that this aberration can arise from active X chromosomes. It is not known whether this anomaly arises randomly from the active or inactive X chromosome in female patients (Adeyinka et al, 2007). |
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Citation |
This paper should be referenced as such : |
Gindina T |
i(X)(p10) in female patients; |
Atlas Genet Cytogenet Oncol Haematol. in press |
On line version : http://AtlasGeneticsOncology.org/Anomalies/iXp10FemaleID1500.html |
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