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(Paper co-edited with the European LeukemiaNet)
A new case of acute lymphoblastic leukemia with der(X)t(X;8)(q28;q11.2)
Written2016-07Tatiana Gindina, Nikolay Mamayev, Vadim Baykov, Olga Slesarchuk, Tatiana Rudakova, Elena Babenko, Boris Afanasyev
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;
Age and sex : 19 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; enlarged lymph nodes (Few reddish skin nodules 5-7 mm in diameter); central nervous system involvement (A tumor-forming mass located in temporal lobe of brain at post-transplant relapse.);
WBC : 17 x 109/L ; Hb : 9.0 g/dL ; platelets : 296 x 109/L; blasts : No % (blasts.).
Bone marrow : Bone marrow smears showed hypercellular bone marrow with 54.4% blasts. They were negative for myeloperoxidase, whereas most of them positive for PAS stain. The cytoplasm of blasts was narrow and basophilic. Blasts had rounded nucleus and finely dispersed chromatin with well-contoured nucleoli. Erythropoiesis and myelopoiesis were decreased. Erythropoiesis had signs of megaloblastosis. Megakaryocytopoiesis: hypolobular and polyploid megakaryocytes.
Cyto pathology classification
Phenotype : B-ALL
Immunophenotype : Positive for CD34, CD10, CD19, CD20, CD38.
Rearranged Ig Tcr : Not performed.
Pathology : Histopathology of the skin nodules was remarkable for interstitially located groups of small- and middle-sized lymphoid blast-like cells, which were positive for TdT, PAX-5, CD20, CD10, negative for T-cell and myeloid markers and had a very high proliferation rate (Ki-67 index above 90 %). C-myc oncogene product was additionally assessed with immunohistochemistry (clone Y69). Over 90% of blast cells in the skin appeared to be positive for ?-myc, although staining pattern was markedly heterogeneous. The brain tissue (at post-transplant relapse) contained a dense cellular infiltrate composed of middle-sized PAS-positive blasts with oval or round nuclei, containing 2-3 small nucleoli. Tumor cells were uniformly positive for TdT, CD19, PAX-5, and CD79a and had a very high Ki-67 proliferation index. C-myc oncogene product was demonstrated in over 85% of cells with heterogeneous staining pattern, compatible with indirect c-myc up-regulation.
Electron microscopy : Not performed.
Precise diagnosis : Common acute lymphoblastic leukemia.
Date of diagnosis: 09-2012
Treatment : Treatment was started according to ALL-2009 protocol, containing Daunorubicin, VIncristine and L-asparaginase. CNS prophylaxis therapy consisted intrathecal treatment, whereas cranial irradiation was not used.
Complete remission was obtained
Comments : Complete remission was achieved on 11/2012
Treatment related death : -
Relapse : + Complex medullar and CNS extramedullary relapses were diagnosed repeatedly on 10 and 13 months after remission. The patient received allogeneic HSCT on 04/2014. Complete remission was achieved on 06/2014. Isolated post-transplant CNS relapse was diagnosed on 11/2014.
Phenotype at relapse : Positive for CD34, CD10, CD19, CD20, CD38.
Status : Dead
Survival : 29 month(s)
Sample : Bone marrow aspirate, brain tumor mass (by stereotactic brain biopsy at post-transplant relapse). ; culture time : 24 h, without stimulating agents. ; banding : GTG
Results : 45,Y,der(X)t(X;8)(q28;q11.2)[20]
Karyotype at relapse : 45,Y,der(X)t(X;8)(q28;q11.2)[20]
Other molecular cytogenetics technics : Fluorescence in situ hybridisation (FISH) with whole painting probes for 8 and X chromosomes (Metasystems, Germany). Multicolor banding, using a multicolor probe for chromosome 8 (Metasystems, Germany).
Other molecular cytogenetics results : The unbalanced translocation der(X)t(X;8)(q28;q11.2) was revealed in all metaphases.
Other molecular studies
technics : RT-PCR
results : Leukemic cells were negative for t(1;19)E2A-PBX1, del(1)SIL-TAL1, t(12;21) TEL-AML1, and t(9;22) BCR-ABL.
FIGURE 1 Histopathological findings in tumor-forming ALL relapse in the brain. Neoplastic cells with lymphoblastic morphology form diffuse dense infiltrate in the brain tissue (A), they are uniformly positive for TdT (B), CD19 (C), and heterogeneously express c-myc (D). Hematoxylin and eosin staining, 400× original magnification (A); IHC for TdT, 400? original magnification (B); IHC for CD19, 200× original magnification (C); IHC for c-myc 400× original magnification (D).
FIGURE 2 GTG-banded karyotype showing the derivative der(X)t(X;8)(q28;q11.2)
FIGURE 3 GTG-banding showing the derivative X chromosome; FISH with whole painting probes showing two normal chromosomes 8 (green color) and the derivative der(X)t(X;8) (red and green colors). Multicolor banding of two normal chromosomes 8 and the derivative X chromosome.
Here we report a new case of ALL with extremely rare abnormality der(X)t(X;8)(q28;q11.2), which resulted in a partial 8q trisomy. At the first time a case with der(X)t(X;8)(q28;q11.2) was reported in a 4-year-old child with Ph-positive ALL who has not achieved complete continuous remission [Kaleem et al, 2000]. This patient had other recurrent chromosomal abnormalities, such as t(8;14)(q11.2;q32), t(9;22)(q34;q11) and add(17)(p13). It allows to consider, that the der(X)t(X;8) might be a secondary genetic event. As for our finding is concerned, it seems to be primary event, which is responsible for post-transplant isolated CNS relapse.
Identical chromosome abnormalities in leukemic cells at diagnosis and in the cells from brain tumor-forming relapse support the origin of both from common leukemic clone. c-Myc is one of the genes located on 8q which may be implicated in disease biology. Immunohistochemical staining for c-myc protein showed positivity of >85% of leukemic cells (at disease onset and at relapse), although with markedly heterogeneous staining pattern, compatible with indirect c-myc up-regulation. The latter, in turn, could increase proliferative potential of leukemic cells as well as their resistance to chemotherapy. Finally, trisomy 8 in ALL patients is considered to be indicative of poor prognosis [Garipidou et al, 1990].
Call for collaboration
MD, PhD Tatiana Gindina, Cytogenetics Laboratory; R.M. Gorbacheva Research Institute of Pediatric Oncology, Hematology and Transplantation at First Saint-Petersburg State Medical University named I.P.Pavlov, Russia; Leo Tolstoi Str., 6/8, Saint-Petersburg, Russia, 197022 Tel/Fax: + 7 (812) 338-62-65
Internal links
Atlas Cardt(X;8)(q28;q11)
Trisomy 8 in acute lymphoblastic leukemia (ALL): A case report and update of the literature.
Garipidou V, Ysamada T, Grant Prentice H.
Leukemia. 1990;4:717-9
PMID 2214875
Acute lymphoblastic leukemia with an unusual t(8;14)(q11.2;q32): a Pediatric Oncology Group study.
Kaleem Z, Shuster JJ, Borowitz MJ.
Leukemia. 2000;14:238-240
PMID 10673739


This paper should be referenced as such :
Gindina T, Mamayev N, Baykov V, Slesarchuk O, Rudakova T, Babenko E, Afanasyev B
A new case of acute lymphoblastic leukemia with der(X)t(X;8)(q28;q11.2)
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

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