Limits...
A case of pentasomy 21 with two isochromosome 21s in acute megakaryoblastic leukemia associated with Down syndrome.

Park Y, Lim J, Ko YH, Kim J, Kwon GC, Koo SH - Ann Lab Med (2015)

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Korea.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Isodicentric chromosome 21 is a rare but recurrent cytogenetic abnormality in acute leukemia patients ; however, pentasomy 21q with two isochromosome 21s is very rare and has not yet been reported in pediatric DS patients with acute megakaryoblastic leukemia (AMKL)... Cytogenetic analysis revealed a 49,XX,+11,+19,+21c,der(21;21)(q10;q10)c,+der (21;21)[19]/46,XX,+21c,der(21;21)c[9] karyotype, per the International System for Human Cytogenetic Nomenclature (ISCN) 2013... FISH confirmed pentasomy 21 (Fig. 2)... She received conservative therapy, and one month later, the disease progressed such that the peripheral blood presented 15% blasts... The patient was transferred to another hospital where she was diagnosed as having DS-associated AML... We identified pentasomy 21 with two isochromosome 21s in DS-associated transient abnormal myeloproliferative disorder, which was later transformed into AMKL... Transient myeloproliferative disorder occurs in ~10% of newborns with DS, and non-transient AML develops one to three years later in ~20-30% of such cases... Fifty percent of cases of DS-associated acute leukemia are usually AMKL... Furthermore, the duplication of idic(21)(p10;p10) gave rise to pentasomy 21q and to amplification of oncogenes at 21q, such as RUNX, ETS, and ERG, which may be involved in the development of leukemia... Moreover, the MLL gene gain due to trisomy 11, might be associated with the poor prognosis in this particular patient... To date, 16 cases of pentasomy 21 with two isochromosomes have been reported in hematologic malignancies, but the clinical features common to these cases are unknown... This case shows us that hematologic surveillance of peripheral blood is needed in DS newborns, and close follow-up as well as optimal molecular and cytogenetic studies should be performed in cases with abnormal peripheral blood findings... Clarification of the mechanism underlying myelofibrosis and leukemogenesis in pentasomy 21q with two isochromosomes, in myeloid leukemia associated with DS, requires further studies.

No MeSH data available.


Related in: MedlinePlus

(A) Bone marrow needle biopsy specimen, showing grade 3 fibrosis (H&E stain, ×100). (B) Reticulin staining showing grade 3 fibrosis (Reticulin stain, ×200).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4390710&req=5

Figure 1: (A) Bone marrow needle biopsy specimen, showing grade 3 fibrosis (H&E stain, ×100). (B) Reticulin staining showing grade 3 fibrosis (Reticulin stain, ×200).

Mentions: Five months later, a follow-up CBC revealed leukoerythroblastic reaction, and a physical examination revealed hepatosplenomegaly. Bone marrow study revealed persistent megakaryocytic hyperplasia and grade 3 fibrosis (Fig. 1). Cytogenetic analysis revealed a 49,XX,+11,+19,+21c,der(21;21)(q10;q10)c,+der (21;21)[19]/46,XX,+21c,der(21;21)c[9] karyotype, per the International System for Human Cytogenetic Nomenclature (ISCN) 2013. FISH confirmed pentasomy 21 (Fig. 2). JAK2 mutation and BCR/ABL fusion were not detected. She received conservative therapy, and one month later, the disease progressed such that the peripheral blood presented 15% blasts. The patient was transferred to another hospital where she was diagnosed as having DS-associated AML. The blast count was 30% on the bone marrow aspirate, and the immunophenotype of the neoplastic cells was characteristic of megakaryoblasts: CD13+, CD33+, CD34+, CD64w+, CD117+, CD41w+, CD7+, HLA-DR+, MPO-, and nTdT-. GATA1 mutation was not detected; however, an additional trisomy 11-associated MLL gain was detected by FISH. Calreticulin gene mutation test was not performed. The patient underwent cytarabine plus daunorubicin induction chemotherapy but failed to respond to the treatment and expired six months later.


A case of pentasomy 21 with two isochromosome 21s in acute megakaryoblastic leukemia associated with Down syndrome.

Park Y, Lim J, Ko YH, Kim J, Kwon GC, Koo SH - Ann Lab Med (2015)

(A) Bone marrow needle biopsy specimen, showing grade 3 fibrosis (H&E stain, ×100). (B) Reticulin staining showing grade 3 fibrosis (Reticulin stain, ×200).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4390710&req=5

Figure 1: (A) Bone marrow needle biopsy specimen, showing grade 3 fibrosis (H&E stain, ×100). (B) Reticulin staining showing grade 3 fibrosis (Reticulin stain, ×200).
Mentions: Five months later, a follow-up CBC revealed leukoerythroblastic reaction, and a physical examination revealed hepatosplenomegaly. Bone marrow study revealed persistent megakaryocytic hyperplasia and grade 3 fibrosis (Fig. 1). Cytogenetic analysis revealed a 49,XX,+11,+19,+21c,der(21;21)(q10;q10)c,+der (21;21)[19]/46,XX,+21c,der(21;21)c[9] karyotype, per the International System for Human Cytogenetic Nomenclature (ISCN) 2013. FISH confirmed pentasomy 21 (Fig. 2). JAK2 mutation and BCR/ABL fusion were not detected. She received conservative therapy, and one month later, the disease progressed such that the peripheral blood presented 15% blasts. The patient was transferred to another hospital where she was diagnosed as having DS-associated AML. The blast count was 30% on the bone marrow aspirate, and the immunophenotype of the neoplastic cells was characteristic of megakaryoblasts: CD13+, CD33+, CD34+, CD64w+, CD117+, CD41w+, CD7+, HLA-DR+, MPO-, and nTdT-. GATA1 mutation was not detected; however, an additional trisomy 11-associated MLL gain was detected by FISH. Calreticulin gene mutation test was not performed. The patient underwent cytarabine plus daunorubicin induction chemotherapy but failed to respond to the treatment and expired six months later.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Chungnam National University Hospital, Daejeon, Korea.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Isodicentric chromosome 21 is a rare but recurrent cytogenetic abnormality in acute leukemia patients ; however, pentasomy 21q with two isochromosome 21s is very rare and has not yet been reported in pediatric DS patients with acute megakaryoblastic leukemia (AMKL)... Cytogenetic analysis revealed a 49,XX,+11,+19,+21c,der(21;21)(q10;q10)c,+der (21;21)[19]/46,XX,+21c,der(21;21)c[9] karyotype, per the International System for Human Cytogenetic Nomenclature (ISCN) 2013... FISH confirmed pentasomy 21 (Fig. 2)... She received conservative therapy, and one month later, the disease progressed such that the peripheral blood presented 15% blasts... The patient was transferred to another hospital where she was diagnosed as having DS-associated AML... We identified pentasomy 21 with two isochromosome 21s in DS-associated transient abnormal myeloproliferative disorder, which was later transformed into AMKL... Transient myeloproliferative disorder occurs in ~10% of newborns with DS, and non-transient AML develops one to three years later in ~20-30% of such cases... Fifty percent of cases of DS-associated acute leukemia are usually AMKL... Furthermore, the duplication of idic(21)(p10;p10) gave rise to pentasomy 21q and to amplification of oncogenes at 21q, such as RUNX, ETS, and ERG, which may be involved in the development of leukemia... Moreover, the MLL gene gain due to trisomy 11, might be associated with the poor prognosis in this particular patient... To date, 16 cases of pentasomy 21 with two isochromosomes have been reported in hematologic malignancies, but the clinical features common to these cases are unknown... This case shows us that hematologic surveillance of peripheral blood is needed in DS newborns, and close follow-up as well as optimal molecular and cytogenetic studies should be performed in cases with abnormal peripheral blood findings... Clarification of the mechanism underlying myelofibrosis and leukemogenesis in pentasomy 21q with two isochromosomes, in myeloid leukemia associated with DS, requires further studies.

No MeSH data available.


Related in: MedlinePlus