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A t(8;9)(p22;p24)/PCM1-JAK2 translocation in a patient with myeloproliferative neoplasm and myeloid sarcoma: first report in Korea.

Song I, Lee DH, Lee JH, Jang S, Huh JR, Seo EJ - Ann Lab Med (2016)

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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Dear Editor, Translocation t(8;9)(p22;p24) has been reported in diverse hematologic neoplasms, including acute leukemia, myeloproliferative neoplasm (MPN), and myelodysplastic syndromes/myeloproliferative neoplasm... The t(8;9)(p22;p24) leads to a PCM1-JAK2 fusion gene, resulting in the continuous activation of JAK2 tyrosine kinase... One week later, the patient developed left inguinal lymphadenopathy and was admitted to our hospital... A inguinal LN biopsy at our hospital also confirmed MS, and immunohistochemistry demonstrated positive results for myeloperoxidase and CD117 (Fig. 1A-C)... The lactate dehydrogenase level was 206 IU/L, and the C reactive protein level was 1.81 nmol/L... These results indicated features of MPN but did not meet specific criteria for this diagnosis; therefore, a diagnosis of "MPN, U" was made... To the best of our knowledge, this is the first report of a patient with a t(8;9)(p22;p24) in Korea and the second report associated with MPN, U worldwide... MS can develop synchronously or metachronously in a variety of hematologic malignancies, including MPN... According to one study, results of a FISH analysis of MS tissues and BM or PB karyotypes were concordant in 10 out of 14 cases... Although we did not detect the fusion gene in the LN, it is possible that this fusion gene caused the MS... In conclusion, t(8;9)(p22;p24) is rare and leads to a PCM1-JAK2 fusion gene... We report MS, concurrent with MPN, U and PCM1-JAK2 fusion gene.

No MeSH data available.


The t(8;9)(p22;p24) translocations and PCM1-JAK2 fusion gene. (A) Karyogram of bone marrow showing 46,XY,t(8;9)(p22;p24)[20]; (B) Reverse transcription-PCR product of the PCM1-JAK2 gene from bone marrow; (C) Genetic sequence and schematic representation of the chimeric PCM1-JAK2 gene.
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Figure 2: The t(8;9)(p22;p24) translocations and PCM1-JAK2 fusion gene. (A) Karyogram of bone marrow showing 46,XY,t(8;9)(p22;p24)[20]; (B) Reverse transcription-PCR product of the PCM1-JAK2 gene from bone marrow; (C) Genetic sequence and schematic representation of the chimeric PCM1-JAK2 gene.

Mentions: After 13 months, in March 2015, a chest CT revealed enlarged LNs in the right axillary and an LN gun biopsy revealed MS. One week later, the patient developed left inguinal lymphadenopathy and was admitted to our hospital. A inguinal LN biopsy at our hospital also confirmed MS, and immunohistochemistry demonstrated positive results for myeloperoxidase and CD117 (Fig. 1A-C). CBC revealed 5.8×109/L leukocytes, 7.7 g/dL hemoglobin, and 130×109/L platelets, and a PB smear showed leukoerythroblastic reaction (nucleated red blood cell [RBC]: 3/100 white blood cell [WBC]; metamyelocytes: 2%). BM aspiration indicated a normal myeloid:erythroid ratio and 3.2% eosinophils without myelodysplasia, and a biopsy confirmed hyperplasia and myelofibrosis without megakaryocytic proliferation and atypia (Fig. 1D-H). The patient tested negative for major/minor BCR-ABL1 rearrangement and JAK2, MPL, and CALR mutations were not detected. The lactate dehydrogenase level was 206 IU/L, and the C reactive protein level was 1.81 nmol/L. These results indicated features of MPN but did not meet specific criteria for this diagnosis; therefore, a diagnosis of "MPN, U" was made. The BM karyotype was 46,XY,t(8;9)(p22;p24)[20] (Fig. 2A), and reverse-transcription (RT)-PCR was performed with the following primers which we designed: PCM1 forward 5'-TAGTGCTGCCCATAAGGAGTC-3' and JAK2 reverse 5'-AGCGAACAGTTTCCATCTGGT-3'. The PCR product was directly sequenced by using Applied Biosystems 3130 Genetic Analyzers (Applied Biosystems, Foster City, CA, USA). Sanger sequencing revealed an in-frame fusion between exon 36 of PCM1 and exon 9 of JAK2 (Fig. 2B, C), which were shown in previous reports [45]. Inguinal LN culture yielded no mitotic cells for chromosome analysis, and RT-PCR of the PCM1-JAK2 fusion gene from a paraffin-embedded LN failed. Chromosomal analysis of PB showed a normal karyotype. The patient underwent chemotherapy with cytosine arabinoside and daunorubicin, and is now waiting for allogeneic hematopoietic stem-cell transplantation.


A t(8;9)(p22;p24)/PCM1-JAK2 translocation in a patient with myeloproliferative neoplasm and myeloid sarcoma: first report in Korea.

Song I, Lee DH, Lee JH, Jang S, Huh JR, Seo EJ - Ann Lab Med (2016)

The t(8;9)(p22;p24) translocations and PCM1-JAK2 fusion gene. (A) Karyogram of bone marrow showing 46,XY,t(8;9)(p22;p24)[20]; (B) Reverse transcription-PCR product of the PCM1-JAK2 gene from bone marrow; (C) Genetic sequence and schematic representation of the chimeric PCM1-JAK2 gene.
© Copyright Policy - open-access
Related In: Results  -  Collection

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Show All Figures
getmorefigures.php?uid=PMC4697351&req=5

Figure 2: The t(8;9)(p22;p24) translocations and PCM1-JAK2 fusion gene. (A) Karyogram of bone marrow showing 46,XY,t(8;9)(p22;p24)[20]; (B) Reverse transcription-PCR product of the PCM1-JAK2 gene from bone marrow; (C) Genetic sequence and schematic representation of the chimeric PCM1-JAK2 gene.
Mentions: After 13 months, in March 2015, a chest CT revealed enlarged LNs in the right axillary and an LN gun biopsy revealed MS. One week later, the patient developed left inguinal lymphadenopathy and was admitted to our hospital. A inguinal LN biopsy at our hospital also confirmed MS, and immunohistochemistry demonstrated positive results for myeloperoxidase and CD117 (Fig. 1A-C). CBC revealed 5.8×109/L leukocytes, 7.7 g/dL hemoglobin, and 130×109/L platelets, and a PB smear showed leukoerythroblastic reaction (nucleated red blood cell [RBC]: 3/100 white blood cell [WBC]; metamyelocytes: 2%). BM aspiration indicated a normal myeloid:erythroid ratio and 3.2% eosinophils without myelodysplasia, and a biopsy confirmed hyperplasia and myelofibrosis without megakaryocytic proliferation and atypia (Fig. 1D-H). The patient tested negative for major/minor BCR-ABL1 rearrangement and JAK2, MPL, and CALR mutations were not detected. The lactate dehydrogenase level was 206 IU/L, and the C reactive protein level was 1.81 nmol/L. These results indicated features of MPN but did not meet specific criteria for this diagnosis; therefore, a diagnosis of "MPN, U" was made. The BM karyotype was 46,XY,t(8;9)(p22;p24)[20] (Fig. 2A), and reverse-transcription (RT)-PCR was performed with the following primers which we designed: PCM1 forward 5'-TAGTGCTGCCCATAAGGAGTC-3' and JAK2 reverse 5'-AGCGAACAGTTTCCATCTGGT-3'. The PCR product was directly sequenced by using Applied Biosystems 3130 Genetic Analyzers (Applied Biosystems, Foster City, CA, USA). Sanger sequencing revealed an in-frame fusion between exon 36 of PCM1 and exon 9 of JAK2 (Fig. 2B, C), which were shown in previous reports [45]. Inguinal LN culture yielded no mitotic cells for chromosome analysis, and RT-PCR of the PCM1-JAK2 fusion gene from a paraffin-embedded LN failed. Chromosomal analysis of PB showed a normal karyotype. The patient underwent chemotherapy with cytosine arabinoside and daunorubicin, and is now waiting for allogeneic hematopoietic stem-cell transplantation.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Dear Editor, Translocation t(8;9)(p22;p24) has been reported in diverse hematologic neoplasms, including acute leukemia, myeloproliferative neoplasm (MPN), and myelodysplastic syndromes/myeloproliferative neoplasm... The t(8;9)(p22;p24) leads to a PCM1-JAK2 fusion gene, resulting in the continuous activation of JAK2 tyrosine kinase... One week later, the patient developed left inguinal lymphadenopathy and was admitted to our hospital... A inguinal LN biopsy at our hospital also confirmed MS, and immunohistochemistry demonstrated positive results for myeloperoxidase and CD117 (Fig. 1A-C)... The lactate dehydrogenase level was 206 IU/L, and the C reactive protein level was 1.81 nmol/L... These results indicated features of MPN but did not meet specific criteria for this diagnosis; therefore, a diagnosis of "MPN, U" was made... To the best of our knowledge, this is the first report of a patient with a t(8;9)(p22;p24) in Korea and the second report associated with MPN, U worldwide... MS can develop synchronously or metachronously in a variety of hematologic malignancies, including MPN... According to one study, results of a FISH analysis of MS tissues and BM or PB karyotypes were concordant in 10 out of 14 cases... Although we did not detect the fusion gene in the LN, it is possible that this fusion gene caused the MS... In conclusion, t(8;9)(p22;p24) is rare and leads to a PCM1-JAK2 fusion gene... We report MS, concurrent with MPN, U and PCM1-JAK2 fusion gene.

No MeSH data available.