![A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L). The blood film was consistent with chronic myelogenous leukemia (CML) with 2% blasts, basophilia (9.7%), and eosinophilia (panel A). The aspirate showed 4% blasts and the megakaryocytes (MKs) were hypolobated/monolobated, but a few dysplastic MKs with disjointed nuclei were observed (panel B). Reverse transcriptase polymerase chain reaction (RT-PCR) for BCR-ABL1 was positive. Cytogenetics and sequential metaphase G-banding to fluorescence in situ hybridization (FISH) (panels C-D) showed the following: 46,XY,der(7)t(7;12)(p22;q15), add(12)(q?14)[14].ish der(12)(12pter → 12q?15::9q34 → 9q34::22q11.2 → 22q11.2::7p22 → pter) (BCR+, ABL1+, RP11-96L18+). Further FISH using ASS (Abbott Molecular) and 7p subtelomere (RP11-96L18; TCAG, Toronto, Canada) probes confirmed a complex cryptic 4-way rearrangement between chromosomes 7, 9, 12, and 22. The presence of the BCR-ABL1 fusion gene on the long-arm of abnormal chromosome 12 with cytogenetically normal chromosome 9 and 22 was consistent with the results of RT-PCR. A diagnosis of CML, chronic phase, with the presence of dysmegakaryopoiesis was rendered. / Myelodysplasia can be detected in CML accelerated phase but not in the chronic phase. This is a unique case with complex chromosome rearrangements including variant Philadelphia translocations and dysmegakaryopoiesis, which do not belong to myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS), or MPN/MDS as per the World Health Organization 2008 and 2016 diagnostic criteria. The case emphasizes the importance of utilizing multiple tools in the diagnosis of hematologic neoplasm.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/128/4/10.1182_blood-2016-01-695460/4/m_604f1.jpeg?Expires=1733480093&Signature=wacMyBrKhPnCELUUB1BOpi-jRLBUkEbJXcKDZ5cVZ71hRUDpgkJFIYa8J7~w7S4a-hUdQpdeD0sjrvdZpxhiPPmGLdoYRaZpCSwL6VdRXnQeT~sDduL6fFhtaH1bIXMZP9ZODE23PIOEAtlOo5tqpt-zoEbDGC7Jd1rBYyq9lethzOZBaOyi59L1Mryz~k-YuCwkL7C36b5mYP3xmDOIsfdjHWEgMcgMK~uhgXtSYx~Ax-AE6KWzzX7vNCMgltwFP6cn~kCcabtQziGOrd8o3ijFozNAbttTKRZ9-QT87B4Fb35Q3~mUllzsaT9k22Ft72XA2II-IwmxNZQayOcXbw__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L). The blood film was consistent with chronic myelogenous leukemia (CML) with 2% blasts, basophilia (9.7%), and eosinophilia (panel A). The aspirate showed 4% blasts and the megakaryocytes (MKs) were hypolobated/monolobated, but a few dysplastic MKs with disjointed nuclei were observed (panel B). Reverse transcriptase polymerase chain reaction (RT-PCR) for BCR-ABL1 was positive. Cytogenetics and sequential metaphase G-banding to fluorescence in situ hybridization (FISH) (panels C-D) showed the following: 46,XY,der(7)t(7;12)(p22;q15), add(12)(q?14)[14].ish der(12)(12pter → 12q?15::9q34 → 9q34::22q11.2 → 22q11.2::7p22 → pter) (BCR+, ABL1+, RP11-96L18+). Further FISH using ASS (Abbott Molecular) and 7p subtelomere (RP11-96L18; TCAG, Toronto, Canada) probes confirmed a complex cryptic 4-way rearrangement between chromosomes 7, 9, 12, and 22. The presence of the BCR-ABL1 fusion gene on the long-arm of abnormal chromosome 12 with cytogenetically normal chromosome 9 and 22 was consistent with the results of RT-PCR. A diagnosis of CML, chronic phase, with the presence of dysmegakaryopoiesis was rendered.
Myelodysplasia can be detected in CML accelerated phase but not in the chronic phase. This is a unique case with complex chromosome rearrangements including variant Philadelphia translocations and dysmegakaryopoiesis, which do not belong to myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS), or MPN/MDS as per the World Health Organization 2008 and 2016 diagnostic criteria. The case emphasizes the importance of utilizing multiple tools in the diagnosis of hematologic neoplasm.
A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L). The blood film was consistent with chronic myelogenous leukemia (CML) with 2% blasts, basophilia (9.7%), and eosinophilia (panel A). The aspirate showed 4% blasts and the megakaryocytes (MKs) were hypolobated/monolobated, but a few dysplastic MKs with disjointed nuclei were observed (panel B). Reverse transcriptase polymerase chain reaction (RT-PCR) for BCR-ABL1 was positive. Cytogenetics and sequential metaphase G-banding to fluorescence in situ hybridization (FISH) (panels C-D) showed the following: 46,XY,der(7)t(7;12)(p22;q15), add(12)(q?14)[14].ish der(12)(12pter → 12q?15::9q34 → 9q34::22q11.2 → 22q11.2::7p22 → pter) (BCR+, ABL1+, RP11-96L18+). Further FISH using ASS (Abbott Molecular) and 7p subtelomere (RP11-96L18; TCAG, Toronto, Canada) probes confirmed a complex cryptic 4-way rearrangement between chromosomes 7, 9, 12, and 22. The presence of the BCR-ABL1 fusion gene on the long-arm of abnormal chromosome 12 with cytogenetically normal chromosome 9 and 22 was consistent with the results of RT-PCR. A diagnosis of CML, chronic phase, with the presence of dysmegakaryopoiesis was rendered.
Myelodysplasia can be detected in CML accelerated phase but not in the chronic phase. This is a unique case with complex chromosome rearrangements including variant Philadelphia translocations and dysmegakaryopoiesis, which do not belong to myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS), or MPN/MDS as per the World Health Organization 2008 and 2016 diagnostic criteria. The case emphasizes the importance of utilizing multiple tools in the diagnosis of hematologic neoplasm.
For additional images, visit the ASH IMAGE BANK, a reference and teaching tool that is continually updated with new atlas and case study images. For more information visit http://imagebank.hematology.org.
![A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L). The blood film was consistent with chronic myelogenous leukemia (CML) with 2% blasts, basophilia (9.7%), and eosinophilia (panel A). The aspirate showed 4% blasts and the megakaryocytes (MKs) were hypolobated/monolobated, but a few dysplastic MKs with disjointed nuclei were observed (panel B). Reverse transcriptase polymerase chain reaction (RT-PCR) for BCR-ABL1 was positive. Cytogenetics and sequential metaphase G-banding to fluorescence in situ hybridization (FISH) (panels C-D) showed the following: 46,XY,der(7)t(7;12)(p22;q15), add(12)(q?14)[14].ish der(12)(12pter → 12q?15::9q34 → 9q34::22q11.2 → 22q11.2::7p22 → pter) (BCR+, ABL1+, RP11-96L18+). Further FISH using ASS (Abbott Molecular) and 7p subtelomere (RP11-96L18; TCAG, Toronto, Canada) probes confirmed a complex cryptic 4-way rearrangement between chromosomes 7, 9, 12, and 22. The presence of the BCR-ABL1 fusion gene on the long-arm of abnormal chromosome 12 with cytogenetically normal chromosome 9 and 22 was consistent with the results of RT-PCR. A diagnosis of CML, chronic phase, with the presence of dysmegakaryopoiesis was rendered. / Myelodysplasia can be detected in CML accelerated phase but not in the chronic phase. This is a unique case with complex chromosome rearrangements including variant Philadelphia translocations and dysmegakaryopoiesis, which do not belong to myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS), or MPN/MDS as per the World Health Organization 2008 and 2016 diagnostic criteria. The case emphasizes the importance of utilizing multiple tools in the diagnosis of hematologic neoplasm.](https://ash.silverchair-cdn.com/ash/content_public/journal/blood/128/4/10.1182_blood-2016-01-695460/4/m_604f1.jpeg?Expires=1733480094&Signature=kFnf8UJvqY7HaoDhrUsxLbT6n1Bq38GjdGA2D9q3iIR7~zWKd4-cuAnzcG1OhNpo8rbJijYFkD2QLcbf~tIy7de9VxTUsrnHJB7YYThKN7aO7JfxWOgYcnZ6geQbneyKcCsbljlq1vfZB1nHS--J48wrTW-4irB-AyXzDVwy2LnqvmPW8iHnX6Ytgdq8lhthPQiq4LpivrWdle22q8Vw3sWdavNgOV7DL8OQUkoJWS0zQlLCXCIUVg5LZs9Ngsj~Ywd~TnzcVtOzpfwZh27XgK7J5b4HBzL8zi11ryM83ggDkbyS~ZRUpDvnKhMRdbTKhvGJXbwmVOQGJ3b8iDth4Q__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
