Acute myeloid leukemia with isolated trisomy 19 associated with diffuse myelofibrosis and osteosclerosis

Adam Stelling, Brian A. Jonas, Hooman H. Rashidi, Mehrdad Abedi, Mingyi Chen

Research output: Contribution to journalArticle

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Abstract

Primary myelofibrosis (PMF), per WHO criteria, is a clonal myeloproliferative neoplasm that usually presents with a proliferation of granulocytic and megakaryocytic lineages with an associated fibrous deposition and extramedullary hematopoiesis. The bone marrow histologic findings of this disorder are typically characterized by the presence of myeloid metaplasia with an associated reactive fibrosis, angiogenesis, and osteosclerosis. However, marked myelofibrosis is not solely confined to PMF and may also be associated with other conditions including but not limited to acute megakaryoblastic leukemias (FAB AML-M7). Here, we describe a rare case of a non-megakaryoblastic acute myeloid leukemia with marked myelofibrosis with osteosclerosis and an isolated trisomy 19. A 19-year-old male presented with severe bone pain of one week duration with a complete blood cell count and peripheral smear showing a mild anemia and occasional circulating blasts. A follow up computed tomography (CT) scan showed diffuse osteosclerosis with no evidence of hepatosplenomegaly or lymphadenopathy. Subsequently, the bone marrow biopsy showed markedly sclerotic bony trabeculae and a hypercellular marrow with marked fibrosis and intervening sheets of immature myeloid cells consistent with myeloblasts with monocytic differentiation. Importantly, these myeloblasts were negative for megakaryocytic markers (CD61 and vWF), erythroid markers (hemoglobin and E-cadherin), and lymphoid markers (CD3, CD19, and TdT). Metaphase cytogenetics showed an isolated triosomy 19 with no JAK2 V617F mutation. The patient was treated with induction chemotherapy followed by allogenic hematopoietic stem cell transplantation which subsequently resulted in a rapid resolution of bone marrow fibrosis, suggesting graft-anti-fibrosis effect. This is a rare case of a non-megakaryoblastic acute myeloid leukemia with myelofibrosis and osteosclerosis with trisomy 19 that may provide insights into the prognosis and therapeutic options of future cases.

Original languageEnglish (US)
Pages (from-to)2459-2465
Number of pages7
JournalCancers
Volume7
Issue number4
DOIs
StatePublished - Dec 14 2015

Fingerprint

Osteosclerosis
Primary Myelofibrosis
Trisomy
Acute Myeloid Leukemia
Granulocyte Precursor Cells
Fibrosis
Blood Cell Count
Bone Marrow
Hemoglobin E
Leukemia, Megakaryoblastic, Acute
Extramedullary Hematopoiesis
Induction Chemotherapy
Hematopoietic Stem Cell Transplantation
Myeloid Cells
Cadherins
Metaphase
Cytogenetics
Anemia
Tomography
Transplants

Keywords

  • Acute myeloid leukemia
  • Myelofibrosis
  • Osteosclerosis
  • Trisomy 19

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Acute myeloid leukemia with isolated trisomy 19 associated with diffuse myelofibrosis and osteosclerosis. / Stelling, Adam; Jonas, Brian A.; Rashidi, Hooman H.; Abedi, Mehrdad; Chen, Mingyi.

In: Cancers, Vol. 7, No. 4, 14.12.2015, p. 2459-2465.

Research output: Contribution to journalArticle

Stelling, Adam ; Jonas, Brian A. ; Rashidi, Hooman H. ; Abedi, Mehrdad ; Chen, Mingyi. / Acute myeloid leukemia with isolated trisomy 19 associated with diffuse myelofibrosis and osteosclerosis. In: Cancers. 2015 ; Vol. 7, No. 4. pp. 2459-2465.
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AB - Primary myelofibrosis (PMF), per WHO criteria, is a clonal myeloproliferative neoplasm that usually presents with a proliferation of granulocytic and megakaryocytic lineages with an associated fibrous deposition and extramedullary hematopoiesis. The bone marrow histologic findings of this disorder are typically characterized by the presence of myeloid metaplasia with an associated reactive fibrosis, angiogenesis, and osteosclerosis. However, marked myelofibrosis is not solely confined to PMF and may also be associated with other conditions including but not limited to acute megakaryoblastic leukemias (FAB AML-M7). Here, we describe a rare case of a non-megakaryoblastic acute myeloid leukemia with marked myelofibrosis with osteosclerosis and an isolated trisomy 19. A 19-year-old male presented with severe bone pain of one week duration with a complete blood cell count and peripheral smear showing a mild anemia and occasional circulating blasts. A follow up computed tomography (CT) scan showed diffuse osteosclerosis with no evidence of hepatosplenomegaly or lymphadenopathy. Subsequently, the bone marrow biopsy showed markedly sclerotic bony trabeculae and a hypercellular marrow with marked fibrosis and intervening sheets of immature myeloid cells consistent with myeloblasts with monocytic differentiation. Importantly, these myeloblasts were negative for megakaryocytic markers (CD61 and vWF), erythroid markers (hemoglobin and E-cadherin), and lymphoid markers (CD3, CD19, and TdT). Metaphase cytogenetics showed an isolated triosomy 19 with no JAK2 V617F mutation. The patient was treated with induction chemotherapy followed by allogenic hematopoietic stem cell transplantation which subsequently resulted in a rapid resolution of bone marrow fibrosis, suggesting graft-anti-fibrosis effect. This is a rare case of a non-megakaryoblastic acute myeloid leukemia with myelofibrosis and osteosclerosis with trisomy 19 that may provide insights into the prognosis and therapeutic options of future cases.

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