AJCP / SHP/EAHP Workshop

Myelodysplastic/Myeloproliferative Neoplasms
Kathryn Foucar, MD
Key Words: Myelodysplasia; Myeloproliferative; Myeloid neoplasm, WHO classification
DOI: 10.1309/AJCPJ71PTVIKGEVT

Abstract
Myelodysplastic/myeloproliferative neoplasms
(MDS/MPNs) are rare de novo myeloid neoplasms
that exhibit hybrid dysplastic and proliferative
features at presentation. This SHP/EAHP Workshop
session was uniquely problematic owing to the
overlap between MDS/MPNs and both chronic
myeloproliferative neoplasms and myelodysplasia.
The borderline between MDS/MPNs and overt acute
myeloid leukemias was also an issue, mainly related
to the accurate and consistent delineation of blast
equivalents such as promonocytes. Aside from juvenile
myelomonocytic leukemia, genetic features defining
specific MDS/MPN subtypes have not been identified.
Consequently, there is little change in the 2008 World
Health Organization classification of MDS/MPNs
compared with the 2001 version.

Myelodysplastic/myeloproliferative neoplasms (MDS/

MPNs) are rare de novo myeloid neoplasms that exhibit dysplastic and proliferative features at presentation. By definition,
the CBC shows a variable combination of cytopenias and
cytoses with dysplasia of at least 1 lineage. The bone marrow
of patients with MDS/MPNs is characteristically hypercellular
and shows dysplastic and proliferative features as predicted from
the peripheral blood. By definition, the percentage of blasts in
the blood and the bone marrow must be less than 20%. Four
subtypes of MDS/MPNs have been identified, including chronic
myelomonocytic leukemia (CMML), juvenile myelomonocytic
leukemia (JMML), atypical chronic myeloid leukemia, BCRABL1 (aCML), MDS/MPNs unclassifiable (MDS/MPN-U),
along with a provisional category, refractory anemia with ringed
sideroblasts and thrombocytosis (RARS-T). The 2008 World
Health Organization (WHO) classification system criteria for
these subtypes of MDS/MPN are delineated in Table 1.1-17
Although abnormalities in the regulation of the RAS pathway are common in various types of MDS/MPN, aside from
JMML, distinctive genetic features vital to the subclassification of MDS/MPNs have not yet been delineated.9,18 Indeed,
the newly proposed 2008 WHO classification of MDS/MPNs
shows little change from the 2001 classification, reflecting
the general lack of new biologic and genetic insights into this
distinctive hybrid group of disorders. Cases of CMML with
eosinophilia and PDGFRB rearrangement have been removed
from the MDS/MPN category and placed in a new genetically
defined category.1

Chronic Myelomonocytic Leukemia

Five workshop cases were ultimately concluded to fulfill
the diagnostic criteria for prototypic CMML Image 1. As
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Table 1
Diagnostic Criteria for MDS/MPN Subtypes1

Disorder

Blood

Bone Marrow

CMML
Persistent monocytosis, >1 109/L; dysplasia, 1 lineages present;
<20% blasts; usually hypercellular;
neutrophilia, usually present; <20% blasts dysplasia in 1 lineages; 2 subtypes
based on blast percentage
JMML
Persistent monocytosis, >1 109/L; <20% blasts; minor criteria: WBC count, <20% blasts; usually hypercellular
>10,000/L (10 109/L); increased hemoglobin F level; left shift; GM-CSF
hypersensitivity in culture; clonal cytogenetic abnormality
aCML (BCR-ABL1)
Neutrophilia with left shift; prominent dysgranulopoiesis; left shift 10% of
<20% blasts; hypercellular with
WBCs; <20% blasts; minimal to absent basophilia and monocytosis; granulocytic expansion with dysplasia;
monocytes generally <10% variable dysplasia of other lineages
MDS/MPN, unclassifiable Hybrid dysplastic/proliferative features; <20% blasts
<20% blasts; usually hypercellular


Provisional RARS-T
Hybrid dysplastic/proliferative features with sustained thrombocytosis
<20% blasts; 15% of erythroid
(platelet count, 450 103/L [450 109/L]); <20% blasts precursors are ringed sideroblasts
aCML, atypical CML, BCR-ABL1; CML, chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; CMPN, chronic myeloproliferative neoplasm; GM-CSF,
granulocyte-macrophage colony-stimulating factor; JMML, juvenile myelomonocytic leukemia; MDS/MPN, myelodysplastic/myeloproliferative neoplasms; RARS-T,
refractory anemia with ringed sideroblasts and thrombocytosis.

with all MDS/MPN subtypes, the diagnosis of CMML is

problematic, and several specific controversial issues were
identified in this subgroup.3,4,6 One significant problem
area is the distinction between CMML and acute myeloid
leukemia (AML) based on the percentage of promonocytes.
Promonocytes are defined as immature monocytic cells with
nuclear features of immaturity, especially nucleoli. Because
promonocytes are considered as blast equivalents, cases
with significant promonocytes will fulfill criteria for AML
even if actual morphologic blasts do not exceed 20% in the
blood or bone marrow Image 2, Image 3, and Image 4.

Workshop cases 111 and 138 highlighted the challenge in

distinguishing CMML from evolving AML. Another challenging differential diagnostic issue was highlighted by case
139 in which the distinction between aCML and CMML was
problematic Image 5 and Image 6. In this case, monocytes,
although accounting for only 4% (0.04) of total WBCs, were
absolutely increased at a level of 1,800/L (1.8 109/L).
Thus, this absolute monocyte count could be used to classify
this case as CMML, while aCML was the preferred diagnosis
of the panel based on the striking predominance of the granulocytic cells in the peripheral blood and bone marrow.
A

Image 1 Prominent monocytosis and neutrophilia are

present on this blood smear from a patient with chronic
myelomonocytic leukemia (Wright).

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Image 2 Monocytic cells exhibiting nuclear immaturity are

evident in this blood smear composite of cases 150 (A) and
198 (B) (A and B, Wright). Contributed by A. deMascarel and
D. Gratzinger.
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AJCP / SHP/EAHP Workshop

Comments

References

Exclude BCR-ABL1 and PDGFRA/B by genetic testing; exclude benign monocytoses;

Orazi and Germing,2 2008; Vardiman,3 2003; Xu et al,4
clonal cytogenetic abnormality confirms diagnosis even in cases with minimal 2005; Orazi et al,5 2006; Nye-Thane et al,6 2008
dysplasia; CD56 expression characteristic of neoplastic monocytosis
Exclude CML by genetic testing; monosomy 7 frequent; most common type of
Hasle et al,7 2004; Chang et al,8 2004; Archambeault
MDS/MPN in pediatric patients; association with neurofibromatosis-1; somatic et al,9 2008; Koike and Matsuda,10 2008; Niemeyer
mutations in NRAS, KRAS, or PTPN11 in 60% and Kratz,11 2008
Exclude BCR-ABL1 and PDGFRA/B by genetic testing
Vardiman et al,13 2008; Chang et al,8 2004; Fend et al,12
2008; Orazi and Germing,2 2008

No history of MDS or CMPN; no prior therapy; no genetic evidence of BCR-ABL1,
Orazi and Germing,2 2008
PDGFRA/B, FGFR1 or isolated del5q; case does not fulfill criteria for CMML,
JMML, or aCML
Exclude CML by genetic testing; JAK2 mutations described; megakaryocytes must
Shaw,14 2005; Szpurka et al,15 2006; Wang et al,16 2006;
resemble those of essential thrombocytopenia or other CMPN Atallah et al,17 2008; Orazi and Germing,2 2008

The bone marrow in CMML is typically hypercellular

with a predominance of granulocytic and monocytic cells;
the monocytic component can be highlighted by cytochemical staining (Image 6B) Image 7. The usefulness of bone
marrow core biopsy sections, especially in conjunction with
immunohistochemical stains, in the diagnosis of CMML has
been emphasized recently.5,11 These core biopsy features
include hypercellularity, a predominance of myelocytic/
monocytic cells, abnormal localization of immature precursors, and dysplastic megakaryocytes.6

Juvenile Myelomonocytic Leukemia

Two cases were submitted to the workshop with a diagnosis of JMML that was supported by panel review Image 8.
A

Image 3 Circulating promonocytes are present (A and B)

in a sample from a patient with chronic myelomonocytic
leukemia (A and B, blood sample, Wright).
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Both of these cases illustrated the usefulness of confirming

hypersensitivity to granulocyte-macrophage colony-stimulating factor in bone marrow culture studies as a criterion for
establishing the diagnosis of JMML.3,7-11 Unlike the other
subtypes of MDS/MPN, JMML frequently affects children,
and even very young children are affected. In 1 workshop case
(case 205), the patient showed striking leukocytosis at birth
and survived only 18 days. The other workshop case (016) was
a 28-month-old girl in whom JMML had been diagnosed when
she was 19 months old.
Because of its predilection for the pediatric age group
and because of the association with neurofibromatosis-1
(NF-1), JMML is unique among the MDS/MPNs. The
pathogenesis of JMML is complex, and defects in the RAS
signaling pathway have been documented, which are linked

Image 4 This bone marrow aspirate smear from a patient

with chronic myelomonocytic leukemia shows a spectrum of
monocytic maturation (Wright).

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to granulocyte-macrophage colony-stimulating factor hypersensitivity confirmed in the majority of cases.10 These RAS
signaling pathway defects include inactivation of the NF1
tumor suppressor gene or oncogenic mutations of the NRAS,
KRAS2, or PTPN11 gene.10 An important consideration in this
disease is the distinction between JMML and congenital AML

as highlighted by case 205. Genetic testing is essential in making the distinction between JMML (frequently associated with
monosomy 7) and other potential types of congenital leukemia,
such as 11q23-associated congenital acute monocytic and
lymphoblastic leukemias.3,7,11 As with CMML, the distinction
between JMML and AML is based on the percentage of blasts
A

Image 5 (Case 139) This bone marrow aspirate smear

shows a spectrum of granulocytic and monocytic cells in
conjunction with an absolute blood monocyte count of
1,800/L (1.8 109/L), supporting a diagnosis of chronic
myelomonocytic leukemia (Wright). Contributed by M. Yared.

Image 6 (Case 111) The borderline between chronic

myelomonocytic leukemia and acute myelomonocytic
leukemia is illustrated in this bone marrow aspirate; the
granulocytic and monocytic components are highlighted by
cytochemical staining (A, Wright; B, combined butyrate and
chloroacetate esterase stain). Contributed by C.A. Hanson.

Image 7 (Case 198) This blood and bone marrow core

biopsy composite illustrates the proliferative features of
chronic myelomonocytic leukemia in conjunction with marked
hypercellularity (A, blood sample, Wright; B, bone marrow
core biopsy sample, H&E). Contributed by D. Gratzinger.
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Image 8 Blood features of juvenile myelomonocytic

leukemia include marked leukocytosis with circulating
promonocytes and blasts (Wright). Courtesy of W. Finn.

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and promonocytes, which cannot exceed 20% in blood or

bone marrow. The bone marrow aspirate is usually hypercellular with prominent granulocytic and monocytic components
Image 9. Although immature cells are present, the percentage
of blasts and promonocytes is less than 20%.

Atypical Chronic Myeloid Leukemia BCR-ABL1

Criteria for aCML are challenging in that a variety of
morphologic and genetic criteria need to be met2,3,12 Image
10. Obviously, the exclusion of BCR-ABL1-related disease
is essential. In addition, a requirement for neutrophilia with
left shift and prominent dysgranulopoiesis has been established by WHO criteria.1,12,13 Although left shift is required,
the percentage of blasts cannot exceed 20% in blood or bone
marrow. Finally, although basophilia and monocytosis (10%)
are typically absent, mild basophilia and monocytosis do
not exclude a diagnosis of aCML (Table 1). Consequently,
cases with striking leukocytosis and a modest percentage of
monocytes will actually exceed 1,000/L (1 109/L), which
is used as the major criterion for CMML. This dilemma is
apparent for one of the cases submitted as aCML (case 015)
and one of the cases initially submitted as CMML (case 139).
Consequently, cases that most clearly fulfill criteria for aCML
are those in which there is marked leukocytosis with a striking
predominance of granulocytic cells showing marked dysplasia
and modest left shift. Neither basophilia nor monocytosis

Image 9 (Case 016) Bone marrow aspirate in juvenile

myelomonocytic leukemia shows a predominance of
myelomonocytic cells confirmed by cytochemical stain (A,
Wright; B, naphthyl butyrate esterase). Contributed by C.H.
Dunphy.
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should be striking, and even if the absolute monocyte count

exceeds 1,000/L (1 109/L), a diagnosis of aCML is still
appropriate. Similarly, the bone marrow should show granulocytic expansion with dysplasia without a dominant monocytic
component; the granulocytic predominance can be highlighted
by cytochemical or immunohistochemical stains Image 11.
As with all MDS/MPN cases, genetic testing is essential in
excluding BCR-ABL1-related disease and cases with AMLdefining translocations.

Myelodysplastic/Myeloproliferative
Neoplasms, Unclassifiable
Seven cases were recommended by the panel for a diagnosis of MDS/MPN-U, and this group of cases highlights many
challenging aspects of this diagnosis. Several cases ultimately
diagnosed as MDS/MPN-U actually had mild monocytosis or
basophilia (cases 015 and 098) and 1 case had striking bone
marrow fibrosis (case 189) Image 12. Cytogenetic abnormalities in this group of cases included del(20)q (case 098),
del(5)q, (case 193), and trisomy 8 (case 155). Aside from the
hybrid myeloproliferative/myelodysplastic features that are a
requirement for this category of myeloid neoplasm, the blood
features are relatively nondescript. The bone marrow features included consistent hypercellularity, granulocytic lineage
expansion, and frequent dysplastic megakaryocytes Image 13
and Image 14.

Image 10 A and B, Marked leukocytosis with left-shift and

dysplasia is evident in this blood sample from an elderly
patient with atypical chronic myeloid leukemia (A and B,
Wright).

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Provisional Category: Refractory Anemia With

Ringed Sideroblasts and Thrombocytosis
Seven cases of the provisional RARS-T subtype of MDS/
MPN-U were submitted. This group of cases was particularly
problematic because, in many cases, the bone marrow core
biopsy sample showed striking features suggestive of a
chronic myeloproliferative neoplasm rather than a hybrid
A

Image 11 (Case 237) This bone marrow core biopsy

composite illustrates the granulocytic predominance
characteristic of atypical chronic myeloid leukemia in which
CD34+ blasts are only minimally increased (A, H&E; B,
CD34; C, myeloperoxidase). Contributed by F. Fend.
A

Image 13 This composite of cases 015 (A) and 155 (B)

highlights the bone marrow hypercellularity and myeloid
expansion that is seen in myelodysplastic/myeloproliferative
neoplasms, unclassifiable (A and B, Wright). Contributed by
C.H. Dunphy and P.L. Nguyen.
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MDS/MPN14 Image 15 and Image 16. Indeed, enlarged,

hyperlobulated megakaryocytes were frequently encountered
in cases that were submitted as RARS-T, raising the possibility that these cases could be more optimally classified as
a chronic myeloid neoplasm with associated ringed sideroblasts. Further evidence supporting a diagnosis of a chronic
myeloproliferative neoplasm included the identification of

Image 12 (Case 015) This blood smear shows leukocytosis

and anemia; a diagnosis of myelodysplastic/myeloproliferative
neoplasms, unclassifiable, was made (Wright). Contributed
by C.H. Dunphy.

Image 14 This bone marrow core biopsy composite of

Cases 031 (A) and 015 (B) illustrates the hypercellularity
noted in myelodysplastic/myeloproliferative neoplasms,
unclassifiable (A and B, H&E). Contributed by X.F. Zhao and
C.H. Dunphy.
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JAK2 mutations in several of the cases.15,16 As with other

types of MDS/MPN, the lack of a specific genetic marker for
this disorder makes diagnosis challenging and controversial.
If myeloproliferative features predominate in the bone marrow and especially if a JAK2 mutation is identified, consideration of a chronic myeloproliferative neoplasm is clearly
warranted (Image 16). However, a recent study suggests that
cases fulfilling criteria for RARS-T have a unique biology
with median survival times greater than in other MDS/MPN
disorders but less than in essential thrombocythemia.17 The
role of JAK2 mutations in this biology is not clear because the
frequency of JAK2 mutations was similar in cases of RARS-T

and MDS/MPN-U. Other factors that seem to have prognostic significance in RARS-T compared with MDS/MPN-U,
regardless of JAK2 mutation status, include conventional
karyotype and platelet count.17

Conclusions and Recommendations

MDS/MPNs were among the most challenging and
controversial groups of diseases evaluated at the SHP/EAHP
Workshop. Reasons for the difficulty in reaching consensus
in this category of cases relate to the relatively subjective
morphologic criteria in blood and bone marrow and, more

Image 15 (Case 128) This composite illustrates blood, ringed sideroblasts, thrombocytosis, and hyperlobulated
megakaryocytes in a case with features of refractory anemia with ringed sideroblasts and thrombocytosis, but the core biopsy
was suggestive of a chronic myeloproliferative neoplasm (A, blood sample, Wright; B, aspirate, Prussian blue; C, blood sample,
Wright; D, core biopsy sample, H&E). Contributed by R.F. McClure.
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important, to the absence of distinctive biologic and genetic

features of disorders with hybrid myelodysplastic/myeloproliferative features. General recommendations Table 2
include careful attention to the identification of promonocytes
because these blast equivalent cells can clearly impact the
distinction between CMML and JMML at one end of the
spectrum and AML at the other. Even if morphologic blasts
are not numerous, abundant promonocytes may shift a case
of possible MDS/MPN into AML. Careful attention must also
be given to the morphologic features of megakaryocytes on
bone marrow core biopsy sections because cases in which the
megakaryocytes show dominant myeloproliferative features
may have JAK2 positivity and, thus, be better considered as

Table 2
Recommendations for Myelodysplastic/Myeloproliferative
Neoplasms
Diagnosis of exclusion without defining cytogenetic features
Hybrid dysplastic or proliferative features at initial diagnosis
CBC should demonstrate cytopenias and cytoses
Delineation of promonocytes is essential; blast equivalents
Blasts/blast equivalents <20% in blood and bone marrow
If JAK2 mutation identified, consider chronic myeloproliferative
neoplasm
Genetic testing essential to exclude BCR-ABL1-related neoplasms,
PDGFRA/B, FGFR1, isolated del5q, and low-blast-count
AML-defining translocations
AML, acute myeloid leukemia.

Image 16 This composite of bone marrow core biopsy specimens from cases 126 (A), 128 (B), 168 (C), and 195 (D) highlights
the spectrum of megakaryocyte morphologic features in problematic cases submitted as refractory anemia with ringed
sideroblasts and thrombocytosis (A-D, H&E). Contributed by Y.R. Orduz, R.F. McClure, L.C. Contis, and D. Gratzinger.
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a type of chronic myeloproliferative neoplasm. Even though

a distinctive genetic marker for MDS/MPNs has not yet
been identified, genetic testing must always be performed on
these cases to exclude the possibility of a BCR-ABL1-related
disorder or some other translocation such as t(8;21) that would
favor a diagnosis of low-blast-count AML.
From the Department of Pathology, University of New Mexico,
Health Sciences Center, Albuquerque.
Address reprint requests to Dr Foucar: TriCore Reference
Laboratory, 1001 Woodward Pl NE, Albuquerque, NM 87102.
Acknowledgments: The workshop panel acknowledges all
pathologists who submitted cases to the MDS/MPN session: B.
Alobeid, A. Bagg, G. Bhagat, F.J. Bot, L.C. Contis, A. deMascarel,
C.H. Dunphy (2 cases), F. Fend, T. George, D. Gratzinger, C.A.
Hanson, R.F. McClure, T.J. Molina, P.L. Nguyen, A. Orazi, Y.R.
Orduz, D.S. Rao, A. Schmitt-Graeff, K.S. Theil, X. Wang, M.
Yared, and X.F. Zhao.

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8. Chang Y, Jou S, Lin D, et al. Differentiating juvenile

myelomonocytic leukemia from chronic myeloid leukemia in
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14. Shaw G. Ringed sideroblasts with thrombocytosis: an
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15. Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with
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