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Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2: Overview 2019

Written2019-07Sheng  Xiao
Brigham and Women's Hospital, Boston, MA 02215; pdalcin@bwh.harvard.edu

Abstract Review on the group of myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 defined by the WHO 2016.

Keywords eosinophilia; PDGFRA; PDGFRB; FGFR1, PCM1/JAK2

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9965/3 Myeloid and lymphoid neoplasms with PDGFRA rearrangement
ICD-Morpho 9966/3 Myeloid and lymphoid neoplasms with PDGFRB rearrangement
ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
ICD-Morpho 9968/3
Atlas_Id 1855

Clinics and Pathology

Disease Eosinophilia is defined as a peripheral blood eosinophil count > 0.5x109/L, with > 1.5x109/L of eosinophil count sometimes referred to as hypereosinophlia. Eosinophilia is a common clinical phenotype associated with various conditions including allergies, infections, medications, autoimmune disorders and malignancies. Although malignancy-related eosinophilia is rare, it is an important clinical sign of these tumors, which require early diagnosis and clinical intervention. Figure 1 summaries the initial workup of patients with eosinophilia. (1) Myeloid/lymphoid neoplasms with PDGFRA rearrangement
(2) Myeloid/lymphoid neoplasms with PDGFRB rearrangement
(3) Myeloid/lymphoid neoplasms with FGFR1 rearrangement
(4) Provisional entity: Myeloid/lymphoid neoplasms with PCM1/JAK2
Phenotype / cell stem origin WHO 2016 defines a group of myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1 / JAK2 as:
 
Figure 1. Testing algorithm for possible haematological neoplasms with clonal eosinophilia. Courtesy of the British Committee for Standards in Haematology
Treatment This group of patients can be treated with tyrosine kinase inhibitors. While patients with PDGFRA or PDGFRB rearrangement are highly sensitive to Imatinib, PCM1-JAK2 patients had varying responses to JAK2 inhibitor Ruxolitinib, which can induce complete remission, although the duration is often limited. FGFR1 inhibitors have not been very successful in treating tumors with FGFR1 rearrangement. PKC412 was effective in a patient with progressive myeloproliferative disorder with (8;13) (Chen et al., 2004); however, subsequent studies with the FGFR1 inhibitor ponatinib were less successful. Novel FGFR1 inhibitors are currently being tested in clinical trials for solid tumors with FGFR1 activation. Recently a new FGFR family kinase inhibitor INCB054828 induced complete resolution of eosinophilia as well as complete hematologic, cytogenetic and molecular remission in a patient with FGFR1 rearranged MPN (Verstovsek et al., 2018).

Genetics

The fusion partner genes for PDGFRA, PDGFRB, or FGFR1 have been steadily accumulating and are updated below in Tables.
Table 1: PDGFRA fusion partners, chromosome locations, detection methods and references

Gene name

Rearrangements

Detection methods

References
(PMID)

Karyotype

FISH

RT-PCR

NGS

BCR

t(4;22)(q12;q11.2)

Yes

Yes

Yes

Yes

15034867

CDK5RAP2

ins(9;4)(q33;q12q25)

Yes

Yes

Yes

Yes

16845659

ETV6

t(4;12)(q12;p13)

Yes

Yes

Yes

Yes

17555450

FIP1L1

del(4)(q12q12)

No

Yes

Yes

Yes

12660384

FOXP1

t(3;4)(p13;q12)

Yes

Yes

Yes

Yes

26319757

KIF5B

t(4;10)(q12;p11)

Yes

Yes

Yes

Yes

16498388

STRN

t(2;4)(p24;q12)

Yes

Yes

Yes

Yes

17555450

TNKS2

t(4;10)(q12;q23.3)

Yes

Yes

Yes

Yes

25658984


Table 2: PDGFRB fusion partners, chromosome locations, detection methods and references

Gene name

Rearrangements

Detection methods

References (PMID)

Karyotype

FISH

RT-PCR

NGS

AGGF1

add(5)

Yes

Yes

Yes

Yes

28552906;
29284681

ATF7IP

t(5;12)(q33;p13)

Yes

Yes

Yes

Yes

24628626

BIN2

t(5;12)(q32;q13)

Yes

Yes

Yes

Yes

20085582

CAPRIN1

t(5;11)(q33;p13)

Yes

Yes

Yes

Yes

17296564

CCDC6

t(5;10)(q33;q21)

Yes

Yes

Yes

Yes

10910073

CCDC88C

t(5;14)(q33;q32)

Yes

Yes

Yes

Yes

15496975; 24772479

CEP85L

t(5;6)(q33-34;q23)

Yes

Yes

Yes

Yes

21938754

CPSF6

t(5;12)(q33;q15)

Yes

Yes

Yes

Yes

26355392

DIAPH1

t(5;5)(q31.3;q32)

No

Yes

Yes

Yes

28751768

DOCK2

del(5)

No

Yes

Yes

Yes

28552906

DTD1

t(5;20)(q33;p11)

Yes

Yes

Yes

Yes

24772479

EBF1

del(5)(q32q33)

No

Yes

Yes

Yes

23835704

ERC1

t(5;12)(q33;p13)

Yes

Yes

Yes

Yes

17690697

ETV6

t(5;12)(q33;p13)

Yes

Yes

Yes

Yes

8168137

GCC2

t(2;5)(q37;q31)

Yes

Yes

Yes

Yes

30697976

GIT2

t(5;12)(q33;q24)

Yes

Yes

Yes

Yes

17296564

GOLGA4

t(3;5)(p22;q31)

Yes

Yes

Yes

Yes

20085582

GOLGB1

t(3;5)(q13;q32)

Yes

Yes

Yes

Yes

26355392

HIP1

t(5;7)(q33;q11)

No

Yes

Yes

Yes

9616134

KANK1

t(5;9)(q32;p24)

Yes

Yes

Yes

Yes

20164854

MPRIP

t(5;17)(q32;p11)

Yes

Yes

Yes

Yes

26355392

MYO18A

t(5;17)(q32;q11)

Yes

Yes

Yes

Yes

28261327

NDE1

t(5;16)(q32;p13)

Yes

Yes

Yes

Yes

17301821

NIN

t(5;14)(q33;q24)

Yes

Yes

Yes

Yes

15087377

NUMA1

t(5;11) (q32;q13.4)

Yes

Yes

Yes

Yes

28449810

PCM1

ins(8;5)(p23;q33q35)

Yes

Yes

Yes

Yes

29169164

PRKG2

t(4;5)(q21;q33)

Yes

Yes

Yes

Yes

18262053

RABEP1

t(5;17)(q33;p13)

Yes

Yes

Yes

Yes

11588050

SART3

t(5;12)(q32;q23)

Yes

Yes

Yes

Yes

20107158

SATB1

t(3;5)(p24;q32)

Yes

Yes

Yes

Yes

28552906

SPECC1

t(5;17)(q33;p11.2)

Yes

Yes

Yes

Yes

15087372

SPTBN1

t(2;5)(p21;q33)

Yes

Yes

Yes

Yes

18262053

TBL1XR1

(3;5)(q26;q32)

Yes

Yes

Yes

Yes

28509585

TNIP1

t(5;5)(q32;q33)

No

Yes

Yes

Yes

28408464

TP53BP1

t(5;15)(q33;q22)

Yes

Yes

Yes

Yes

15492236

TPM3

t(1;5)(q21;q32)

Yes

Yes

Yes

Yes

16838028

TRIP11

t(5;14)(q33;q32)

Yes

Yes

Yes

Yes

9373237

TSC1

t(5;9)(q32;q34)

Yes

Yes

Yes

Yes

29384404

WDR48

t(1;3;5)(p36;p21;q33)

Yes

Yes

Yes

Yes

20085582

ZMYND8

t(5;20)(q32;q13)

Yes

Yes

Yes

Yes

28408464

Table 3: FGFR1 fusion partners, chromosome locations, detection methods and references

Gene name

Rearrangements

Detection methods

References
(PMID)

Karyotype

FISH

RT-PCR

NGS

BCR

t(8;22)(p11;q11)

Yes

Yes

Yes

Yes

11746971;
11739186

CNTRL

t(8;9)(p12;q33)

Yes

Yes

Yes

Yes

10688839

CPSF6

t(8;12)(p11;q15)

Yes

Yes

Yes

Yes

18205209

CUX1

t(7;8)(q22;p11)

Yes

Yes

Yes

Yes

21330321

FGFR1OP

t(6;8)(q27;p11)

Yes

Yes

Yes

Yes

9949182

FGFR1OP2

t(8;12)(p12;p11);
ins(12;8)(p11;p12p22)

Yes

Yes

Yes

Yes

15034873

ERVK-6

t(8;19)(p12;q13)

Yes

Yes

Yes

Yes

12393597

LRRFIP1

t(2;8)(q37;p11)

Yes

Yes

Yes

Yes

19369959

MYO18A

 t(8;17)(p11;q23)

Yes

Yes

Yes

Yes

15800673

RANBP2

t(2;8)(q12;p11)

Yes

Yes

Yes

Yes

23041776

SQSTM1

t(5;8)(q35;p11)

Yes

Yes

Yes

Yes

25501022

TPR

t(1;8)(q31;p11.2)

No

Yes

Yes

Yes

22619110

TRIM24

t(7;8)(q34;p11)

Yes

Yes

Yes

Yes

15609342

ZMYM2

t(8;13)(p11;q12)

Yes

Yes

Yes

Yes

9425908


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Citation

This paper should be referenced as such :
Xiao S
Myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2: Overview 2019;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/PDGFRAPDGFRBFGFR1PCM1-JAK2ID1855.html


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