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Name
Myeloid/lymphoid neoplasms with PDGFRA rearrangement
Effective
2010 and later
Reportable
for cases diagnosed
2010 and later
Primary Site(s)
C421
Primary site must be bone marrow (C421). Blood and bone marrow always involved.
Coding Manual:
Hematopoietic Coding Manual (PDF)
Abstractor Notes
Diagnostic Confirmation
This histology can only be determined by positive genetics and/or immunophenotyping, diagnostic confirmation will always be 3.
Grade
Not Applicable
Module Rule
C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified
Alternate Names
Chronic eosinophilic leukemia with FIP1L1-PDGFRA
Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
Myeloid and lymphoid neoplasms with PDGFRA rearrangement
Myeloproliferative variant of the hypereosinophilic syndrome
Definition
The category 'myeloid/lymphoid neoplasm with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2' contains three specific rare disease groups and a provisional entity. Within this category, features shared are the formation of a fusion gene, or (rarely) from a mutation, resulting in the expression of an aberrant tyrosine kinase.
Myeloid/lymphoid neoplasms with PDGFRA rearrangement is the most common neoplasm associated with PDGFRA and is associated with FIP1L1-PDGFRA gene fusion, which occurs as a result of a cryptic deletion at 4q12. These neoplasms generally present as chronic eosinophilic leukemia (CEL), but can also present as acute myeloid leukemia, T-lymphoblastic leukemia lymphoma, or both simultaneously.
Organ damage (heart, lungs, central and peripheral nervous system, skin and GI tract) occurs as a result of leukemic infiltration or the release of cytokines, enzymes or other proteins by eosinophils. The peripheral blood eosinophil count is usually markedly elevated.
There is no Philadelphia (Ph) chromosome or BCR-ABL1 fusion gene, except when there is transformation to acute leukemia, there are less than 20% blasts in the peripheral blood and bone marrow.
Myeloid/lymphoid neoplasms with PDGFRA rearrangement is the most common neoplasm associated with PDGFRA and is associated with FIP1L1-PDGFRA gene fusion, which occurs as a result of a cryptic deletion at 4q12. These neoplasms generally present as chronic eosinophilic leukemia (CEL), but can also present as acute myeloid leukemia, T-lymphoblastic leukemia lymphoma, or both simultaneously.
Organ damage (heart, lungs, central and peripheral nervous system, skin and GI tract) occurs as a result of leukemic infiltration or the release of cytokines, enzymes or other proteins by eosinophils. The peripheral blood eosinophil count is usually markedly elevated.
There is no Philadelphia (Ph) chromosome or BCR-ABL1 fusion gene, except when there is transformation to acute leukemia, there are less than 20% blasts in the peripheral blood and bone marrow.
Definitive Diagnostic Methods
Bone marrow biopsy
FISH
Genetic testing
Immunophenotyping
Genetics Data
BCR-ABL1 fusion gene absent
FIP1L1-PDGFRA fusion gene resulting from cryptic del (4) (q12)
Philadelphia (Ph) chromosome absent
t(1;4)(q44;q12)
t(4;10)(q12;p11.1-p11.2)
Immunophenotyping
CD2- (no expression/negative)
CD23+ (expression/positive)
CD25+ (expression/positive)
CD69+ (expression/positive)
Treatments
Chemotherapy
Other therapy
Transformations to
There are no known transformations
Transformations from
There are no known transformations
Same Primaries
Corresponding ICD-9 Codes
202.9 Other and unspecified malignant neoplasms of lymphoid and histiocytic tissue
Corresponding ICD-10 Codes
C96.7 Other specified malignant neoplasms of lymphoid, hematopoietic, and related tissue
C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified
Corresponding ICD-10-CM Codes (U.S. only)
C96.Z Other specified malignant neoplasms of lymphoid, hematopoietic, and related tissue (effective October 01, 2015)
C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified (effective October 01, 2015)
Signs and Symptoms
Cardiomyopathy
Endomyocardial fibrosis
Fatigue
Pruritus
Serum tryptase increased
Splenomegaly
Vitamin B12 serum levels markedly elevated
Diagnostic Exams
Blood chemistry studies
Bone marrow aspiration and biopsy
Cytogenetic analysis
Immunophenotyping
Peripheral blood smear
Progression and Transformation
None
Epidemiology and Mortality
Age: 25-55 years (median age onset 40s)
Sex: male dominance
Sources
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J (Eds):
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th edition)
IARC: Lyon 2017
Section: Myeloid/lymphoid neoplasms with eosinophilia gene rearrangement
Pages: 73-76
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th edition)
IARC: Lyon 2017
Section: Myeloid/lymphoid neoplasms with eosinophilia gene rearrangement
Pages: 73-76
International Classification of Diseases for Oncology, Third Edition, Second Revision. Geneva: World Health Organization, 2020.
Section: ICD-O-3.2 (2020) Morphological Codes
Pages: http://www.iacr.com.fr/index.php?option=com_content&view=category&layout=blog&id=100&Itemid=577
Section: ICD-O-3.2 (2020) Morphological Codes
Pages: http://www.iacr.com.fr/index.php?option=com_content&view=category&layout=blog&id=100&Itemid=577
