Name

Myeloid/lymphoid neoplasms with FGFR1 rearrangement

ICD-O-3 Morphology

9967/3: Myeloid and lymphoid neoplasms with FGFR1 abnormalities
Effective 2010 and later

Reportable

for cases diagnosed 2010 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421)

Grade

Not Applicable

Module Rule

None

Alternate Names

8p11 myeloproliferative syndrome
Hematological stem cell neoplasm with FGFR1 abnormalities

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.

Hematological neoplasms with FGFR1 rearrangement are heterogeneous. They are derived from a pluripotent hematopoietic stem cell. Cases can present as a myeloproliferative neoplasm or (in transformation) as acute myeloid leukemia, T- or B- lymphoblastic leukemia or mixed-phenotype acute leukemia.

Most patients have splenomegaly and some have hepatomegaly. Some patient have skin infiltration and cardiac damage leading to cardiac failure. Serum tryptase may be mildly or moderately elevated.

Abstractor Notes

(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010, see code 9960/3.There is no established tyrosine kinase inhibitor therapy for MPN with FGFR1 rearrangement.

Interferon has induced a cytogenetic response in several patients. Until specific therapy is developed, hematopoietic stem cell transplantation should be considered even in those who present in chronic phase.

Definitive Diagnostic Methods

Bone marrow biopsy
Genetic testing
Polymerase chain reaction (PCR)

Genetics Data

None

Immunophenotyping

None

Treatments

Hematologic Transplant and/or Endocrine Procedures
Immunotherapy

Transformations to

There are no known transformations

Transformations from

There are no known transformations

Corresponding ICD-9 Codes

205.8 Other myeloid leukemia

Corresponding ICD-10 Codes

C92.7 Other myeloid leukemia

Corresponding ICD-10-CM Codes (U.S. only)

C92.Z Other myeloid leukemia (effective October 01, 2015)

Signs and Symptoms

Hypermetabolism
Lymph node enlargement
Night sweats
Weight loss

Progression and Transformation

None

Epidemiology and Mortality

Age: 32 years median age (3-84 age range)
Sex: moderate male predominance
Survival: currently poor, specific therapy still being developed

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: 77-78

International Classification of Diseases for Oncology, Third Edition, First Revision. Geneva: World Health Organization, 2013.
Section: ICD-O-3.1 (2011) Morphological Codes
Pages: http://codes.iarc.fr/codegroup/2
Glossary