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Hairy Cell Leukemia with Systemic Lymphadenopathy: Detection of BRAF Mutations in Both Lymph Node and Peripheral
Kazuya Okada1, Akane Kunitomi, Kazuya Sakai
1Department of Hematology and Oncology, Kurashiki Central Hospital, Japan.
Insights
This study reports a rare case of hairy cell leukemia (HCL) in a woman presenting with enlarged lymph nodes and spleen. The BRAF V600E mutation was identified in both blood and lymph node samples at diagnosis.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Hairy cell leukemia (HCL) is a rare chronic lymphoid leukemia.
- Diagnosis typically involves peripheral blood, bone marrow, and spleen evaluation.
- Systemic lymphadenopathy is an uncommon presentation of HCL.
Observation:
- A 47-year-old woman presented with pancytopenia, significant lymphadenopathy, and splenomegaly.
- Peripheral blood smear revealed neutropenia and lymphoid cells with characteristic hairy projections.
- Cervical lymph node biopsy showed histological features consistent with HCL.
Findings:
- The BRAF V600E mutation was detected in the patient's peripheral blood and lymph node specimens.
- Immunoglobulin gene rearrangement patterns were identical between peripheral blood and lymph node samples.
- The patient was diagnosed with systemic lymphadenopathy secondary to HCL.
Implications:
- This case highlights the importance of considering HCL in patients with unexplained lymphadenopathy and pancytopenia.
- The detection of the BRAF V600E mutation in both peripheral blood and lymph nodes at HCL onset is a novel finding.
- This observation may have implications for diagnostic strategies and targeted therapy in HCL.
Abstract:
A 47-year-old woman with pancytopenia, excessive systemic lymphadenopathy and splenomegaly was referred to our hospital. The peripheral blood (PB) smear findings indicated neutropenia with lymphoid cells exhibiting hairy projections, while the histological findings of the cervical lymph node (LN) suggested hairy cell leukemia (HCL). In addition, the BRAF V600E mutation was detected, and the immunoglobulin gene rearrangement patterns were identical in both the cervical LN and PB specimens. Based on these findings, we diagnosed the patient with systemic lymphadenopathy due to HCL. This is the first report of a BRAF mutation detected in both the PB and LN at the onset of HCL.
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