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Hairy cell leukemia in a child?!

Authors:
Madeleen Bosma at Leiden University Medical Center
Madeleen Bosma
  • Leiden University Medical Center
Marije Bartels at University Medical Center Utrecht
Marije Bartels
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Abstract

Case report: A 16-year-old boy was referred by his general practitioner to a pediatrician because of thrombocytopenia (30 × 109/L) discovered in a routine blood count, which was performed before initiation of treatment with isotretinoin. He had no physical complaints or bleeding tendency. Physical examination revealed no hepatosplenomegaly or lymphadenopathy, and peripheral blood analysis demonstrated a moderate thrombocytopenia, mild neutropenia, mild normocytic anemia, and normal biochemical analysis. Additional microscopic evaluation revealed 17% atypical lymphocytes with hairy projections, suggestive for hairy cell leukemia (HCL) (panels A-E, original magnification ×1000; May-Grünwald Giemsa stain). A bone marrow examination was performed, demonstrating diffuse infiltration of mature B cells immunophenotypically characterized by CD19, CD20, CD22, and FMC7 expression and, to a lesser extent, expression of CD103 and CD11c. Molecular analysis demonstrated a BRAF V600E mutation, strongly supporting the diagnosis of HCL. HCL is a rare chronic B-cell malignancy accounting for 2% of all leukemias. HCL is predominantly diagnosed in patients >50 years of age and is extremely rare in children, as illustrated by only 3 cases described in the literature. Intriguingly, our patient was diagnosed with HCL following a random hematological evaluation (required to start with isotretinoin therapy) and did not show typical characteristics of HCL, such as hepatosplenomegaly, pancytopenia, and monocytopenia, suggesting a very early diagnosis.
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Hairy cell leukemia in a child?!
Madeleen Bosma, St. Antonius Hospital; and Marije Bartels, University Medical Center Utrecht
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A 16-year-old boy was referred by his general practitioner to
a pediatrician because of thrombocytopenia (30 310
9
/L) dis-
covered in a routine blood count, which was performed before
initiation of treatment with isotretinoin. He had no physical
complaints or bleeding tendency. Physical examination revealed
no hepatosplenomegaly or lymphadenopathy, and peripheral
blood analysis demonstrated a moderate thrombocytopenia,
mild neutropenia, mild normocytic anemia, and normal bio-
chemical analysis. Additional microscopic evaluation revealed
17% atypical lymphocytes with hairy projections, suggestive for
hairy cell leukemia (HCL) (panels A-E, original magnification
31000; May-Gr ¨
unwald Giemsa stain). A bone marrow exam-
ination was performed, demonstrating diffuse infiltration of
mature B cells immunophenotypically characterized by CD19,
CD20, CD22, and FMC7 expression and, to a lesser extent, ex-
pression of CD103 and CD11c. Molecular analysis demonstrated
a BRAF V600E mutation, strongly supporting the diagnosis
of HCL.
HCL is a rare chronic B-cell malignancy accounting for 2% of
all leukemias. HCL is predominantly diagnosed in patients .50
years of age and is extremely rare in children, as illustrated by
only 3 cases described in the literature. Intriguingly, our patient
was diagnosed with HCL following a random hematological eval-
uation (required to start with isotretinoin therapy) and did not
show typical characteristics of HCL, such as hepatosplenomegaly,
pancytopenia, and monocytopenia, suggesting a very early
diagnosis.
For additional images, visit the ASH Image Bank, a reference and teaching tool that is continually updated with new atlas
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DOI 10.1182/blood-2018-06-857938 © 2018 by The American Society of Hematology
1216 blood® 13 SEPTEMBER 2018 | VOLUME 132, NUMBER 11
For personal use only.on October 1, 2018. by guest www.bloodjournal.orgFrom
doi:10.1182/blood-2018-06-857938
2018 132: 1216
Madeleen Bosma and Marije Bartels
Hairy cell leukemia in a child?!
http://www.bloodjournal.org/content/132/11/1216.full.html
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... HCL is a rare condition occurring in B lymphocytes. Children are very rarely affected [7]. HCL has been identified with a male to female ratio of 5:1 [8]. ...
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... HCL can rarely occur in adolescence. 13 whereas in other HCL-like disorders the score is usually low: 0 or 1. 17 The aberrant expression of CD5, 18 CD10 19 or loss of expression of CD123 20 has been rarely reported. In the international consensus guidelines, the interest of trephine bone marrow biopsy and/or aspiration has been emphasized to appreciate the degree of tumor infiltration and help diagnosis in complex cases (immunostaining with CD20, CD72 and annexin-A1). ...
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... Hairy cell leukemia can rarely occur in adolescence. 10 At diagnosis, HCL is usually characterized by infections, splenomegaly or the presence of cytopenias. Autoimmune manifestations or unusual manifestations can be identified, some of which can mimic multiple myeloma. ...
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Hairy cell leukemia 2024: Update on diagnosis, risk‐stratification, and treatment—Annual updates in hematological malignancies
Article
Full-text available
Disease Overview Hairy cell leukemia (HCL) and HCL‐like disorders, including HCL variant (HCL‐V) and splenic diffuse red pulp lymphoma (SDRPL), are a very heterogenous group of mature lymphoid B‐cell disorders characterized by the identification of hairy cells, a specific genetic profile, a different clinical course and the need for appropriate treatment. Diagnosis Diagnosis of HCL is based on morphological evidence of hairy cells, an HCL immunologic score of 3 or 4 based on the CD11c, CD103, CD123, and CD25 expression, the trephine biopsy which makes it possible to specify the degree of tumoral bone marrow infiltration and the presence of BRAFV600E somatic mutation. Risk Stratification Progression of patients with HCL is based on a large splenomegaly, leukocytosis, a high number of hairy cells in the peripheral blood, and the immunoglobulin heavy chain variable region gene mutational status. VH4‐34 positive HCL cases are associated with a poor prognosis, as well as HCL with TP53 mutations and HCL‐V. Treatment Patients should be treated only if HCL is symptomatic. Chemotherapy with risk‐adapted therapy purine analogs (PNAs) are indicated in first‐line HCL patients. The use of chemo‐immunotherapy combining cladribine (CDA) and rituximab (R) represents an increasingly used therapeutic approach. Management of relapsed/refractory disease is based on the use of BRAF inhibitors (BRAFi) plus R, MEK inhibitors (MEKi), recombinant immunoconjugates targeting CD22, Bruton tyrosine kinase inhibitors (BTKi), and Bcl‐2 inhibitors (Bcl‐2i). However, the optimal sequence of the different treatments remains to be determined.
View
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