Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of langerhans cell histiocytosis
Introduction. Erdheim-Chester disease (ECD) is a rare, systemic form of non-Langerhans cell histiocytosis of the juvenile xantho-granuloma family with characteristic bilateral symmetrical long bone osteosclerosis, associated with xanthogranulomatous extras-keletal organ involvement. In ECD,...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Military Health Department, Ministry of Defence, Serbia
2016-01-01
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| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2016/0042-84501500037P.pdf |
| Summary: | Introduction. Erdheim-Chester disease (ECD) is a rare, systemic form of
non-Langerhans cell histiocytosis of the juvenile xantho-granuloma family
with characteristic bilateral symmetrical long bone osteosclerosis,
associated with xanthogranulomatous extras-keletal organ involvement. In ECD,
central nervous system (CNS) and orbital lesions are frequent, and more than
half of ECD patients carry the V600E mutation of the proto-oncogene BRAF. The
synchronous or metachronous development of ECD and Langerhans cell
histiocytosis (LCH) in the same patients is rare, and the possible connection
between them is still obscure. Cladribine is a purine substrate analogue that
is toxic to lymphocytes and monocytes with good hematoencephalic penetration.
Case report. We presented a 23-year-old man successfully treated with
cladribine due to BRAF V600E-mutation-negative ECD with bilateral orbital and
CNS involvement. ECD developed metachronously, 6 years after chemotherapy for
multisystem LCH with complete disease remission and remaining central
diabetes insipidus. During ECD treatment, the patient received 5 single-agent
chemotherapy courses of cladribine (5 mg/m2 for 5 consecutive days every 4
weeks), with a reduction in dose to 4 mg/m2 in a fifth course, delayed due to
severe neutropenia and thoracic dermatomal herpes zoster infection following
the fourth course. Radiologic signs of systemic and CNS disease started to
resolve 3 months after the end of chemotherapy, and CNS lesions completely
resolved within 2 years after the treatment. After 12-year follow-up, there
was no recurrence or appearance of new systemic or CNS xanthogranu-lomatous
lesions or second malignancies. Conclusion. In accordance with our findings
and recommendations provided by other authors, cladribine can be considered
an effective alternative treatment for ECD, especially with CNS involvement
and BRAF V600E-mutation-negative status, when interferon-α as the first-line
therapy fails. |
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| ISSN: | 0042-8450 2406-0720 |