Cerebral Langerhans Cell Hystiocitosis: What the oncologist wants to know.

Transcription

1 Cerebral Langerhans Cell Hystiocitosis: What the oncologist wants to know. Poster No.: C-0383 Congress: ECR 2015 Type: Authors: Keywords: DOI: Educational Exhibit M. Diez Blanco, S. Sanchez Bernal, H. Vidal Trueba, M. Drake Perez, E. Lopez Uzquiza, P. Gallego Ferrero, E. Marco de Lucas; Santander/ES Image registration, Cancer, Education, MR, CT, Hematologic, Head and neck /ecr2015/C-0383 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 17

2 Learning objectives The purpose of our educational exhibit is: 1) To evaluate the presentation of this disease and the evolution of the radiologic findings. 2) To emphasize the clinical utility of CT and MRI in making a correct clinical orientation. 3) To analyze the differential diagnosis of these lesions, as LCH (Langerhans cell histiocytosis) can mimic several other diseases. Background WHAT IS LHC? Langerhans cell histiocytosis (LCH) is regarded as a reactive clonal disease of the monocyte-macrophage system which forms granulomas within any organ system. It is most commonly characterized by single or multiple osteolytic bone lesions demonstrating infiltration with histiocytes having bean-shaped nuclei on biopsy with or without histiocytic infiltration of extraskeletal lesions (most notably the skin, lymph nodes, lungs, thymus, liver, spleen, bone marrow, or central nervous system). Although it is a rare disease (an incidence of cases per 100,000 children under 15 years of age; peak incidence at 1-4 years of age and slightly more prevalent in boys), it may present in many ways, mimic other conditions, and manifest itself in many organs. ETIOLOGY: Page 2 of 17

3 The LCH etiology is still uncertain (inflammatory+/-neoplastic). Genetic translocations and familial cases are documented. STAGING: A) It was FORMERLY classified into 1 of 3 overlapping forms: 1.- Eosinophilic granuloma (70%) - Calvarium most common - Localized 2.- Hand-Schüller-Christian (20%) - Multifocal - Chronic disseminated form 3.- Letterer-Siwe (10%) - Onset at less than 2 years of age +/- skeletal involvement B) Now it is clinically classified according to risk factors: - Multiorgan dysfunction - Multifocal envolvement - Young age Page 3 of 17

4 - Relapse TREATMENT PROTOCOLS OVERVIEW: It has been suggested that patients should be stratified based upon specific risk factors. The first step is to determine the number of organ systems involved. Then patients who have single system involvement should be further subcategorized based upon the number of sites involved (unifocal or multifocal). Whereas patients determined to have multiorgan disease should be further subcategorized based upon whether or not organ dysfunction is present. These latter patients can be additionally stratified based upon which organ systems are involved. 1. Patients with limited cutaneous disease typically require no therapy; but, topical steroids may be utilized. Topical nitrogen mustard or PUVA represent viable second-line options. 2. For patients with localized bone lesions, curettage is generally sufficient for both diagnosis and therapy; however, intralesional steroids or low dose radiation may be employed. 3. Treatment of multi-organ disease is controversial, with some advocating high-dose prednisone as the first-line therapy, whereas others suggest use of single-agent chemotherapy. Several large cooperative studies have shown that multi-agent chemotherapy, sustained over a longer duration, resulted in a greater response rate with fewer recurrences. Other therapies currently being investigated include monoclonal antibodies, specific cytokine inhibitors, and a relatively new agent, 2- chlorodeoxyadenosine. NATURAL HISTORY AND PROGNOSIS: Prognosis is dependent upon the number of organs involved, as well as the presence of organ dysfunction, and to a lesser degree, the age of the patient at the onset of the disease. In general, patients who present at a younger age and those with widely disseminated disease and organ dysfunction have the highest mortality. Yet, neonates with isolated cutaneous Page 4 of 17

5 lesions often do exceptionally well. Therefore, the age of the patient is only important when multiorgan involvement is present. Involvement of the spleen, lung, liver or hematopoietic system also portends a poor prognosis. It has been shown that the single best prognostic indicator is a patient's response to chemotherapy during the 6-week induction phase. Patients who respond to chemotherapy have a 88% to 91% survival rate, but for patients who do not demonstrate an early response the survival rate drops to 17% to 34%. Therefore, it has been advocated that these nonresponders be identified early so that more aggressive therapy may be employed. IMAGING PROTOCOLS: Best imaging tool: - Skull: NECT (CECT for mastoid disease) - Brain: MRI GUIDELINES for MRI studies: It is the aim to systematically seek neuro-degenerative involvement (cerebellum, basal ganglia, brain stem) and tumorous pituitary region, meninges, pineal gland, choroid plexus) involvement. Therefore, the MRI protocol for the examination of the brain of patients with CNS-LCH - especially for a first exploration - must be able to assess both the hypothalamicpituitary axis and the entire brain. It must include: Thin axial T1WI sequences. Page 5 of 17

6 Thin coronal and sagittal T1WI sequences (<3 mm slice thickness) for the hypothalamic-pituitary region. Axial T2WI and FLAIR sequences (<5 mm slice thickness) over the whole brain. 3D T1WI +C sequence brain and hypothalamicpituitary region. Findings and procedure details DIAGNOSTIC AND CLINICAL CHECKLIST: 1.- Skull is most frequent bony site involved: - Calvarial: pain, bony defect, subscalp mass. - Mastoid destruction: pain, chronic otitis externa. 2.- Thick enhancing pituitary stalk is most common CNS manifestation: - Pituitary infundibular involvement: visual disturbance+/- hypothalamic dysfunction. 3.- Cerebellar white matter hyperintensity (autoimmunemediated demyelination). Page 6 of 17

7 IMAGING FINDINGS: * PEARLS: - Skull: Sharply marginated lytic skull defect with beveled margins (calvarium most common, especially in frontal and parietal bones). Fig. 1 on page 10 - Mastoid: Geographic destruction +/- soft tissue mass. - Brain: Thick enhancing infundibulum, absent posterior pituitary bright spot on T1WI, hypothalamus. Fig. 1 on page 10 * CT FINDINGS: A) NECT: - Calvarium: Lytic defect (inner table most frequent) +/- small soft tissue mass. Fig. 1 on page 10 - Mastoid: Bone destruction (often bilateral) +/- soft tissue mass. B) CECT: - Calvarium/mastoid: Enhancing soft tissue in lytic defect. - Brain: Enhancing, thick pituitary stalk +/- hypothalamic mass or enhancement. * MRI FINDINGS: Page 7 of 17

8 T1WI: - Soft tissue mass at site of bony lysis. Fig. 1 on page 10 - Pituitary/infundibulum: Absent posterior piyuitary brighy spot, thick stalk +/- soft tissue mass. Fig. 1 on page 10 T2WI: - Skull, mastoid, orbital/facial lesions: soft tissue masses show slight T2 hyperintensity. Fig. 3 on page 10 - Brain: Infundibulum/hypothalamus: slightly hyperintense +/- cerebellar white matter hyperintensity (autoimmunemediated demyelination). Fig. 3 on page 10 FLAIR: - Hyperintensity of rare cerebellar white matter demyelination. Fig. 3 on page 10 T1WI +C: - Skull, mastoid, orbital/facial: Enhancing soft tissue masses (defined or infiltrating). - Brain: - Infundibulum: Vivid enhancement and stalk thickening. -Rare enhancing masses in choroid plexus, leptomeninges and Page 8 of 17

9 basal ganglia. HIGHLIGHTING PITFALLS: 1.- Metastasis: Fig. 4 on page 11 - Best diagnostic clue: Enhancing lesion (s) with skull/meningeal destruction/infiltration. - History of intra/extracranial malignancies. 2.- Severe mastoiditis: Fig. 5 on page 12 - Best diagnostic clue: Erosion of mastoid septations and cortex is most specific CT finding. - Acute infection of middle-ear mastoid air cells with progressive resorption/ demineralization of mastoid septae +/- mastoid cortex. 3.- Rhabdomyiosarcoma: Fig. 6 on page 13 - Best diagnostic clue: Invasive soft tissue mass with variable contrast enhancement. - Most common childhood soft tissue sarcoma (up to 40% occur in head and neck). 4.- Non-Langerhans cell histiocytosis: Fig. 2 on page 14 - Family of histiocytosis characterized by the absence of Langerhans cells, including Erdheim-Chester disease, Juvenile xanthogranuloma (as the case of Fig.2), Kikuchi and Rosai-Dorfman diseases. - It is not possible to differentiate these cases by imaging. Page 9 of 17

10 Images for this section: Fig. 1 Page 10 of 17

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16 Conclusion 1.- Skull is most frequent bony site involved and thick enhancing pituitary stalk is most common CNS manifestation of LCH. 2.- Imaging protocol studies (CT and MRI) become relevant for making differential diagnosis, highlighting metastasis, severe mastoiditis and rhabdomyosarcoma, among other. 3.- Radiologists play an important role in the early diagnosis of LCH, improving the prognosis and clinical management of these patients. Personal information Thank you very much for visiting my poster!! If you need to contact me, please write to me in References 1. Daniela Prayer et Al. MR Imaging Presentation of Intracranial Disease Associated with Langerhans Cell Histiocytosis. AJNR Am J Neuroradiol 25: , May D'Ambrosio N et Al. Craniofacial and intracanial manifestations of Langerhans Cell Histiocytosis: report of findings in 100 patients. AJR 191(2): Demaerel P el At. Paedriatic neuroradiological aspects of Langerhans Cell Histiocytsis. Neuroradiology. 50(1): T. N. Kilborn el Al. Paediatric Manifestations of Langerhans Cell Histiocytosis: a Review of the Clinical and Radiological Findings. Clinical Radiology 58, Saliba I el Al. Langerhans Cell Histiocytosis of the temporal bone in children. Int J Pediatr Otorhinolaryngol. 72(6): Page 16 of 17

17 6. Varan A et Al. Radiological evaluation of patients with pituitary langerhans cell histiocytosis at diagnosis and at follow-up. Pediatr Hematol Oncol 2008 Sep;25(6): Page 17 of 17