Prevalence of anti-SOX1 reactivity in various neurological disorders

Berger, Benjamin; Dersch, Rick; Ruthardt, Elisabeth; Rasiah, Christiane; Rauer, Sebastian; Stich, Oliver

doi:10.1016/j.jns.2016.09.002

Cited by 37 publications

(41 citation statements)

References 15 publications

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“…This protein is mainly expressed in the developing nervous system and down-regulated in adults. SOX proteins also play a role in airway epithelial differentiation, explaining why they can be found in SCLC 13–15. Anti-SOX1 antibody has strongly been linked to LEMS associated with SCLC and well-characterised in 2009 by Titulaer et al , reporting a sensitivity of 67% and a specificity of 95% with ELISA or Western blott 16.…”

Section: Discussionmentioning

confidence: 99%

A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination

Mirallas¹,

Rial

Martin-Cullell

et al. 2019

BMJ Case Rep

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Paraneoplastic syndromes (PS) are a rare presentation of cancer, most commonly associated with small cell lung cancer (SCLC), breast cancer and haematologic malignancies. The diagnosis of PS is challenging because it could affect multiple organ systems and it may present before the tumour is visible by imaging. We report a malignant tumour diagnosed in a male patient who referred long-term paraesthesia and proximal muscle strength loss. After ruling out common causes of polyneuropathy, the anti-SOX1 antibody gave light to the diagnosis. A pulmonary opacity in the upper right lobe was observed in the chest X-ray and a pulmonary tumour was later confirmed by CT scan. The biopsy of the cervical lymphadenopathy determined an SCLC, which caused a PS called Lambert-Eaton myasthenic syndrome (LEMS). Our case raises awareness of a rare PS presentation, which can be diagnosed by specific antibodies, allowing early diagnosis and treatment of lung cancer.

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Section: Discussionmentioning

confidence: 99%

A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination

Mirallas¹,

Rial

Martin-Cullell

et al. 2019

BMJ Case Rep

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“…6,7,11,12,15,16,21,[40][41][42][43][44][45][46][47][48][49][51][52][53][54][55][56][57][58][59][60][61] The underlying pathogenic mechanism may be due to the immunoreactivity of SCLC patients against epitopes of the conserved high-mobility group box; 14 apart from preventing neural differentiation in progenitor cells and being mainly expressed in the developing nervous system and down-regulated in adults, SOX1 proteins also affect the airway epithelial differentiation and are highly immunogenic. 14,18 Until now, little has been known about the prevalence and underlying pathogenesis of NSCLC and anti-SOX1-abs-related PNS. Our study found that only 22 patients with anti-SOX1 abs had NSCLC corresponding to other histological types, which were described as squamous-cell cancer (n= 6), 17,19 adenocarcinoma (n=7), 19,21 bronchial carcinoid (n=1), 46 polymorphic NSCLC (n=1), 21 and unspecified NSCLC (n= 7) (Table 3).…”

Section: Coexisting Tumorsmentioning

confidence: 99%

“…Abnormal DNA methylation of the promoter region of SOX1 is a potential pathogenesis. 19,62 Notably, a small group (n=34, 6.5%) of the 520 patients with anti-SOX1 abs developed neurological symptoms without underlying tumors, 7,11,12,18,20,21,25,45,46,49,63 even after years of follow-up, but the mechanism that triggered the autoimmune response remains unknown. A possible explanation is that the tumor was too small to be detected or would have developed in the future.…”

Section: Jcnmentioning

confidence: 99%

“…61 Furthermore, despite the follow-up lasting up to 15 years and being a median of 7 years, we cannot exclude the possibility that some cancer-negative patients had an occult neoplasm owing to the absence of cancer checkups in most patients. 18,49 Therefore, autoabs alone were not sufficient for differentiating cancer-positive from cancer-negative patients.…”

Section: Jcnmentioning

confidence: 99%

“…16 However, the understanding of the underlying mechanism of non-SCLC (NSCLC)-associated PNS is hindered by the rarity of the cases, with only a few studies described NSCLC patients presenting with anti-SOX1 abs. 12,[17][18][19][20][21] Since PCD is considered the most common PNS, we reviewed the neuronal autoabs and associated tumors present-ing as PCD (Table 1). In addition, we critically reviewed the clinical features of 486 cases of anti-SOX1 abs with identified tumors in 32 English-language and 4 Chinese-language studies reported up to December 2019 (Tables 2 and 3).…”

Section: Introductionmentioning

confidence: 99%

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Anti-SOX1 Antibodies in Paraneoplastic Neurological Syndrome

et al. 2020

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Anti-Sry-like high mobility group box (SOX) 1 antibodies (abs) are partly characterized onconeural autoantibodies (autoabs) due to their correlation with neoplastic diseases. Anti-SOX1 abs are associated with various clinical manifestations, including Lambert-Eaton myasthenic syndrome (LEMS) and paraneoplastic cerebellar degeneration (PCD). However, the clinical characteristics of patients with anti-SOX1 abs have not been described in detail. This review systematically explores the reported patients with anti-SOX1 abs and analyzes these cases for demographic characteristics, clinical features, coexisting neuronal autoabs, neuroimaging findings, treatment, and clinical outcomes. In addition, considering that PCD is the most common paraneoplastic neurological syndrome and that the association between PCD and anti-SOX1 abs remains unclear, we focus on the presence of autoabs in relation to PCD and associated tumors. PCD-associated autoabs include various intracellular autoabs (e.g., anti-Hu, anti-Yo, anti-Ri, and anti-SOX1) and cell-surface autoabs (anti-P/Q-type voltage-gated calcium channel). Commonly involved tumors in PCD are small-cell lung cancer (SCLC), gynecological, and breast tumors. LEMS is the most common clinical symptom in patients with anti-SOX1 abs, followed by PCD, and multiple neuronal autoabs coexist in 47.1% of these patients. SCLC is still the predominant tumor in patients with anti-SOX1 abs, while non-SCLC is uncommon. No consistent imaging feature is found in patients with anti-SOX1 abs, and there is no consensus on either the therapy choice or therapeutic efficacy. In conclusion, the presence of anti-SOX1 abs alone is a potential predictor of an uncommon paraneoplastic neurological disorder, usually occurring in the setting of LEMS, PCD, and SCLC. The detection of anti-SOX1 abs contributes to an early diagnosis of underlying tumors, given the diversity of clinical symptoms and the absence of characteristic neuroimaging features.

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