Paraneoplastic opsoclonus-myoclonus syndrome secondary to melanoma metastasis form occult primary cancer

Abstract

Introduction: Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often requiring a prompt medical evaluation. Among the diverse etiologies associated with OMS are autoimmune, infectious, paraneoplastic, and systemic diseases, and drug intoxication. Clinical Summary: The case of a 36-year-old female with a disabling holocranial headache, sudden loss of consciousness, aggressive behavior, vertigo, and a personal history of somatoform disorder and major depression is presented here. After hospital admission, the patient developed sudden stereotyped movements in all four extremities and oculogyric crises compatible with OMS. Cerebrospinal fluid analysis, viral and autoimmune assays, as well as blood, urine, and bronchial secretion cultures, drug metabolite urinalysis, and tumor markers were all negative. Furthermore, brain computed tomography (CT) and brain magnetic resonance imaging, along with thoraco-abdominopelvic CT and electroencephalography, were also all negative. The patient suffered type one respiratory insufficiency after 72 h of hospitalization, requiring an endotracheal tube. After 13 days the patient suffered cardiac arrest. Necropsy was performed reporting lymph nodes with a poorly differentiated malignant neoplastic lesion, HMB-45, melan-A, vimentin, and S-100 positive, compatible with melanoma metastasis from an occult primary cancer. Discussion: While the incidence of melanoma of unknown primary is between 2.6 and 3.2%, with a median overall survival ranging between 24 and 127 months, when melanoma patients develop OMS their survival is markedly decreased. Although only 5 cases of paraneoplastic OMS secondary to melanoma have been reported in the literature, all had a poor prognosis, dying within 8 months of OMS onset.

Detection of High‐Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins

“…However, in contrast to anti‐Yo and anti‐Ri, melanoma was associated with 29% of known TRIM9/67‐IgG patients with cancer (1 of whom was on an immune checkpoint inhibitor) and 14% of all TRIM9/67‐IgG cases. Melanoma‐associated paraneoplastic cerebellar syndromes are exceedingly rare, many of which have been reported without an identified autoantibody 24–29 . Seropositive melanoma‐associated paraneoplastic cerebellar cases include SEPTIN3 30 (n = 2), Yo 31 (n = 1), GABABR 32 (n = 1), CARP‐VIII 33 (n = 1), ARHGAP26 34 (n = 1), and an anti‐TRIM9/67‐IgG case (n = 1) 3 …”

“…Melanoma-associated paraneoplastic cerebellar syndromes are exceedingly rare, many of which have been reported without an identified autoantibody. [24][25][26][27][28][29] Seropositive melanoma-associated paraneoplastic cerebellar cases include SEPTIN3 30 (n = 2), Yo 31 (n = 1), GABABR 32 (n = 1), CARP-VIII 33 (n = 1), ARHGAP26 34 (n = 1), and an anti-TRIM9/67-IgG case (n = 1). 3 This study highlights some additional benefits of complementing traditional autoantibody discovery and validation methods with PhIP-Seq.…”

Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer

“…A melanoma metastasis from an unknown primary cancer is rare, with an incidence of 3.2% [9]. Furthermore, only 5 cases of PNS secondary to melanoma metastasis and only 1 case involving a melanoma metastasis from an occult primary have previously been reported [10].…”

Paraneoplastic Opsoclonus-Myoclonus Syndrome as a Rare Presentation of Small-Cell Lung Cancer

“…Small-cell carcinoma of the lung is the most commonly reported malignancy associated with OMS in adults, but cases related to breast cancer, melanoma, and gynecologic and urogenital cancers have been reported [3,[5][6][7][8][9][10][11]. Importantly, the onset of OMS generally precedes other clinical manifestations related to cancer, offering the opportunity for an early diagnosis [8].…”