017
Test #
Paraneoplastic Pemphigus (PNP) / Paraneoplastic Autoimmune Multiorgan Syndrome (PAMS) Antibody Titer
CPT Code(s) #
88346
If Profile, Includes Tests:
N/A
Disease Name:
Paraneoplastic pemphigus (PNP)/paraneoplastic autoimmune multiorgan syndrome (PAMS)
Type of Study:
Serum
Methodology:
Indirect Immunofluorescence
Substrate:
Rat bladder
Reference Range:
Negative: <1:10
Units:
Titer
Schedule:
Assay performed daily Monday-Friday. Report availability is within 48-72 hours from the time of specimen receipt.
Specimen Requirements:
Collect 2-5 ml of blood in a red top Vacutainer or serum separator (SST) tube, allow blood to clot, and centrifuge. Label tube appropriately.
Sample Stability:
Room temperature = stable during shipment
2ºC to 8ºC = 5 days
-25ºC to -15ºC = 1 year
Clinical Relevance:
Paraneoplastic pemphigus, or Paraneoplastic Autoimmune Multiorgan Syndrome (PNP/PAMS), is a rare but often fatal autoimmune blistering disease, with reported five-year mortality rates between 50-80%. PNP/PAMS is most commonly associated with hematologic malignancies and occasionally with sarcomas and other solid-organ malignancies. In younger population, the most commonly associated cancer is Castleman disease. Indirect immunofluorescence (IIF) using rat bladder epithelium substrate is a sensitive and specific test to detect plakin antibodies, and it is positive in approximately 80% of cases of PNP/PAMS.
The most prevalent antigens recognized by PNP/PAMS sera include: Plakins (envoplakin, periplakin, BP230, desmoplakins, epiplakin, plectin), Desmoglein 3 and 1, Desmocollins (Dscs: Dsc 1, Dsc 2, Dsc 3), and more recently a protease inhibitor alpha-2-macroglobulin-like antigen-1 (A2ML1) and transglutaminase 1.
Selected References:
Nguyen VT, Ndoye A, Bassler KD, Shultz LD, Shields MC, Ruben BS, Webber RJ, Pittelkow MR, Lynch PJ, Grando SA. Classification, clinical manifestations, and immunopathological mechanisms of the epithelial variant of paraneoplastic autoimmune multiorgan syndrome: a reappraisal of paraneoplastic pemphigus. Archives of Dermatology. 2001 Feb 1;137(2):193-206.
Huang S, Anderson HJ, Lee JB. Paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome: Part II. Diagnosis and management. Journal of the American Academy of Dermatology. 2024 Jul 1;91(1):13-22.
Kim JH, Kim SC. Paraneoplastic Pemphigus: Paraneoplastic Autoimmune Disease of the Skin and Mucosa. Front Immunol. 2019 Jun 4;10:1259.
Schepens I, Jaunin F, Begre N, et al. The protease inhibitor alpha 2 macroglobulin like 1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in humans. PLoS One. 2010;5(8):e12250.
Antiga E, et al. S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV). J Eur Acad Dermatol Venereol. 2023 Jun;37(6):1118-1134.
