title: Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies.
abstract: Accurate typing of amyloidosis is still a major issue for pathologists and clinicians. Besides clinical data and immunohistochemistry, the histologic distribution of amyloid could represent a useful tool to prevent typing errors, such as the misdiagnosis of hereditary and senile amyloidosis as light chain-related amyloidosis (AL). Minor salivary gland biopsy (MSGB) is a widely performed procedure for amyloidosis diagnosis and typing. In the largest clinicopathologic series of amyloid-containing MSGB specimens to date, we investigated for the first time whether amyloidosis subtypes can be distinguished according to their pattern of salivary amyloid deposition. The histologic distribution and semiquantification of amyloid within salivary tissue were thoroughly reassessed for each case using Congo red-fluorescence. Clinical data were retrospectively collected. The cohort included 92 patients with amyloid-containing minor salivary gland biopsies. The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%). Amyloid was more abundant in AL and AA compared with ATTR amyloidosis, because of more extensive basement membranes and vascular deposits. Conversely, non-V30M mutant ATTR and wt-ATTR were strongly associated with peculiar amyloid nodules located in close contact with salivary excretory ducts, with a specificity of 91.7%. In conclusion, our study suggests for the first time that MSGB, in addition to its high sensitivity for amyloidosis diagnosis, is a simple and effective tool for the recognition of ATTR amyloidosis.
authors.affiliation: Departments of *Pathology †Internal Medicine ‡Biochemistry and Molecular Biology, UF Génopathies §Nephrology ∥Neurology ¶Cardiology #Hematology, CHRU de Lille, Regional Competence Center for Systemic Amyloidosis, and University Lille Nord de France, F-59000, Lille **Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Assistance Publique - Hôpitaux de Paris, Hôpital Bicêtre, CHU Paris Sud, Université Paris Sud, Le Kremlin Bicêtre ††Laboratoire de Biochimie et Génétique Moléculaire, Faculté de Médecine Paris, Université Paris Descartes, Sorbonne Paris Cité, Assistance Publique - Hôpitaux de Paris, Groupe Hospitalier Cochin-Hôtel Dieu; INSERM, Centre de Recherche des Cordeliers, URMS 872, équipe 17 ‡‡Pathology Department, Hôpital Tenon, Assistance Publique - Hôpitaux de Paris, Sorbonne Universités, UPMC Paris 6, Paris, France, F-75020.
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Jamet
authors.forename: Viviane
authors.initials: V
authors.lastname: Gnemmi
authors.forename: Éric
authors.initials: É
authors.lastname: Hachulla
authors.forename: Claire-Marie
authors.initials: CM
authors.lastname: Dhaenens
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bouchindhomme
authors.forename: Claire
authors.initials: C
authors.lastname: Delattre
authors.forename: François
authors.initials: F
authors.lastname: Glowacki
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Hatron
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lacour
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lamblin
authors.forename: David
authors.initials: D
authors.lastname: Launay
authors.forename: Xavier
authors.initials: X
authors.lastname: Leleu
authors.forename: Anne
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.forename: Sophie
authors.initials: S
authors.lastname: Valleix
authors.forename: Claude-Alain
authors.initials: CA
authors.lastname: Maurage
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Copin
authors.forename: David
authors.initials: D
authors.lastname: Buob
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000682:Amyloid / Q000032:analysis*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D015415:Biomarkers / Q000032:analysis; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics; D012189:Retrospective Studies; D012469:Salivary Glands / Q000737:chemistry / Q000473:pathology*
chemical_list: D000682:Amyloid; D015415:Biomarkers; D011228:Prealbumin