Salvatore Piscuoglio1, Nicola Fusco1,2, Charlotte K Y Ng1, Luciano G Martelotto1, Arnaud da Cruz Paula1,3, Nora Katabi1, Brian P Rubin4, Alena Skálová5, Ilan Weinreb6, Britta Weigelt1, Jorge S Reis-Filho1. 1. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. 2. Division of Pathology, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy. 3. Instituto Português de Oncologia, Oporto, Portugal. 4. Department of Pathology, Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA. 5. Department of Pathology, Medical Faculty of Charles University, Plzen, Czech Republic. 6. Department of Pathology, University Health Network, Toronto, Ontario, Canada.
Abstract
AIMS: Polymorphous low-grade adenocarcinoma (PLGA) is the second most common intra-oral salivary gland malignancy. The vast majority of PLGAs harbour a PRKD1 E710D hot-spot somatic mutation or somatic rearrangements of PRKD1, PRKD2 or PRKD3. Given the kinase domain homology among PRKD1, PRKD2 and PRKD3, we sought to define whether PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements would be driven by somatic mutations affecting the kinase domains of PRKD2 or PRKD3. METHODS AND RESULTS: DNA was extracted from eight microdissected PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements. Samples were thoroughly centrally reviewed, microdissected and subjected to Sanger sequencing of the kinase domains of the PRKD2 and PRKD3 genes. None of the PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements harboured somatic mutations in the kinase domains of the PRKD2 or PRKD3 genes. CONCLUSION: PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements are unlikely to harbour somatic mutations in the kinase domains of PRKD2 or PRKD3. Further studies are warranted to define the driver genetic events in this subgroup of PLGAs.
AIMS: Polymorphous low-grade adenocarcinoma (PLGA) is the second most common intra-oral salivary gland malignancy. The vast majority of PLGAs harbour a PRKD1E710D hot-spot somatic mutation or somatic rearrangements of PRKD1, PRKD2 or PRKD3. Given the kinase domain homology among PRKD1, PRKD2 and PRKD3, we sought to define whether PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements would be driven by somatic mutations affecting the kinase domains of PRKD2 or PRKD3. METHODS AND RESULTS: DNA was extracted from eight microdissected PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements. Samples were thoroughly centrally reviewed, microdissected and subjected to Sanger sequencing of the kinase domains of the PRKD2 and PRKD3 genes. None of the PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements harboured somatic mutations in the kinase domains of the PRKD2 or PRKD3 genes. CONCLUSION: PLGAs lacking PRKD1 somatic mutations or PRKD gene family rearrangements are unlikely to harbour somatic mutations in the kinase domains of PRKD2 or PRKD3. Further studies are warranted to define the driver genetic events in this subgroup of PLGAs.
Authors: C Marchiò; M Iravani; R Natrajan; M B Lambros; K Savage; N Tamber; K Fenwick; A Mackay; R Senetta; S Di Palma; F C Schmitt; G Bussolati; L O Ellis; A Ashworth; A Sapino; J S Reis-Filho Journal: J Pathol Date: 2008-08 Impact factor: 7.996
Authors: Ilan Weinreb; Salvatore Piscuoglio; Luciano G Martelotto; Daryl Waggott; Charlotte K Y Ng; Bayardo Perez-Ordonez; Nicholas J Harding; Javier Alfaro; Kenneth C Chu; Agnes Viale; Nicola Fusco; Arnaud da Cruz Paula; Caterina Marchio; Rita A Sakr; Raymond Lim; Lester D R Thompson; Simion I Chiosea; Raja R Seethala; Alena Skalova; Edward B Stelow; Isabel Fonseca; Adel Assaad; Christine How; Jianxin Wang; Richard de Borja; Michelle Chan-Seng-Yue; Christopher J Howlett; Anthony C Nichols; Y Hannah Wen; Nora Katabi; Nicholas Buchner; Laura Mullen; Thomas Kislinger; Bradly G Wouters; Fei-Fei Liu; Larry Norton; John D McPherson; Brian P Rubin; Blaise A Clarke; Britta Weigelt; Paul C Boutros; Jorge S Reis-Filho Journal: Nat Genet Date: 2014-09-21 Impact factor: 38.330
Authors: Ilan Weinreb; Lei Zhang; Laxmi M S Tirunagari; Yun-Shao Sung; Chun-Liang Chen; Bayardo Perez-Ordonez; Blaise A Clarke; Alena Skalova; Simion I Chiosea; Raja R Seethala; Daryl Waggott; Paul C Boutros; Christine How; Fei-Fei Liu; Jonathan C Irish; David P Goldstein; Ralph Gilbert; Nasir Ud Din; Adel Assaad; Jason L Hornick; Lester D R Thompson; Cristina R Antonescu Journal: Genes Chromosomes Cancer Date: 2014-06-18 Impact factor: 5.006
Authors: Charlotte K Y Ng; Luciano G Martelotto; Arnaud Gauthier; Huei-Chi Wen; Salvatore Piscuoglio; Raymond S Lim; Catherine F Cowell; Paul M Wilkerson; Patty Wai; Daniel N Rodrigues; Laurent Arnould; Felipe C Geyer; Silvio E Bromberg; Magali Lacroix-Triki; Frederique Penault-Llorca; Sylvia Giard; Xavier Sastre-Garau; Rachael Natrajan; Larry Norton; Paul H Cottu; Britta Weigelt; Anne Vincent-Salomon; Jorge S Reis-Filho Journal: Genome Biol Date: 2015-05-22 Impact factor: 13.583