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Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Tumors, An Issue of  Surgical Pathology Clinics, E-Book

Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Tumors, An Issue of Surgical Pathology Clinics, E-Book

Lynette M. Sholl

(2016)

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Book Details

Abstract

This issue of the Surgical Pathology Clinics entitled “Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Tumors” is being edited by Dr. Lynette Sholl and will cover molecular pathology in a wide array of anatomic locations including, salivary gland, lung, bladder, glioma, endometrium, colon, pancreaticobiliary tract, sarcoma, myeloid neoplasams, and lymphomas.

Table of Contents

Section Title Page Action Price
Front Cover Cover
Molecular Pathology:Predictive, Prognostic,and Diagnostic Markersin Tumors\r i
Copyright\r ii
Contributors iii
CONSULTING EDITOR iii
EDITOR iii
AUTHORS iii
Contents v
Preface\r v
Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Salivary Gland Tumors\r v
The Molecular Pathology of Lung Cancer\r v
Establishing a Robust Molecular Taxonomy for Diffuse Gliomas of Adulthood\r v
The Emerging Molecular Landscape of Urothelial Carcinoma\r v
Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Uterine Tumors\r vi
Molecular Evaluation of Colorectal Adenocarcinoma: Current Practice and Emerging Concepts\r vi
Molecular Diagnostics in the Evaluation of Pancreatic Cysts\r vi
Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma\r vii
Molecular Pathology: Prognostic and Diagnostic Genomic Markers for Myeloid Neoplasms\r vii
Molecular Pathology: Predictive, Prognostic, and Diagnostic Markers in Lymphoid Neoplasms\r vii
SURGICAL PATHOLOGY CLINICS\r viii
FORTHCOMING ISSUES viii
December 2016 viii
March 2017 viii
June 2017 viii
RECENT ISSUES viii
June 2016 viii
March 2016 viii
December 2015 viii
Preface ix
Molecular Pathology 339
ABSTRACT 339
OVERVIEW 339
ASSOCIATED GENETIC CHANGES/ALTERATIONS 340
DIAGNOSIS-DEFINING MOLECULAR ALTERATIONS: A NEW PARADIGM IN MONOMORPHIC SALIVARY GLAND TUMORS 340
HIGH-GRADE PLEOMORPHIC SALIVARY GLAND MALIGNANCIES: THE IMPORTANCE OF WALKING BEFORE RUNNING IN APPLYING ANCILLARY STUDIES 341
MOLECULAR PATHOLOGY OF CLASSIC/COMMON TUMORS 341
MUCOEPIDERMOID CARCINOMA 341
ADENOID CYSTIC CARCINOMA 342
SALIVARY DUCT CARCINOMA 343
MAMMARY ANALOG SECRETORY CARCINOMA 344
POLYMORPHOUS LOW-GRADE ADENOCARCINOMA/CRIBRIFORM ADENOCARCINOMA OF SALIVARY GLAND 344
PLEOMORPHIC ADENOMA AND CARCINOMA EX PLEOMORPHIC ADENOMA 346
MOLECULAR PATHOLOGY OF RARE TUMORS 346
HYALINIZING CLEAR CELL CARCINOMA 346
BASAL CELL ADENOMA AND ADENOCARCINOMA 347
EPITHELIAL-MYOEPITHELIAL CARCINOMA 348
MYOEPITHELIAL CARCINOMA 348
TECHNIQUES 348
REFERENCES 349
The Molecular Pathology of Lung Cancer 353
ABSTRACT 353
OVERVIEW 353
ASSOCIATED GENETIC ALTERATIONS 354
ADENOCARCINOMA 354
SQUAMOUS CELL CARCINOMA 354
SMALL CELL LUNG CARCINOMA/LARGE CELL NEUROENDOCRINE CARCINOMA 354
MOLECULAR PATHOLOGY OF CLASSIC TUMORS 356
INVASIVE LUNG ADENOCARCINOMA 356
ADENOCARCINOMA IN SITU/MINIMALLY INVASIVE ADENOCARCINOMA 357
INVASIVE MUCINOUS ADENOCARCINOMAS 359
THE GENOMIC BASIS OF MORPHOLOGIC HETEROGENEITY 359
MOLECULAR PATHOLOGY OF RARE TUMORS 361
LARGE CELL CARCINOMA 361
ADENOSQUAMOUS CARCINOMA 363
PLEOMORPHIC CARCINOMA 363
LYMPHOEPITHELIAL-LIKE CARCINOMA 363
NUT CARCINOMA 363
PRIMARY SALIVARY GLAND TUMORS OF THE LUNG 365
PAPILLARY TUMORS OF THE LUNG/CILIATED MICRONODULAR PAPILLARY TUMOR 367
TECHNIQUES 369
MOLECULAR METHODS 369
FLUORESCENCE IN SITU HYBRIDIZATION 373
IMMUNOHISTOCHEMISTRY 373
REFERENCES 373
Establishing a Robust Molecular Taxonomy for Diffuse Gliomas of Adulthood 379
ABSTRACT 379
OVERVIEW 379
MUTATIONS IN ISOCITRATE DEHYDROGENASE GENES DISTINGUISH LOWER-GRADE GLIOMAS FROM GLIOBLASTOMA 380
A DEFINED SET OF GENOMIC ABNORMALITIES ROBUSTLY DESIGNATES LOWER-GRADE GLIOMA SUBTYPE 382
ISOCITRATE DEHYDROGENASE–WILD-TYPE GLIOMAS: GLIOBLASTOMA AND BEYOND 383
MOVING TOWARD MORE BIOLOGICALLY RELEVANT GLIOMA SUBCLASSIFICATION 385
MOLECULAR EVOLUTION OF GLIOMA IN THE CONTEXT OF THERAPY 387
SUMMARY AND IMPLICATIONS/IMPACT 388
REFERENCES 388
The Emerging Molecular Landscape of Urothelial Carcinoma 391
ABSTRACT 391
OVERVIEW 391
MOLECULAR PATHOLOGY FEATURES OF UROTHELIAL CARCINOMA 395
TWO-PATHWAY MODEL 395
NONINVASIVE LOW-GRADE PAPILLARY CARCINOMA 395
HIGH-GRADE IN SITU AND INVASIVE DISEASE 396
EARLY SHARED ALTERATIONS 398
FURTHER SUBDIVIDING INVASIVE DISEASE BASED ON MOLECULAR PATHWAYS 398
THERAPEUTIC AND PROGNOSTIC TARGETS 399
SUMMARY 401
REFERENCES 402
Molecular Pathology 405
ABSTRACT 405
OVERVIEW 405
HISTOLOGIC SUBTYPES OF ENDOMETRIAL CARCINOMA (WORLD HEALTH ORGANIZATION CLASSIFICATION) 405
ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA 405
SEROUS CARCINOMA OF THE ENDOMETRIUM 406
CLEAR CELL CARCINOMA OF THE ENDOMETRIUM 406
MUCINOUS ADENOCARCINOMA 406
UNDIFFERENTIATED/DEDIFFERENTIATED CARCINOMA 406
NEUROENDOCRINE CARCINOMA 407
MIXED-TYPE ENDOMETRIAL CARCINOMA 407
CARCINOSARCOMA 408
MORPHOLOGICALLY AMBIGUOUS HIGH-GRADE ENDOMETRIAL ADENOCARCINOMA 408
MOLECULAR SUBTYPES OF ENDOMETRIAL CARCINOMA AND THEIR MORPHOLOGIC CORRELATES 408
ULTRAMUTATED (POLE-MUTATED) ENDOMETRIAL CARCINOMAS 409
MICROSATELLITE INSTABILITY ENDOMETRIAL CANCERS (HYPERMUTATED) 409
LOW-COPY-NUMBER ENDOMETRIAL CARCINOMAS 410
HIGH-COPY-NUMBER ENDOMETRIAL CARCINOMA (SEROUS-LIKE) 410
Molecular Features of Clear Cell Carcinomas 411
Molecular Features of Undifferentiated/Dedifferentiated Carcinomas 411
Molecular Features of Neuroendocrine Carcinomas 411
Molecular Features of Mucinous Endometrial Carcinoma 411
Molecular Features of Carcinosarcomas 411
PROBLEMATIC AREAS IN THE CLASSIFICATION OF ENDOMETRIAL CARCINOMAS AND THE USE OF MOLECULAR ALTERATIONS AS DIAGNOSTIC TOOLS 412
PROGNOSTIC BIOMARKERS IN UTERINE CARCINOMAS 413
PREDICTIVE BIOMARKERS IN UTERINE CANCER 414
HEREDITARY ENDOMETRIAL CARCINOMA 414
MOLECULAR FEATURES OF MALIGNANT UTERINE MESENCHYMAL NEOPLASMS 417
UTERINE LEIOMYOSARCOMA 417
ENDOMETRIAL STROMAL SARCOMA 417
REFERENCES 418
Molecular Evaluation of Colorectal Adenocarcinoma 427
ABSTRACT 427
OVERVIEW 427
MISMATCH REPAIR–DEFICIENT TUMORS AND LYNCH SYNDROME 428
MISMATCH REPAIR PROTEIN EXPRESSION 429
MICROSATELLITE INSTABILITY TESTING 431
MLH1 PROMOTER METHYLATION AND BRAF MUTATION STATUS IN MISMATCH REPAIR–DEFICIENT COLORECTAL CARCINOMA 433
TEST INTEGRATION FOR ASSESSING MISMATCH REPAIR PATHWAY STATUS 433
PROGNOSTIC AND THERAPEUTIC SIGNIFICANCE OF MISMATCH REPAIR DEFICIENCY 434
MISMATCH REPAIR DEFICIENCY AND PROGRAMMED DEATH-1 INHIBITOR THERAPY 435
THE EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY AND INHIBITORS 435
EPIDERMAL GROWTH FACTOR RECEPTOR AND THE RAS/RAF/MEK/ERK PATHWAY 435
EPIDERMAL GROWTH FACTOR RECEPTOR AND THE PHOSPHATIDYLINOSITOL-3-KINASE/AKT/MAMMALIAN TARGET OF RAPAMYCIN PATHWAY 437
SUMMARY AND FUTURE DIRECTIONS 437
REFERENCES 438
Molecular Diagnostics in the Evaluation of Pancreatic Cysts 441
ABSTRACT 441
OVERVIEW 441
PANCREATIC CANCER AND PANCREATIC CYSTS 442
SENDAI AND FUKUOKA GUIDELINES 442
AMERICAN GASTROENTEROLOGICAL ASSOCIATION GUIDELINES 444
PANCREATIC CYSTS AND THEIR GENETICS 446
INTRADUCTAL PAPILLARY MUCINOUS NEOPLASM 446
MUCINOUS CYSTIC NEOPLASM 448
SEROUS CYSTADENOMA 449
SOLID-PSEUDOPAPILLARY NEOPLASM 450
NON-NEOPLASTIC CYSTS 450
DIAGNOSTIC DNA TESTING OF PANCREATIC CYST FLUID 450
INTEGRATION OF DIAGNOSTIC DNA TESTING IN THE MANAGEMENT OF PANCREATIC CYSTS 452
FUTURE TRENDS 452
REFERENCES 454
Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma 457
ABSTRACT 457
OVERVIEW 457
SARCOMAS WITH SIMPLE GENOME 458
TUMORS WITH CHIMERIC TRANSCRIPTION FACTORS: VASCULAR TUMORS 458
TUMORS WITH DEREGULATED KINASE SIGNALING: GASTROINTESTINAL STROMAL TUMOR 460
TUMORS DRIVEN BY ONCOMETABOLITES (VIA EPIGENETIC DEREGULATION): CHONDROSARCOMA 464
TUMORS DRIVEN BY PRIMARY EPIGENETIC DEREGULATION: CHONDROBLASTOMA 466
SARCOMAS WITH COMPLEX GENOME 466
TUMORS WITH CHARACTERISTIC COPY NUMBER ALTERATIONS: DEDIFFERENTIATED LIPOSARCOMA 467
TUMORS WITH HIGHLY COMPLEX KARYOTYPES: OSTEOSARCOMA 468
REFERENCES 468
Molecular Pathology 475
ABSTRACT 475
OVERVIEW 475
KNOWLEDGE DERIVED FROM NEXT-GENERATION SEQUENCING TESTING OF MYELOID NEOPLASMS 475
THE SAME GENETIC ALTERATIONS ARE SHARED AMONG DIVERSE TYPES OF MYELOID NEOPLASMS 476
COMPLEX COMBINATION OF GENETIC ALTERATIONS IS THE RULE, NOT THE EXCEPTION 476
GENETIC ALTERATIONS IN THE SAME PATHWAY TEND TO BE MUTUALLY EXCLUSIVE 476
CLONAL HETEROGENEITY IS A WAY OF LIFE FOR MYELOID NEOPLASMS 477
WHEN MULTIPLE ALTERATIONS ARE PRESENT, TEMPORAL SEQUENCE OF ACQUISITION OF GENETIC ALTERATIONS VARIES AMONG DIFFERENT INDIV ... 477
FOCAL COPY NUMBER ALTERATIONS AND LOSS OF HETEROZYGOSITY (UNIPARENTAL DISOMY) INVISIBLE TO CONVENTIONAL CYTOGENETICS ARE CO ... 479
DIAGNOSTIC UTILITY OF NEXT-GENERATION SEQUENCING–BASED MOLECULAR TESTING IN MYELOID NEOPLASM 479
PATIENTS HAVE CYTOPENIA AND CLINICAL SUSPICION OF MYELODYSPLASIA BUT NO OVERT MORPHOLOGIC ABNORMALITY/DYSPLASIA IS SEEN IN ... 480
UNLIKE CYTOPENIA, MUTATIONS CAN BE DETECTED IN MOST PATIENTS WITH CYTOSIS BY NEXT-GENERATION SEQUENCING–BASED PANEL TESTING 481
PROGNOSTICATION IN PATIENTS WITH NEWLY DIAGNOSED ACUTE MYELOID LEUKEMIA 481
MONITORING DISEASE PROGRESSION FOR PATIENTS WITH EXISTING DIAGNOSIS OF MYELOID NEOPLASM 481
MONITORING BEFORE AND AFTER ALLOGENEIC BONE MARROW TRANSPLANTATION 482
PROGNOSTIC UTILITY OF NEXT-GENERATION SEQUENCING–BASED MOLECULAR TESTING IN MYELOID NEOPLASM 482
RECENT DEVELOPMENT IN PROGNOSTIC IMPACT OF GENE MUTATIONS 483
CEBPA GENE 483
ISOCITRATE DEHYDROGENASE GENES 483
KIT GENE 483
WILMS TUMOR 1 GENE 483
ADDITIONAL SEX COMBS GENE 483
DNA (CYTOSINE-5)-METHYLTRANSFERASE 3A GENE 484
SPLICING FACTOR 3B SUBUNIT 1 GENE 484
SPLICING FACTORS OTHER THAN SF3B1 (SRSF2, U2AF1, AND ZRSR2) 484
RUNT-RELATED TRANSCRIPTION FACTOR 1 GENE 484
TUMOR PROTEIN P53 GENE 484
SUMMARY 484
REFERENCES 485
Molecular Pathology 489
ABSTRACT 489
OVERVIEW 489
MATURE B-CELL LYMPHOID NEOPLASMS 489
CHRONIC LYMPHOCYTIC LEUKEMIA/SMALL LYMPHOCYTIC LYMPHOMA 489
Clinical Features 489
Histologic Features and Immunophenotypic Profile 489
Molecular Diagnostic and Prognostic Markers 490
Targeted Therapies 493
BURKITT LYMPHOMA 493
Clinical Features 493
Histologic Features and Immunophenotypic Profile 493
Molecular Diagnostic and Prognostic Markers 493
FOLLICULAR LYMPHOMA 495
Clinical Features 495
Histologic Features and Immunophenotypic Profile 495
Molecular Diagnostic and Prognostic Markers 496
Targeted Therapies 496
DIFFUSE LARGE B-CELL LYMPHOMA, NOT OTHERWISE SPECIFIED 496
Clinical and Histologic Features 496
Molecular Diagnostic and Prognostic Markers 498
Targeted Therapies 501
HAIRY CELL LEUKEMIA 501
Clinical Features 501
Histologic Features and Immunophenotypic Profile 501
Molecular Diagnostic and Prognostic Markers 501
Targeted Therapies 503
LYMPHOPLASMACYTIC LYMPHOMA 503
Clinical, Histologic Features, and Immunophenotypic Profile 503
Molecular Diagnostic and Prognostic Markers 503
Targeted Therapies 506
MATURE T-CELL LYMPHOID NEOPLASMS 506
ANGIOIMMUNOBLASTIC T-CELL LYMPHOMA 506
Clinical and Histologic Features 506
Histologic Features and Immunophenotypic Profile 506
Molecular Diagnostic and Prognostic Markers 506
Targeted Therapies 510
T-CELL LARGE GRANULAR LYMPHOCYTIC LEUKEMIA 511
Clinical Features 511
Histologic Features and Immunophenotypic Profile 511
Molecular Diagnostic and Prognostic Markers 511
Targeted Therapies 512
SUMMARY 514
REFERENCES 514