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Gynecologic Pathology, An Issue of Surgical Pathology Clinics, E-Book

Gynecologic Pathology, An Issue of Surgical Pathology Clinics, E-Book

Blaise Clarke | Glenn McCluggage

(2016)

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Book Details

Abstract

This issue of the Surgical Pathology Clinics, edited by Drs. Blaise Clarke and Glenn McCluggage, focuses on Gynecologic Pathology. Topics covered in the issue include, but are not limited to: Gynecologic manifestations of the DICER1 syndrome; Prophylactic gynecologic specimens from hereditary cancer carriers; Lynch syndrome associated endometrial cancer; Peutz-jeghers syndrome associated gynecologic tumors; Gynecologic manifestations of less commonly encountered hereditary syndromes; and Clinical testing for hereditary predisposition.


Table of Contents

Section Title Page Action Price
Front Cover Cover
Gynecologic Pathology i
Copyright ii
Contributors iii
CONSULTING EDITOR iii
EDITORS iii
AUTHORS iii
Contents v
Preface: Gynecologic Pathology v
Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes v
Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening v
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Devel ... v
Gynecologic Manifestations of the DICER1 Syndrome v
Peutz-Jeghers Syndrome: Pathobiology, Pathologic Manifestations, and Suggestions for Recommending Genetic Testing in Pathol ... vi
Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes vi
Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma vi
Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis? vi
Prophylactic Gynecologic Specimens from Hereditary Cancer Carriers vii
Special Article vii
Image Analysis in Surgical Pathology vii
SURGICAL PATHOLOGY CLINICS viii
FORTHCOMING ISSUES viii
September 2016 viii
December 2016 viii
March 2017 viii
RECENT ISSUES viii
March 2016 viii
December 2015 viii
September 2015 viii
Preface:\rGynecologic Pathology ix
Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes 189
ABSTRACT 189
OVERVIEW 189
OVARIAN CARCINOMA 190
HIGH-GRADE SEROUS CARCINOMA 190
LOW-GRADE SEROUS CARCINOMA 191
CLEAR CELL CARCINOMA 191
ENDOMETRIOID CARCINOMA 192
MUCINOUS CARCINOMA 192
OVARIAN CARCINOMA: HISTOTYPE DIFFERENTIAL DIAGNOSIS 192
HEREDITARY BREAST AND OVARIAN CANCER SYNDROME 193
LYNCH SYNDROME (HEREDITARY NONPOLYPOSIS COLORECTAL CANCER SYNDROME) 194
SUMMARY 196
REFERENCES 196
Lynch Syndrome 201
ABSTRACT 201
OVERVIEW 201
FUNCTION OF DNA MISMATCH REPAIR GENES 202
LYNCH SYNDROME FEMALE GENITAL TRACT TUMORS 202
LYNCH SYNDROME FEMALE GENITAL TRACT CANCER RISK DIFFERS BY MUTATIONAL STATUS 204
SCREENING FOR LYNCH SYNDROME 204
TESTING FOR LYNCH SYNDROME 205
GERMLINE MUTATIONAL ANALYSIS 205
IMMUNOHISTOCHEMISTRY FOR DNA MISMATCH REPAIR PROTEINS 205
MICROSATELLITE INSTABILITY ANALYSIS 206
MLH1 PROMOTER METHYLATION ASSAY 207
DNA MISMATCH REPAIR GENE MUTATION ANALYSIS 208
SOMATIC MUTATIONAL ANALYSIS 209
PROGNOSTIC AND THERAPEUTIC IMPLICATIONS OF MISMATCH REPAIR ABNORMALITIES IN ENDOMETRIAL AND OVARIAN CARCINOMA 209
SURVEILLANCE AND RISK-REDUCING STRATEGIES FOR ENDOMETRIAL AND OVARIAN CARCINOMAS IN LYNCH SYNDROME 211
SUMMARY 211
REFERENCES 211
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary) 215
ABSTRACT 215
OVERVIEW AND HISTORY OF THE DISEASE 216
CLINICAL PRESENTATION AND OUTCOME 216
PATHOLOGY OF SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 217
GENETICS AND HISTOGENESIS OF SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 217
USING IMMUNOHISTOCHEMISTRY TO DIAGNOSE SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 219
MANAGEMENT OF SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 220
CURRENT AND FUTURE RESEARCH 220
DIAGNOSTIC/GENETIC TESTING ALGORITHM FOR SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 221
DIFFERENTIAL DIAGNOSIS OF SMALL-CELL CARCINOMA OF THE OVARY OF HYPERCALCEMIC TYPE 221
SEX CORD–STROMAL TUMORS 222
OVARIAN SMALL-CELL CARCINOMA OF PULMONARY TYPE (SMALL-CELL NEUROENDOCRINE CARCINOMA) 222
DESMOPLASTIC SMALL ROUND CELL TUMOR 223
EWING FAMILY OF TUMORS 223
MISCELLANEOUS NEOPLASMS 224
REFERENCES 224
Gynecologic Manifestations of the DICER1 Syndrome 227
ABSTRACT 227
MOLECULAR OVERVIEW OF DICER1 227
OVARIAN SEX CORD–STROMAL TUMORS 229
BACKGROUND AND CLINICAL FEATURES 229
HISTOLOGIC FEATURES 230
DIFFERENTIAL DIAGNOSIS 233
PROGNOSIS 236
CERVICAL EMBRYONAL RHABDOMYOSARCOMA 236
BACKGROUND AND CLINICAL FEATURES 236
HISTOLOGIC FEATURES 236
DIFFERENTIAL DIAGNOSIS 237
PROGNOSIS 239
OTHER OVARIAN NEOPLASMS POSSIBLY LINKED TO DICER1 SYNDROME 239
ACKNOWLEDGMENTS 239
REFERENCES 239
Peutz-Jeghers Syndrome 243
ABSTRACT 243
OVERVIEW 243
INTRODUCTION 244
HISTORY OF THE DISEASE 244
CLINICAL FEATURES 244
PATHOBIOLOGICAL UNDERPINNINGS 245
GYNECOLOGIC TUMORS IN PEUTZ-JEGHERS SYNDROME 246
SEX CORD TUMOR WITH ANNULAR TUBULES 246
Brief Introduction 246
Gross Features 246
Microscopic Features 247
Differential Diagnosis 248
Diagnosis 248
Prognosis 250
OVARIAN SERTOLI CELL TUMOR 251
Brief Introduction 251
Gross Features 251
Microscopic Features 251
Differential Diagnosis 251
Diagnosis 254
Prognosis 254
GASTRIC-TYPE ENDOCERVICAL ADENOCARCINOMA 255
Brief Introduction 255
Gross Features 255
Microscopic Features 255
Differential Diagnosis 255
Diagnosis 255
Prognosis 257
EXTREMELY WELL-DIFFERENTIATED GASTRIC-TYPE ADENOCARCINOMA AND LOBULAR ENDOCERVICAL GLANDULAR HYPERPLASIA 258
Brief Introduction 258
Gross Features 258
Microscopic Features 258
Differential Diagnosis 259
Diagnosis 261
Prognosis 261
RECOMMENDATIONS FOR SCREENING, MANAGEMENT, AND ADDITIONAL GENETIC TESTING 263
REFERENCES 265
Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes 269
ABSTRACT 269
HEREDITARY LEIOMYOMATOSIS RENAL CELL CARCINOMA SYNDROME 269
CLINICAL FEATURES 269
GROSS/MICROSCOPIC FEATURES AND DIAGNOSIS 269
DIFFERENTIAL DIAGNOSIS 271
PROGNOSIS 271
TUBEROUS SCLEROSIS COMPLEX 271
LYMPHANGIOLEIOMYOMATOSIS 272
PERIVASCULAR EPITHELIOID CELL TUMOR 272
DIFFERENTIAL DIAGNOSIS 274
PROGNOSIS 275
COWDEN SYNDROME 275
CLINICAL FEATURES 276
PTEN AND ENDOMETRIAL CANCER 276
PROGNOSIS 276
NEVOID BASAL CELL CARCINOMA SYNDROME 277
CLINICAL FEATURES 278
GROSS/MICROSCOPIC FEATURES AND DIAGNOSIS 278
DIFFERENTIAL DIAGNOSIS 278
PROGNOSIS 280
VON HIPPEL-LINDAU SYNDROME 280
CLINICAL FEATURES 280
GROSS/MICROSCOPIC FEATURES AND DIAGNOSIS 280
DIFFERENTIAL DIAGNOSIS 280
PROGNOSIS 281
MAFFUCCI SYNDROME AND OLLIER DISEASE 281
CLINICAL FEATURES 282
GROSS/MICROSCOPIC FEATURES AND DIAGNOSIS 282
DIFFERENTIAL DIAGNOSIS 282
PROGNOSIS 283
CARNEY COMPLEX 283
OVARIAN LESIONS IN CARNEY COMPLEX 283
DIFFERENTIAL DIAGNOSIS 283
PROGNOSIS 284
REFERENCES 284
Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma 289
ABSTRACT 289
LYNCH SYNDROME 289
TUMOR TESTING AND PITFALLS IN TEST INTERPRETATION 290
Immunohistochemistry 290
Microsatellite Instability and MLH1 Methylation Analyses 291
DISCREPANCIES BETWEEN TISSUE TESTING AND GENETIC TESTING 292
Known Mismatch Repair Gene Mutations and Ambiguous or Normal Tissue Testing Results 292
Abnormal Tissue Testing Results and No Detectable Mismatch Repair Gene Mutations 293
STRATEGIES AND CHALLENGES OF SCREENING FOR LYNCH SYNDROME IN ENDOMETRIAL CARCINOMA 295
PATHOLOGIC FEATURES OF LYNCH SYNDROME–ASSOCIATED ENDOMETRIAL CANCER 296
REFERENCES 297
Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis? 301
ABSTRACT 301
OVERVIEW 301
GENETIC TESTING 302
HISTORIC METHODS 302
CURRENT TESTING METHODS 302
WHEN IS A GENE READY FOR ROUTINE CANCER PREDISPOSITION TESTING? 303
SINGLE-GENE VERSUS GENE PANEL VERSUS WHOLE-EXOME VERSUS WHOLE-GENOME APPROACHES TO CLINICAL GENETIC TESTING 303
SOMATIC GENETIC TESTING OR GERMLINE GENETIC TESTING? 304
OPTIMIZING ACCESS TO GENETIC TESTING FOR HEREDITARY PREDISPOSITION TO GYNECOLOGIC CANCERS 305
REFERENCES 305
Prophylactic Gynecologic Specimens from Hereditary Cancer Carriers 307
ABSTRACT 307
OVERVIEW 307
MUTATIONS OF BRCA1 AND BRCA2 AND PREVENTION OF HIGH-GRADE SEROUS CARCINOMA 309
PROCESSING OF RISK-REDUCING SALPINGO-OOPHORECTOMY SPECIMENS 309
GROSS FEATURES 310
OCCULT HIGH-GRADE SEROUS CARCINOMA 310
MICROSCOPIC 311
SEROUS TUBAL INTRAEPITHELIAL CARCINOMA 312
MICROSCOPIC 313
SEROUS TUBAL INTRAEPITHELIAL LESION 318
Image Analysis in Surgical Pathology 329
ABSTRACT 329
OVERVIEW 329
PROCESSES 330
IMAGE SEGMENTATION 330
Splitting 331
Thresholding, Watershedding, and/or Histogram-Based Techniques 332
Clustering 332
Edge Detection 332
Partial-Differential Equations 332
Graph Partitioning 332
Trainable Techniques 332
STATISTICAL CLASSIFICATION 332
Markov Chains and Markov Meshes 333
Naive Bayes Classifiers 333
Support Vector Machines 333
Regression 333
Random Forest Classifiers 334
FEATURE EXTRACTION, RESULT GENERATION, INTERPRETATION, AND REPORTING 334
IMAGE ANALYSIS FOR BASIC AND TRANSLATIONAL RESEARCH USE 334
IMAGE ANALYSIS FOR CLINICAL USE 335
SUMMARY 335
REFERENCES 335