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The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2016, Volume 40, Issue 11, pp. 1457 - 1472
Journal Article
Cancer research, ISSN 0008-5472, 12/2018, Volume 78, Issue 23, pp. 6539 - 6548
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an inherited cancer syndrome associated with a highly aggressive form of type 2 papillary renal... 
HLRCC | ABL1 | q-oxPTPome | Oxidation | PTPN12
Journal Article
Endocrine-Related Cancer, ISSN 1351-0088, 08/2015, Volume 22, Issue 4, pp. 633 - 643
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 05/2016, Volume 40, Issue 5, pp. 599 - 607
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 11/2015, Volume 39, Issue 11, pp. 1529 - 1539
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 07/2017, Volume 18, Issue 1, pp. 79 - 5
Background: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in... 
Case report | Hereditary cancer | Fumarate hydratase deficiency | Hereditary leiomyomatosis and renal cell cancer (HLRCC) | HLRCC | FAMILIES | GENETICS & HEREDITY | HEREDITARY LEIOMYOMATOSIS | SPECTRUM | CARCINOMA | RENAL-CELL CANCER | DEFICIENCY | Kidney Neoplasms - genetics | Humans | Carcinoma, Renal Cell - genetics | Infant | Psychomotor Disorders - complications | Fumarate Hydratase - deficiency | Kidney Neoplasms - diagnosis | Muscle Hypotonia - diagnosis | Psychomotor Disorders - genetics | Germ-Line Mutation | Female | Kidney Neoplasms - complications | Muscle Hypotonia - complications | Genetic Predisposition to Disease | Muscle Hypotonia - genetics | Carcinoma, Renal Cell - pathology | Early Detection of Cancer | Psychomotor Disorders - pathology | Fumarate Hydratase - genetics | Metabolism, Inborn Errors - genetics | Muscle Hypotonia - pathology | Metabolism, Inborn Errors - diagnosis | Carcinoma, Renal Cell - diagnosis | Psychomotor Disorders - diagnosis | Kidney Neoplasms - pathology | Metabolism, Inborn Errors - pathology | Metabolism, Inborn Errors - complications | Fumarase | Research | Diagnosis | Gene mutations | Kidney cancer | Tricarboxylic acid cycle | Genes | Citric acid | Chromosome 1 | Hereditary diseases | Abdomen | Fumarate hydratase | Parents & parenting | Ultrasonic imaging | Cysts | Surveillance | Fumaric acid | Encephalopathy | Children | Mutation | Age | Clear cell-type renal cell carcinoma | Seizures | Kidney transplantation | Tumors | Cancer
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 09/2019, Volume 43, Issue 9, pp. 1170 - 1179
Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC), caused by a germline mutation in the fumarate hydratase (FH) gene, predisposes patients to... 
SURGERY | morphology | SUSCEPTIBILITY | PATHOLOGY | CANCER | TUMORS | FEATURES | HLRCC | fumarate hydratase | FAMILIES | SURVEILLANCE | MUTATIONS | KIDNEY | UTERINE LEIOMYOMAS | FH IHC
Journal Article
Advances in Anatomic Pathology, ISSN 1072-4109, 2018, Volume 25, Issue 2, pp. 96 - 105
The topic of hereditary gynecologic malignancies readily evokes associations between Lynch syndrome and endometrial adenocarcinoma, or between BRCA mutations... 
smooth muscle tumor | uterus | HLRCC | PEComa | TSC | fumarate hydratase | CANCER HLRCC SYNDROME | LYMPH-NODE LYMPHANGIOLEIOMYOMATOSIS | LEIOMYOMAS | PATHOLOGY | NEOPLASM PECOMA | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | SMOOTH-MUSCLE TUMORS | TUBEROUS SCLEROSIS | MORPHOLOGIC SPECTRUM | RENAL-CELL-CARCINOMA | OF-THE-LITERATURE | Care and treatment | Tumors
Journal Article
Cancer, ISSN 0008-543X, 07/2017, Volume 123, Issue 13, pp. 2452 - 2458
BACKGROUND Patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) resulting from fumarate hydratase (FH) mutations may present with skin,... 
hereditary leiomyomatosis and renal cell carcinoma (HLRCC) | renal cell carcinoma | pathology | histology | fumarate hydratase | genetic testing | diagnosis | CLASSIFICATION | CANCER | TUMORS | FEATURES | ONCOLOGY | FAMILIES | HLRCC SYNDROME | MUTATIONS | SPECTRUM | UTERINE LEIOMYOMAS | Kidney Neoplasms - genetics | Neoplastic Syndromes, Hereditary - pathology | Genetic Testing | Uterine Neoplasms - pathology | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Male | Leiomyoma - pathology | Urinary Bladder Neoplasms - genetics | Leiomyomatosis - pathology | Urinary Bladder Neoplasms - pathology | Adult | Female | Neoplastic Syndromes, Hereditary - genetics | Retrospective Studies | Skin Neoplasms - pathology | Uterine Neoplasms - genetics | Carcinoma, Renal Cell - pathology | Fumarate Hydratase - genetics | Skin Neoplasms - genetics | Kidney Neoplasms - pathology | Mutation | Leiomyomatosis - genetics | Neoplasm Staging | Leiomyoma - genetics | Cohort Studies | Pathology | Cancer patients | Usage | Care and treatment | Genetic aspects | Carcinoma, Renal cell | Health aspects | Evaluation | Test procedures | Health risks | Bladder | Event-related potentials | Medical screening | Patients | Genetic screening | Metastases | Fumarate hydratase | Uterus | Urinary bladder | Kidney cancer | Skin | Diagnostic systems | Age | Clear cell-type renal cell carcinoma | Tumors | Cancer | Kidney transplantation
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 01/2020, Volume 44, Issue 1, pp. 98 - 110
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare and recently described entity associated with hereditary leiomyomatosis and RCC... 
SURGERY | DIFFERENTIAL-DIAGNOSIS | COLLECTING DUCT CARCINOMA | HEREDITARY LEIOMYOMATOSIS | hereditary leiomyomatosis and renal cell carcinoma | PATHOLOGY | CANCER HLRCC | renal cell carcinoma | PAX8 | PATTERN | GENE | fumarate hydratase | GERMLINE MUTATIONS | molecular | immunohistochemistry | UTERINE LEIOMYOMAS | KIDNEY TUMORS
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 07/2016, Volume 40, Issue 7, pp. 865 - 875
Journal Article