Database : MEDLINE
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[PMID]: 29356723
[Au] Autor:Verine J; Colin D; Nheb M; Prapotnich D; Ploussard G; Cathelineau X; Desgrandchamps F; Mongiat-Artus P; Feugeas JP
[Ad] Address:Department of Pathology, Saint-Louis Hospital, AP-HP.
[Ti] Title:Architectural Patterns are a Relevant Morphologic Grading System for Clear Cell Renal Cell Carcinoma Prognosis Assessment: Comparisons With WHO/ISUP Grade and Integrated Staging Systems.
[So] Source:Am J Surg Pathol;42(4):423-441, 2018 Apr.
[Is] ISSN:1532-0979
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We developed and validated an architecture-based grading for clear cell renal cell carcinoma (ccRCC) in an observational retrospective cohort study including 506 tumors (principal cohort, n=254; validation cohort, n=252). Study endpoints were disease-free survival (DFS) and cancer-specific survival (CSS). Relationships with outcome were analyzed using Harrell concordance index, time-dependent receiver operating characteristic curve, area under curve, and Cox regression model. An architecture-based grading was devised on positive likelihood ratio (LR+) for DFS at 50 months as follows: grade 1 (LR+<0.8), cystic, compact, acinar, clear cell papillary RCC-like, and/or regressive patterns; grade 2 (1.2≤LR+<5), large nest, alveolar, papillary, chromophobe/oncocytic cell-like, eosinophilic hyaline globule, and/or intratumoral inflammatory reaction patterns; grade 3 (5≤LR+<10), rhabdoid, tumor giant cell, enlarged vascular space, and/or hereditary leiomyomatosis renal cell carcinoma (HLRCC)-like patterns; grade 4 (LR+≥10), sarcomatoid, infiltrative growth patterns, and lymphatic invasion. In the principal cohort, 3-tier (grades 1-2, 3, and 4) and 4-tier architectural scores outperformed World Health Organization/International Society of Urological Pathology, and World Health Organization/ International Society of Urological Pathology+necrosis gradings for DFS and CSS, and constituted an independent predictor for DFS (hazard ratio [HR]=5.91; P<6.7E-10) and CSS (HR=4.49; P=2.2E-03), retained in the localized (pT1-3N0M0) ccRCC subgroup (HR=6.10; P=1.3E-07 for DFS, and HR=20.09; P=9.4E-05 for CSS). On comparing with integrated staging systems, architectural grade with 1 morphologic datum remained an independent predictor of CSS, as did University of California Los Angeles Integrated Staging System and SSIGN, and was associated with the highest HR (HR=2.60; P=9.1E-04 in all patients; HR=4.38; P=2.0E-05 in the localized ccRCC subgroup). Architecture-based score for ccRCC outperforms all other morphologic grading systems and constitutes an independent predictor for DFS and CSS. As the predictive values of 3-tier and 4-tier architecture-based scores were similar throughout the study, we proposed to keep the simplified version as the final score, and to define 3 risk groups as follows: low risk (grades 1 to 2), intermediate risk (grade 3), and high risk (grade 4).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1097/PAS.0000000000001025

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[PMID]: 29517197
[Au] Autor:Kuroda N; Ohe C; Kato I; Furuya M; Baba M; Nagashima Y; Nakatani Y; Murakami I; Zhou M; Michal M; He O; Amin MB
[Ti] Title:Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors.
[So] Source:Pol J Pathol;68(4):284-290, 2017.
[Is] ISSN:1233-9687
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:The entity of hereditary leiomyomatosis renal cell carcinoma (HLRCC)-associated RCC has been proposed and integrated into the recent International Society of Urologic Pathology (ISUP) of renal tumors. This tumor is characterized by presence of cutaneous and/or uterine leiomyomas and RCC and autosomal dominant hereditary form. Grossly, HLRCC arising in the kidney show the solid tumor with frequent partial cystic area. Microscopically, the tumor typically shows papillary RCC, type 2, with eosinophilic large nucleoli reminiscent of cytomegaloviral inclusion and perinuclear clearing/haloes. Immunohistochemically, tumor cells show the overexpression for 2SC and reduced expression of FH. Germline mutation of fumarate hydratase (FH) gene, the HLRCC responsible gene mapped to chromosome 1q43, has been identified in patients with HLRCC. As the renal cancer in patients with HLRCC generally behave aggressively even in a small size, complete surgical resection and retroperitoneal lymph node resection should be performed promptly when the tumor is discovered. The surveillance of renal tumor in FH gene germline mutation-positive patients should be started from the early age using ultrasound sonography or magnetic resonance imaging.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review

  3 / 1730 MEDLINE  
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[PMID]: 29514177
[Au] Autor:Liu J; Liang M; Ma G; Liu X; Cheng N; Cao D; Yu C; Du S; Miao Q; Zhang C
[Ad] Address:Department of Cardiac Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
[Ti] Title:Surgical treatment for intravenous-cardiac leiomyomatosis.
[So] Source:Eur J Cardiothorac Surg;, 2018 Mar 03.
[Is] ISSN:1873-734X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:OBJECTIVES: There are few published studies on the rare disorder of intravenous-cardiac leiomyomatosis (IVCL). This study aimed to propose an individualized strategy for surgical treatment of IVCL. METHODS: In this retrospective study, we reviewed 50 patients who had undergone IVCL removal from November 2002 to October 2017 in our hospital. IVCL was classified as Type A-E according to the extent and size, with Type E being the most severe. Clinical manifestations, surgical features and follow-up data were analysed. RESULTS: Of the 50 patients in this series, 8 had Type A IVCL, 8 Type B, 29 Type C, 2 Type D and 3 Type E IVCL. One-stage removal of IVCL was performed via laparotomy without cardiopulmonary bypass (CPB) in the 8 patients with Type A, 1-stage tumour resection via sternolaparotomy under deep hypothermic arrest in 7 of the 8 patients with Type B and IVCL removal via sternolaparotomy under CPB, with 27 also under deep hypothermic arrest, in all 29 patients with Type C. Sixteen of the patients with Type C IVCL underwent staged procedures, 13 a 1-stage procedure and 21 required hepatic mobilization. All patients with Type C or E cases underwent 1-stage tumour removal via sternolaparotomy under deep hypothermic arrest. All 50 patients survived surgery. IVCL was confirmed postoperatively by histology. Ten patients had residual tumours; 9 of which did not progress. No deaths occurred during 47.8 ± 38.4 (range 1-177) months of follow-up. CONCLUSIONS: The only known curative treatment for IVCL is surgery. Herein, we present an individualized strategy for selecting surgical treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1093/ejcts/ezy084

  4 / 1730 MEDLINE  
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[PMID]: 29510641
[Au] Autor:Regász V; Bohác V; Rychnovský J
[Ti] Title:Intravenózní leiomyomatóza jako vzácný nádor myometria. [Intravenous leiomyomatosis as a rare tumor of myometrium].
[So] Source:Ceska Gynekol;83(1):53-56, 2018.
[Is] ISSN:1210-7832
[Cp] Country of publication:Czech Republic
[La] Language:cze
[Ab] Abstract:AIM: To present a case of a woman diagnosed with intravenous leiomyomatosis of the uterus. TYPE OF STUDY: Case report. SETTING: Department of Obstetrics & Gynaecology, Stredomoravská nemocnicní a.s., Prerov Hospital. CASE REPORT: A 39-year old woman was referred to our unit with uterine fibroids, dysfunctional uterine bleeding and anaemia. Abdominal hysterectomy was performed. The histopathological analysis diagnosed the presence of intravenous leiomyomatosis. After a thorough literature review, we decided to perform an adnexectomy. It was not possible to perform this laparoscopically due to adhesions from previous operation. A conversion to open surgery was necessary. CONCLUSION: Intravenous leiomyomatosis is a rare clinical condition characterised by the ability of the leiomyoma to spread outside the uterus via the venous system. The diagnosis is difficult to obtain and can only be made after histopathological examination. There are no universal treatment guidelines in place at present.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review

  5 / 1730 MEDLINE  
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[PMID]: 29325224
[Au] Autor:Hasumi H; Yao M
[Ad] Address:Department of Urology, Yokohama City University, Yokohama, Japan.
[Ti] Title:Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.
[So] Source:Cancer Sci;109(3):581-586, 2018 Mar.
[Is] ISSN:1349-7006
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Although hereditary kidney cancer syndrome accounts for approximately five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, USA and the first kidney cancer-associated gene, VHL, was identified through kindred analysis of von Hippel-Lindau (VHL) syndrome in 1993. Subsequent molecular studies on VHL function have elucidated that the VHL protein is a component of E3 ubiquitin ligase complex for hypoxia-inducible factor (HIF), which provided the basis for the development of tyrosine kinase inhibitors targeting the HIF-VEGF/PDGF pathway. Recent whole-exome sequencing analysis of sporadic kidney cancer exhibited the recurrent mutations in chromatin remodeling genes and the later study has revealed that several chromatin remodeling genes are altered in kidney cancer kindred at the germline level. To date, more than 10 hereditary kidney cancer syndromes together with each responsible gene have been characterized and most of the causative genes for these genetic disorders are associated with either metabolism or epigenome regulation. In this review article, we describe the molecular mechanisms of how an alteration of each kidney cancer-associated gene leads to renal tumorigenesis as well as denote therapeutic targets elicited by studies on hereditary kidney cancer.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1111/cas.13503

  6 / 1730 MEDLINE  
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[PMID]: 29202956
[Au] Autor:Bray MJ; Edwards TL; Wellons MF; Jones SH; Hartmann KE; Velez Edwards DR
[Ad] Address:Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee.
[Ti] Title:Admixture mapping of uterine fibroid size and number in African American women.
[So] Source:Fertil Steril;108(6):1034-1042.e26, 2017 Dec.
[Is] ISSN:1556-5653
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To evaluate the relationship between genetic ancestry and uterine fibroid characteristics. DESIGN: Cross-sectional study. SETTING: Not applicable. PATIENT(S): A total of 609 African American participants with image- or surgery-confirmed fibroids in a biorepository at Vanderbilt University electronic health record biorepository and the Coronary Artery Risk Development in Young Adults studies were included. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Outcome measures include fibroid number (single vs. multiple), volume of largest fibroid, and largest fibroid dimension of all fibroid measurements. RESULT(S): Global ancestry meta-analyses revealed a significant inverse association between percentage of European ancestry and risk of multiple fibroids (odds ratio: 0.78; 95% confidence interval 0.66, 0.93; P=6.05 × 10 ). Local ancestry meta-analyses revealed five suggestive (P<4.80 × 10 ) admixture mapping peaks in 2q14.3-2q21.1, 3p14.2-3p14.1, 7q32.2-7q33, 10q21.1, 14q24.2-14q24.3, for number of fibroids and one suggestive admixture mapping peak (P<1.97 × 10 ) in 10q24.1-10q24.32 for volume of largest fibroid. Single variant association meta-analyses of the strongest associated region from admixture mapping of fibroid number (10q21.1) revealed a strong association at single nucleotide polymorphism variant rs12219990 (odds ratio: 0.41; 95% confidence interval 0.28, 0.60; P=3.82 × 10 ) that was significant after correction for multiple testing. CONCLUSION(S): Increasing African ancestry is associated with multiple fibroids but not with fibroid size. Local ancestry analyses identified several novel genomic regions not previously associated with fibroid number and increasing volume. Future studies are needed to explore the genetic impact that ancestry plays into the development of fibroid characteristics.
[Mh] MeSH terms primary: African Americans/genetics
Biomarkers, Tumor/genetics
Leiomyoma/genetics
Leiomyoma/pathology
Leiomyomatosis/genetics
Leiomyomatosis/pathology
Tumor Burden/genetics
Uterine Neoplasms/genetics
Uterine Neoplasms/pathology
[Mh] MeSH terms secundary: Adult
Biological Specimen Banks
Cross-Sectional Studies
Databases, Factual
Electronic Health Records
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Heredity
Humans
Leiomyoma/ethnology
Leiomyomatosis/ethnology
Linear Models
Logistic Models
Middle Aged
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Risk Factors
United States/epidemiology
Uterine Neoplasms/ethnology
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS; MULTICENTER STUDY
[Nm] Name of substance:0 (Biomarkers, Tumor)
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[Js] Journal subset:IM
[Da] Date of entry for processing:171206
[St] Status:MEDLINE

  7 / 1730 MEDLINE  
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[PMID]: 29454577
[Au] Autor:Moch H; Ohashi R; Gandhi JS; Amin MB
[Ad] Address:Department of Pathology and Molecular Pathology, University and University Hospital Zurich, Switzerland. Electronic address: holger.moch@usz.ch.
[Ti] Title:Morphological clues to the appropriate recognition of hereditary renal neoplasms.
[So] Source:Semin Diagn Pathol;, 2018 Feb 14.
[Is] ISSN:0740-2570
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. This review provides a comprehensive review of the known sub-types of renal cell carcinoma that have a predilection to occur in the setting of hereditary disease; examples include renal cancers occurring in the background of von Hippel Lindau disease, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis, Birt Hogg Dube syndrome and succinate dehydrogenase deficiency. Herein we focus on diagnostic clues for renal tumors occurring in a non-pediatric setting that should prompt their correct recognition and reiterate the importance of the correct diagnosis.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180218
[Lr] Last revision date:180218
[St] Status:Publisher

  8 / 1730 MEDLINE  
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[PMID]: 29309300
[Au] Autor:Ohe C; Smith SC; Sirohi D; Divatia M; de Peralta-Venturina M; Paner GP; Agaimy A; Amin MB; Argani P; Chen YB; Cheng L; Colecchia M; Compérat E; Werneck da Cunha I; Epstein JI; Gill AJ; Hes O; Hirsch MS; Jochum W; Kunju LP; Maclean F; Magi-Galluzzi C; McKenney JK; Mehra R; Nesi G; Osunkoya AO; Picken MM; Rao P; Reuter VE; de Oliveira Salles PG; Schultz L; Tickoo SK; Tomlins SA; Trpkov K; Amin MB
[Ad] Address:Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA.
[Ti] Title:Reappraisal of Morphologic Differences Between Renal Medullary Carcinoma, Collecting Duct Carcinoma, and Fumarate Hydratase-deficient Renal Cell Carcinoma.
[So] Source:Am J Surg Pathol;42(3):279-292, 2018 Mar.
[Is] ISSN:1532-0979
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Renal medullary carcinomas (RMCs) and collecting duct carcinomas (CDCs) are rare subsets of lethal high-stage, high-grade distal nephron-related adenocarcinomas with a predilection for the renal medullary region. Recent findings have established an emerging group of fumarate hydratase (FH)-deficient tumors related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC-RCCs) syndrome within this morphologic spectrum. Recently developed, reliable ancillary testing has enabled consistent separation between these tumor types. Here, we present the clinicopathologic features and differences in the morphologic patterns between RMC, CDC, and FH-deficient RCC in consequence of these recent developments. This study included a total of 100 cases classified using contemporary criteria and ancillary tests. Thirty-three RMCs (SMARCB1/INI1-deficient, hemoglobinopathy), 38 CDCs (SMARCB1/INI1-retained), and 29 RCCs defined by the FH-deficient phenotype (FH/2SC or FH/2SC with FH mutation, regardless of HLRCC syndromic stigmata/history) were selected. The spectrum of morphologic patterns was critically evaluated, and the differences between the morphologic patterns present in the 3 groups were analyzed statistically. Twenty-five percent of cases initially diagnosed as CDC were reclassified as FH-deficient RCC on the basis of our contemporary diagnostic approach. Among the different overlapping morphologic patterns, sieve-like/cribriform and reticular/yolk sac tumor-like patterns favored RMCs, whereas intracystic papillary and tubulocystic patterns favored FH-deficient RCC. The tubulopapillary pattern favored both CDCs and FH-deficient RCCs, and the multinodular infiltrating papillary pattern favored CDCs. Infiltrating glandular and solid sheets/cords/nested patterns were not statistically different among the 3 groups. Viral inclusion-like macronucleoli, considered as a hallmark of HLRCC-RCCs, were observed significantly more frequently in FH-deficient RCCs. Despite the overlapping morphology found among these clinically aggressive infiltrating high-grade adenocarcinomas of the kidney, reproducible differences in morphology emerged between these categories after rigorous characterization. Finally, we recommend that definitive diagnosis of CDC should only be made if RMC and FH-deficient RCC are excluded.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Data-Review
[do] DOI:10.1097/PAS.0000000000001000

  9 / 1730 MEDLINE  
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[PMID]: 29423582
[Au] Autor:Bhola PT; Gilpin C; Smith A; Graham GE
[Ad] Address:Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada. pbhola@cheo.on.ca.
[Ti] Title:A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
[So] Source:Fam Cancer;, 2018 Feb 08.
[Is] ISSN:1573-7292
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by autosomal dominant germline mutations in the fumarate hydratase (FH) gene and is characterized by cutaneous leiomyomas, uterine leiomyomas and aggressive renal malignancies. We conducted a retrospective chart review to characterize the patients referred to our Regional Genetics Program for assessment of HLRCC from 2004 to mid-2016. Forty-eight of 69 (69.5%) referred individuals were positive for a pathogenic or likely pathogenic variant in FH; they had an average age of 39.1 years. There were 11 different FH variants among them. As expected, the most sensitive indications for a positive genetic test were papillary renal cell carcinoma (RCC) at a young age (5/5; 100%) and multiple cutaneous leiomyomas (18/19; 95%). However, only twenty-two of 48 (46%) individuals with a positive molecular test had cutaneous leiomyomas, which is considerably lower than previously reported and supports the likelihood of ascertainment bias in previous reports. Notably, we have experience with 1 large family in which there were no cutaneous leiomyomas across a large age range. We confirm that multiple cutaneous leiomyomas and papillary RCCs at a young age have a high positive predictive value for a molecular diagnosis of HLRCC, but that cutaneous leiomyomas are less prevalent in HLRCC than previously understood, and therefore the condition is likely to be under-ascertained. Our understanding of the phenotypic spectrum of HLRCC is still evolving.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:Publisher
[do] DOI:10.1007/s10689-018-0076-4

  10 / 1730 MEDLINE  
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[PMID]: 29410489
[Au] Autor:Muller M; Guillaud-Bataille M; Salleron J; Genestie C; Deveaux S; Slama A; de Paillerets BB; Richard S; Benusiglio PR; Ferlicot S
[Ad] Address:Réseau National pour Cancers Rares de l'Adulte PREDIR AP-HP labellisé par l'Institut National du Cancer (INCa), Hôpital de Bicêtre, 94275, Le Kremlin Bicêtre, France. mariemuller.onco@gmail.com.
[Ti] Title:Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration.
[So] Source:Mod Pathol;, 2018 Feb 06.
[Is] ISSN:1530-0285
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hereditary leiomyomatosis and renal cell carcinoma syndrome is characterized by an increased risk of agressive renal cell carcinoma, often of type 2 papillary histology, and is caused by FH germline mutations. A prominent eosinophilic macronucleolus with a perinucleolar clear halo is distinctive of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma according to the 2012 ISUP and 2016 WHO kidney tumor classification. From an immunohistochemistry perspective, tumors are often FH-negative and S-(2-succino)-cysteine (2SC) positive. We performed a pathology review of 24 renal tumors in 23 FH mutation carriers, and compared them to 12 type 2 papillary renal cell carcinomas from FH wild-type patients. Prominent eosinophilic nucleoli with perinucleolar halos were present in almost all FH-deficient renal cell carcinomas (23/24). Unexpectedly, they were also present in 58% of type 2 papillary renal cell carcinomas from wild-type patients. Renal cell carcinoma in mutation carriers displayed a complex architecture with multiple patterns, typically papillary, tubulopapillary, and tubulocystic, but also sarcomatoid and rhabdoid. Such pattern diversity was not seen in non-carriers. FH/2SC immunohistochemistry was informative as all hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas were either FH- or 2SC+. For FH and 2SC immunohistochemistries taken separately, sensitivity of negative anti-FH immunohistochemistry was 87.5% and specificity was 100%. For positive anti-2SC immunohistochemistry, sensitivity, and specificity were 91.7% and 91.7%, respectively. All FH wild-type renal cell carcinoma were FH-positive, and all but one were 2SC-negative. In conclusion, multiplicity of architectural patterns, rhabdoid/sarcomatoid components and combined FH/2SC staining, but not prominent eosinophilic nucleoli with perinucleolar halos, differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma from type 2 papillary renal cell carcinoma with efficient FH gene. Our findings are crucial in identifying who should be referred to Cancer Genetics clinics for genetic counseling and testing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:Publisher
[do] DOI:10.1038/s41379-018-0017-7


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