PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female

Ramkumar, Rathika; Murthy, P. Balakrishna; Nguyen, Jane; McKenney, Jesse K.; Eng, Charis; Campbell, Steven C.

doi:10.1016/j.urology.2020.11.024

Cited by 4 publications

(7 citation statements)

References 10 publications

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“…The final cohort was comprised of 12 renal epithelial tumors from 9 patients (Table 1), identified over an 18-year time frame at 4 institutions (2004-2022). One of the patients (patient #2) was previously reported by our group 9 . There were 4 males and 5 females, with a mean age of 41.8 years old (range: 7 to 64 y old).…”

Section: Resultsmentioning

confidence: 98%

“…One of the patients (patient #2) was previously reported by our group. 9 There were 4 males and 5 females, with a mean age of 41.8 years old (range: 7 to 64 y old). Six patients had a confirmed germline PTEN mutation, 1 had a heterozygous partial deletion of the promoter and exon 1 of PTEN (including KLLN), and 2 were diagnosed as Cowden syndrome based on clinical criteria.…”

Section: Resultsmentioning

confidence: 99%

“…RCC became recognized as part of the neoplastic spectrum of PHTS in 2000, relatively later than other known component malignancies such as breast, nonmedullary thyroid, and endometrial cancers 14 . Since 2012, several case reports and few case series have described PHTS-associated renal neoplasia 5–7,9,15–18 . Compared with the general population, RCC is 20- to 30-fold more common in PHTS, with a lifetime penetrance of ∼15% to 35% 5,19 Table 3.…”

Section: Discussionmentioning

confidence: 99%

“…14 Since 2012, several case reports and few case series have described PHTS-associated renal neoplasia. [5][6][7]9,[15][16][17][18] Compared with the general population, RCC is 20-to 30-fold more common in PHTS, with a lifetime penetrance of ∼15% to 35%. 5,19 Demographic information, including age (mean of 41.8 y) and sex distribution (male/female ratio 0.8), from our cohort, was similar to that in the literature (49.3 y, male/female ratio 1.1).…”

Section: Discussionmentioning

confidence: 99%

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Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

Kozman¹,

Kao

Nguyen³

et al. 2023

American Journal of Surgical Pathology

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The aim of this study was to assess the histopathologic spectrum of renal tumors in patients with PTEN hamartoma tumor syndrome (PHTS), with a specific focus on potential features predictive of the underlying syndrome. A multi-institutional study was conducted to obtain clinical and pathologic data on renal tumors arising in patients with PHTS, either diagnosed by germline mutational analysis or clinical criteria for Cowden syndrome. Histologic sections of the renal tumors were re-reviewed for classification. Twelve renal epithelial tumors from 9 patients were identified (4 males and 5 females, with a mean age of 41.8 y), 7 of whom carried germline PTEN mutations. All 12 renal epithelial tumors were renal cell carcinomas (RCCs): 5 were chromophobe RCCs, 4 papillary RCCs, and 3 RCC not otherwise specified. Pathologic stage distribution was: 7 (59%) pT1a, 2 (17%) pT1b, 1 (8%) pT2a, 1 (8%) pT2b, and 1 (8%) pT3a. World Health Organization/International Society of Urological Pathology (WHO/ISUP) histologic grade was applicable in 7 (54%) nonchromophobe tumors: 4 (57%) G2, 2 (29%) G3, and 1 (14%) G4. An unexpected histologic finding was the presence of 2 patients with incidental microscopic collections of intrarenal adipocytes that had no features of angiomyolipoma (and were negative with 2 sensitive PEComa markers: cathepsin-K and GPNMB); both were classified as lipoma/“lipomatous hamartomas.” The average follow-up interval was 67.8 months (13 to 172 mo): 5 patients had no evidence of disease, 2 were lost to follow-up, 1 died of other (non-PHTS) causes (ie, prostate cancer), and 1 was alive with metastatic RCC to the lung (RCC not otherwise specified with rhabdoid differentiation). All tumors showed loss of nuclear PTEN staining by immunohistochemistry. Fumarate hydratase was retained and 2SC was negative in all papillary RCCs. CK7 was moderate-strong/diffuse positive in 4 of 5 chromophobe RCCs and in 3 of 4 papillary RCCs. Renal epithelial tumors associated with PHTS represent a heterogeneous group of RCCs, but classic chromophobe and papillary RCC are most common. The majority have a favorable clinical behavior as would be predicted by subtype. In contrast to other hereditary renal neoplasia syndromes, morphologic features of the RCCs do not allow identification of PHTS-associated neoplasia with any degree of specificity in the absence of clinical setting and/or prior history, but the presence of microscopic “lipomas” within the kidney may provide a clue in rare cases. Therefore, clinical suspicion and genetic counseling with germline testing remain necessary for identifying PHTS-associated RCC.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

Kozman¹,

Kao

Nguyen³

et al. 2023

American Journal of Surgical Pathology

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“…In Cowden disease, a hereditary autosomal dominant syndrome associated with germline mutation of PTEN, which is an onco-suppressor gene that inhibits the PI3K/Akt/ mTOR pathway, making it possible to develop clear cell, papillary, and chromophobe RCC [73]. Therefore, in this context, targeting mTOR represents an effective strategy and the same benefit could be achieved even in other genetic syndromes.…”

Section: Mtor Pathwaymentioning

confidence: 99%

The Molecular Characteristics of Non-Clear Cell Renal Cell Carcinoma: What’s the Story Morning Glory?

Marchetti

Rosellini

Mollica

et al. 2021

IJMS

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Non-clear cell renal cell carcinomas are a miscellaneous group of tumors that include different histological subtypes, each one characterized by peculiarity in terms of genetic alteration, clinical behavior, prognosis, and treatment response. Because of their low incidence and poor enrollment in clinical trials, alongside their heterogeneity, additional efforts are required to better unveil the pathogenetic mechanisms and, consequently, to improve the treatment algorithm. Nowadays, tyrosine kinase inhibitors, mTOR and MET inhibitors, and even cisplatin-based chemotherapy and immunotherapy are potential weapons that are still under evaluation in this setting. Various biomarkers have been evaluated for detecting progression and monitoring renal cell carcinoma, but more studies are necessary to improve this field. In this review, we provide an overview on the molecular characteristics of this group of tumors and the recently published trials, giving an insight into what might become the future therapeutic standard in this complex world of non-clear cell kidney cancers.

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Hereditary Renal Cell Carcinoma Syndromes

Carlo

2023

Hematology/Oncology Clinics of North America

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PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female

Cited by 4 publications

References 10 publications

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome

The Molecular Characteristics of Non-Clear Cell Renal Cell Carcinoma: What’s the Story Morning Glory?

Hereditary Renal Cell Carcinoma Syndromes

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