ISSN 1004-4140
CN 11-3017/P
| Citation: |
LIU H S, CHEN Y, WANG X R, et al. Diagnosis of Lynch Syndrome-associated Prostatic Small Cell Neuroendocrine Carcinoma: A Clinical Case Analysis[J]. CT Theory and Applications, 2025, 34(2): 319-326. DOI: 10.15953/j.ctta.2024.200. (in Chinese).
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Lynch syndrome is an autosomal dominant hereditary cancer syndrome characterized by germline mutations in DNA mismatch repair genes. Lynch syndrome-associated small cell neuroendocrine carcinoma of the prostate is an extremely rare extracolonic tumor associated with Lynch syndrome. This article reports the case of a 54-year-old male with Lynch syndrome who developed a prostate tumor pathologically confirmed as small cell neuroendocrine carcinoma of the prostate, accompanied by a loss of MSH2 and PMS2 protein expression. This article reviews the clinical features and imaging findings of this disease to enhance clinical awareness and provide insights for early diagnosis of this condition.
| [1] |
TURKBEY B, ROSENKRANTZ A B, HAIDER M A, et al. Prostate imaging reporting and data system version 2.1: 2019 update of prostate imaging reporting and data system version 2[J]. European Urology, 2019, 76(3): 340-351. DOI: 10.1016/j.eururo.2019.02.033.
|
| [2] |
WARD R L, HICKS S, HAWKINS N J. Population-based molecular screening for Lynch syndrome: Implications for personalized medicine[J]. Journal of Clinical Oncology, 2013, 31(20): 2554-2562. DOI: 10.1200/JCO.2012.46.8454.
|
| [3] |
YU J, DING P R, JIANG W. Screening and management of Lynch syndrome: The Chinese experience[J]. Clinics in Colon and Rectal Surgery, 2023, 36(6): 369-377. DOI: 10.1055/s-0043-1767706.
|
| [4] |
WIN A K, YOUNG J P, LINDOR N M, et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: A prospective cohort study[J]. Journal of Clinical Oncology, 2012, 30(9): 958-964. DOI: 10.1200/JCO.2011.39.5590.
|
| [5] |
VASEN H, WATSON P, MECKLIN J, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC[J]. Gastroenterology, 1999, 116(6): 1453-1456. DOI: 10.1016/S0016-5085(99)70510-X.
|
| [6] |
UMAR A, BOLAND C R, TERDIMAN J P, et al. Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability[J]. Journal of the National Cancer Institute, 2004, 96(4): 261-268.
UMAR A, BOLAND C R, TERDIMAN J P, et al. Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability[J]. Journal of the National Cancer Institute, 2004, 96(4): 261-268.
|
| [7] |
BARNETSON R A, TENESA A, FARRINGTON S M, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer[J]. New England Journal of Medicine, 2006, 354(26): 2751-2763. DOI: 10.1056/NEJMoa053493.
|
| [8] |
JIANG W, CAI M, LI S, et al. Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features[J]. International Journal of Cancer, 2019, 144(9): 2161-2168. DOI: 10.1002/ijc.32044.
|
| [9] |
WAGNER D G, GATALICA Z, LYNCH H T, et al. Neuroendocrine-type prostatic adenocarcinoma with microsatellite instability in a patient with Lynch syndrome[J]. International Journal of Surgical Pathology, 2010, 18(6): 550-553. DOI: 10.1177/1066896910379406.
|
| [10] |
RAYMOND V M, MUKHERJEE B, WANG F, et al. Elevated risk of prostate cancer among men with Lynch syndrome[J]. Journal of Clinical Oncology, 2013, 31(14): 1713-1718. DOI: 10.1200/JCO.2012.44.1238.
|
| [11] |
BANCROFT E K, PAGE E C, BROOK M N, et al. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): Initial results from an international prospective study[J]. Lancet Oncology, 2021, 22(11): 1618-1631. DOI: 10.1016/S1470-2045(21)00522-2.
|
| [12] |
NADAL R, SCHWEIZER M, KRYVENKO O N, et al. Small cell carcinoma of the prostate[J]. Nature Reviews Urology, 2014, 11(4): 213-219. DOI: 10.1038/nrurol.2014.21.
|
| [13] |
ZAFFUTO E, POMPE R, ZANATY M, et al. Contemporary incidence and cancer control outcomes of primary neuroendocrine prostate cancer: A SEER database analysis[J]. Clinical Genitourinary Cancer, 2017, 15(5): e793-e800. DOI: 10.1016/j.clgc.2017.04.006.
|
| [14] |
HU J, HAN B, HUANG J. Morphologic spectrum of neuroendocrine tumors of the prostate: An updated review[J]. Archives of Pathology & Laboratory Medicine, 2020, 144(3): 320-325.
|
| [15] |
SHAH R B, MEHRA R, CHINNAIYAN A M, et al. Androgen-independent prostate cancer is a heterogeneous group of diseases[J]. Cancer Research, 2004, 64(24): 9209-9216. DOI: 10.1158/0008-5472.CAN-04-2442.
|
| [16] |
PALMGREN J S, KARAVADIA S S, WAKEFIELD M R. Unusual and underappreciated: Small cell carcinoma of the prostate[J]. Seminars in Oncology, 2007, 34(1): 22-29. DOI: 10.1053/j.seminoncol.2006.10.026.
|
| [17] |
蔡建良, 李宁忱, 那彦群. 前列腺小细胞神经内分泌癌诊治特点分析[J]. 中华泌尿外科杂志, 2010, 31(6): 391-394. DOI: 10.3760/cma.j.issn.1000-6702.2010.06.011.
CAI J L, LI N C, NA Y Q. Small cell neuroendocrine carcinoma of the prostate[J]. Chinese Journal of Urology, 2010, 31(6): 391-394. DOI: 10.3760/cma.j.issn.1000-6702.2010.06.011. (in Chinese).
|
| [18] |
APARICIO A M, HARZSTARK A L, CORN P G, et al. Platinum-based chemotherapy for variant castrate-resistant prostate cancer[J]. Clinical Cancer Research, 2013, 19(13): 3621-3630. DOI: 10.1158/1078-0432.CCR-12-3791.
|
| [19] |
BERNIKER A V, ABDULRAHMAN A A, TEYTELBOYM O M, et al. Extrapulmonary small cell carcinoma: Imaging features with radiologic-pathologic correlation[J]. Radiographics, 2015, 35(1): 152-163. DOI: 10.1148/rg.351140050.
|
| [20] |
CHANG J M, LEE H J, LEE S E, et al. Pictorial review: Unusual tumours involving the prostate: Radiological-pathological findings[J]. The British Journal of Radiology, 2008, 81(971): 907-915. DOI: 10.1259/bjr/68294775.
|
| [21] |
SHARMA P, AJJIKUTTIRA A A, MCLEAN K, et al. Small cell carcinoma of the prostate: Pathological and magnetic resonance imaging findings[J]. Journal of Clinical Urology, 2024, 17(1): 22-25. DOI: 10.1177/20514158221081415.
|
| [22] |
APARICIO A, TZELEPI V. Neuroendocrine (small-cell) carcinomas: Why they teach us essential lessons about prostate cancer[J]. Oncology, 2014, 28(10): 831-838.
|
| [23] |
李宜泽, 陈子琦, 张璐瑶, 等. 双能CT在前列腺病变中的研究和应用进展[J]. CT理论与应用研究(中英文), 2025, 34(1): 65-72. DOI: 10.15953/j.ctta.2024.114.
LI Y Z, CHEN Z Q, ZHANG L Y, et al. Research and application progress of dual-energy CT in prostate lesions[J]. CT Theory and Applications, 2025, 34(1): 65-72. DOI: 10.15953/j.ctta.2024.114. (in Chinese).
|
| [24] |
MENA E, LINDENBERG L M, CHOYKE P L. New targets for PET molecular imaging of prostate cancer[J]. Seminars in Nuclear Medicine, 2019, 49(4): 326-336. DOI: 10.1053/j.semnuclmed.2019.02.001.
|
| [25] |
TAHER A, JENSEN C T, YEDURURI S, et al. Imaging of neuroendocrine prostatic carcinoma[J]. Cancers, 2021, 13(22): 5765. DOI: 10.3390/cancers13225765.
|
| [26] |
李卓琳, 毕国力, 包颜明, 等. 前列腺小细胞神经内分泌癌1例[J]. 实用放射学杂志, 2008, 24(2): 220, 260.
|
| [27] |
蔡国烽, 邓君鹏, 李权, 等. 前列腺小细胞神经内分泌癌1例并文献复习[J]. 国际泌尿系统杂志, 2020, 40(2): 319-320. DOI: 10.3760/cma.j.issn.1673-4416.2020.02.034.
|
| [28] |
KIM K H, KIM Y B, LEE J K, et al. Pathologic results of radical prostatectomies in patients with simultaneous atypical small acinar proliferation and prostate cancer[J]. Korean Journal of Urology, 2010, 51(6): 398. DOI: 10.4111/kju.2010.51.6.398.
|
| [29] |
SPETSIERIS N, BOUKOVALA M, PATSAKIS G, et al. Neuroendocrine and aggressive-variant prostate cancer[J]. Cancers, 2020, 12(12): 3792. DOI: 10.3390/cancers12123792.
|
| [30] |
ABIDA W, CHENG M L, ARMENIA J, et al. Analysis of the prevalence of microsatellite instability in prostate cancer and response to immune checkpoint blockade[J]. JAMA Oncology, 2019, 5(4): 471. DOI: 10.1001/jamaoncol.2018.5801.
|
| [31] |
YOSHIDA T, YAEGASHI H, TORIUMI R, et al. Long response duration to pembrolizumab in metastatic, castration-resistant prostate cancer with microsatellite instability-high and neuroendocrine differentiation: A case report[J]. Frontiers in Oncology, 2022, 12: 912490. DOI: 10.3389/fonc.2022.912490.
|
| [32] |
ANTONARAKIS E S, PIULATS J M, GROSS-GOUPIL M, et al. Pembrolizumab for treatment-refractory metastatic castration-resistant prostate cancer: Multicohort, open-label phase Ⅱ KEYNOTE-199 study[J]. Journal of Clinical Oncology, 2020, 38(5): 395-405. DOI: 10.1200/JCO.19.01638.
|
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