Akụkọ

Na mbipụta a nke Clinical Difficulties, Bendu Konneh, BS, na ndị ọrụ ibe na-egosi ikpe nke nwoke dị afọ 21 nwere akụkọ ihe mere eme nke ọnwa 4 nke na-aga n'ihu na edema testicular ziri ezi.
Otu nwoke dị afọ 21 mere mkpesa maka ọzịza na-aga n'ihu nke testicle ziri ezi ruo ọnwa anọ.Ultrasound kpughere oke siri ike dị iche iche na mpi mpi aka nri, ntule nke neoplasm dị njọ.Nnyocha ndị ọzọ gụnyere ihe nkiri kọmputa, nke kpughere 2 cm retroperitoneal lymph node, ọ dịghị ihe ịrịba ama nke metastases obi (Fig 1).Ihe nrịbama ọbara ọbara gosipụtara ntakịrị elu nke alfa-fetoprotein (AFP) na ọkwa nkịtị nke lactate dehydrogenase (LDH) na gonadotropin chorionic mmadụ (hCG).
Onye ọrịa ahụ nwetara orchiectomy radical inguinal n'akụkụ aka nri.Ntụle pathological gosipụtara 1% teratomas nwere nnukwu akụkụ somatic dị njọ nke nwa ebu n'afọ rhabdomyosarcoma na chondrosarcoma.Enweghị mbuso agha nke lymphovascular.Ihe nrịbama etuto ahụ ugboro ugboro gosiri ọkwa nkịtị nke AFP, LDH na hCG.Nyocha CT na-esochi n'oge dị mkpirikpi gosipụtara na ọnụ ọgụgụ lymph interluminal aortic aortic dị 2-cm kachasị na-enweghị ihe akaebe nke metastases dị anya.Onye ọrịa a nwetara lymphadenectomy retroperitoneal, nke dị mma na 1 nke 24 lymph nodes na extranodal ndọtị nke ọrịa somatic yiri nke gụnyere rhabdomyosarcoma, chondrosarcoma, na sarcoma spindle cell na-enweghị ọdịiche.Immunohistochemistry gosiri na mkpụrụ ndụ tumor dị mma maka myogenin na desmin na adịghị mma maka SALL4 (Nyocha 2).
Tur cell germ cell (TGCTs) na-ahụ maka ọnụ ọgụgụ kachasị elu nke ọrịa kansa testicular na ụmụ okorobịa toro eto.TGCT bụ akpụ siri ike nwere ọtụtụ subtypes histological nwere ike inye ozi maka nlekọta ụlọ ọgwụ.1 TGCT na-ekewa n'ime ụzọ abụọ: seminoma na ndị na-abụghị seminoma.Ihe na-adịghị ahụkebe gụnyere choriocarcinoma, carcinoma nwa ebu n'afọ, akpụ nkochi ime akwa, na teratoma.
A na-ekewa teratomas testicular n'ụdị postpubertal na prepubertal.Prepubertal teratomas bụ ihe na-adịghị ahụkebe n'ụzọ ndụ na ejikọtaghị ya na germ cell neoplasia in situ (GCNIS), mana postpubertal teratomas na-ejikọta ya na GCNIS ma dị njọ.2 Na mgbakwunye, postpubertal teratomas na-emekarị metastasize gaa na saịtị extragonadal dị ka ọnụọgụ lymph retroperitoneal.Ọ na-adịkarị obere, teratomas testicular postpubertal nwere ike ịmalite ịghọ ọrịa somatic ma na-ejikarị ịwa ahụ.
N'ime akụkọ a, anyị na-egosi njirimara molekụla nke ọrịa teratoma na-adịghị ahụkebe nke nwere akụkụ dị njọ nke somatic na testes na lymph nodes.N'akụkọ ihe mere eme, TGCT nwere ọrịa ọjọọ somatic azaghị nke ọma na radieshon na chemotherapy dabere na platinum, yabụ azịza A ezighi ezi.3,4 Mgbalị na chemotherapy ezubere iche gbanwere histology na metastatic teratomas enweela nsonaazụ agwakọtara, yana ụfọdụ ọmụmụ na-egosi nzaghachi dị mma na-adịgide adịgide na ndị ọzọ na-egosi enweghị nzaghachi.5-7 N'ime ndetu, Alessia C. Donadio, MD, na ndị ọrụ ibe gosipụtara nzaghachi na ndị ọrịa cancer na-enwe otu subtype histological, ebe anyị chọpụtara 3 subtypes: rhabdomyosarcoma, chondrosarcoma, na udifferentiated spindle cell sarcoma.A chọrọ ọmụmụ ihe ndị ọzọ iji nyochaa nzaghachi nke chemotherapy na-eduzi na TGCT na somatic malignant histology na nhazi nke metastasis, karịsịa na ndị ọrịa nwere ọtụtụ subtypes histological.Ya mere, azịza B ezighi ezi.
Iji nyochaa genomic na transcriptome odida obodo nke ọrịa kansa a wee chọpụta ebumnuche ọgwụgwọ nwere ike, anyị mere nyocha nke transcriptome tumor normal sequencing (NGS) na ụdịdị anakọtara n'aka ndị ọrịa nwere aortic lumenal lymph node metastases, yana nchikota na usoro RNA.Nyocha transcriptome site n'usoro RNA gosiri na ERBB3 bụ naanị mkpụrụ ndụ ihe nketa karịrị akarị.Mkpụrụ ndụ ERBB3, nke dị na chromosome 12, koodu maka HER3, ihe nnabata tyrosine kinase na-egosipụtakarị na akpụkpọ ahụ nke sel epithelial.Mmụba somatic na ERBB3 ka akọpụtala na ụfọdụ carcinomas eriri afọ na urothelial.asatọ
Nchọpụta dabere na NGS nwere akụkụ ebumnuche (xT panel 648) nke mkpụrụ ndụ ihe nketa 648 jikọtara ya na ọrịa kansa siri ike na ọbara.Panel xT 648 ekpughere ụdị germline pathogenic.Agbanyeghị, KRAS missense variant (p.G12C) na exon 2 ka amatara dị ka naanị mutation somatic nwere oke variant allele nke 59.7%.Mkpụrụ ndụ KRAS bụ otu n'ime mmadụ atọ nke ezinụlọ RAS oncogene na-ahụ maka ịgbazite ọtụtụ usoro cellular metụtara uto na ọdịiche site na akara GTPase.9
Ọ bụ ezie na mmụgharị KRAS G12C na-adịkarị na ọrịa cancer akpa ume na-abụghị obere cell (NSCLC) na ọrịa cancer colorectal, mmụgharị KRAS ka akọpụtakwala na TGCT nke codons dị iche iche.10,11 Eziokwu ahụ bụ na KRAS G12C bụ naanị ngbanwe a na-ahụ n'ime otu a na-egosi na ngbanwe a nwere ike ịbụ ihe na-akpata usoro mgbanwe ọjọọ.Na mgbakwunye, nkọwa a na-enye ụzọ ga-ekwe omume maka ọgwụgwọ nke TGCT na-eguzogide platinum dị ka teratomas.N'oge na-adịbeghị anya, sotorasib (Lumacras) ghọrọ KRAS G12C inhibitor nke mbụ gbadoro ụkwụ na etuto mutant KRAS G12C.Na 2021, FDA kwadoro sotorasib maka ọgwụgwọ nke ọrịa cancer akpa ume na-abụghị obere cell.Enweghị ihe akaebe na-akwado iji ọgwụgwọ ezubere iche maka ntụgharị asụsụ adjuvant maka TGCT nwere akụkụ ọjọọ somatic.Ọmụmụ ihe ọzọ dị mkpa iji nyochaa nzaghachi nke akụkọ ihe mere eme ntụgharị na ọgwụgwọ ezubere iche.Ya mere, azịza C adịghị mma.Otú ọ dị, ọ bụrụ na ndị ọrịa na-enwetaghachi ihe ndị yiri ya nke akụkụ ahụ, a pụrụ inye ọgwụgwọ salvage na sotorasib nwere ike nyocha.
N'ihe banyere ihe nrịbama immunotherapy, ụbụrụ microsatellite kwụsiri ike (MSS) gosipụtara ibu mmụgharị (TMB) nke 3.7 m/MB (pasent 50th).Nyere na TGCT enweghị TMB dị elu, ọ bụghị ihe mgbagwoju anya na ikpe a dị na pasent 50 ma e jiri ya tụnyere ụbụrụ ndị ọzọ.12 N'inye obere TMB na ọnọdụ MSS nke etuto ahụ, ohere nke ịkpalite nzaghachi mgbochi na-ebelata;etuto ahụ nwere ike ọ gaghị anabata ọgwụgwọ mgbochi mgbochi mgbochi.13,14 Ya mere, azịza E ezighi ezi.
Ihe nrịbama tumor serum (STMs) dị oke mkpa maka nyocha nke TGCT;ha na-enye ozi maka staging na ihe ize ndụ stratification.STM ndị a na-ejikarị eme ihe ugbu a maka nyocha ụlọ ọgwụ gụnyere AFP, hCG, na LDH.N'ụzọ dị mwute, ịdị irè nke nrịbama atọ a nwere oke na ụfọdụ ụdị TGCT, gụnyere teratoma na seminoma.15 N'oge na-adịbeghị anya, ezisara ọtụtụ microRNA (miRNA) dị ka ndị nwere ike ime biomarkers maka ụfọdụ subụdị TGCT.E gosiputara MiR-371a-3p ka ọ nwere ikike iji chọpụta ọtụtụ isoforms TGCT nwere uche na ụkpụrụ akọwapụtara sitere na 80% ruo 90% n'akwụkwọ ụfọdụ.16 Ọ bụ ezie na nsonaazụ ndị a na-ekwe nkwa, miR-371a-3p anaghị ebulikarị elu n'ụdị teratoma.Nnyocha nke multicenter nke Klaus-Peter Dieckmann, MD, na ndị ọrụ ibe ya gosiri na n'ime ìgwè mmadụ 258, okwu miP-371a-3p dị ala na ndị ọrịa nwere teratoma dị ọcha.17 Ọ bụ ezie na miR-371a-3p adịghị arụ ọrụ nke ọma na teratomas dị ọcha, ihe ngbanwe dị njọ n'okpuru ọnọdụ ndị a na-egosi na nyocha ga-ekwe omume.A na-eme nyocha MiRNA na serum nke a na-enweta n'aka ndị ọrịa tupu na mgbe lymphadenectomy gasịrị.Ebumnuche miR-371a-3p yana mkpụrụ ndụ nrụtụ aka miR-30b-5p gụnyere na nyocha.Agụpụtara okwu MiP-371a-3p site na ntụgharị ntụgharị ntụgharị polymerase chain.Nsonaazụ gosiri na ahụrụ miP-371a-3p n'obere ego na nlele ọbara tupu ịwa ahụ yana mgbe emechara ya, na-egosi na ejighị ya dị ka akara akpụ na onye ọrịa a.Ọnụ ọgụgụ okirikiri nke ihe nlele mbụ bụ 36.56, na achọpụtaghị miP-371a-3p n'omume emechara.
Onye ọrịa ahụ enwetaghị ọgwụgwọ adjuvant.Ndị ọrịa họọrọ onyunyo na-arụsi ọrụ ike na onyonyo nke obi, afọ, na pelvis dị ka akwadoro yana STM.Ya mere, azịza ziri ezi bụ D. Otu afọ mgbe e wepụsịrị ọnụ ọgụgụ lymph retroperitoneal, ọ dịghị ihe ịrịba ama nke nlọghachi nke ọrịa ahụ.
Nkpughe: Onye ode akwụkwọ enweghị mmasị gbasara ego ma ọ bụ mmekọrịta ndị ọzọ na ndị nrụpụta ngwaahịa ọ bụla a kpọtụrụ aha n'isiokwu a ma ọ bụ ndị na-eweta ọrụ ọ bụla.
Corresponding author: Aditya Bagrodia, Associate Professor, MDA, Department of Urology UC San Diego Suite 1-200, 9400 Campus Point DriveLa Jolla, CA 92037Bagrodia@health.ucsd.edu
Ben DuConnell, BS1.2, Austin J. Leonard, BA3, John T. Ruffin, PhD1, Jia Liwei, MD, PhD4, na Aditya Bagrodia, MD1.31 Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX