替朋友問，這種腎癌預後如何， 說是rare subtype, 文獻很少， 中文網站幾乎沒有，請看病理報告和基因檢測：

1970年生， 男。 2021年12月手術， 隨訪已做兩次（最近2023年1月）： 腎功能， 胸部X光， 腎B超， 腹部B超，腹部MRI， 正常。 術前無症狀。 因為左腎結石疼痛， 急診CT發現右腎腫瘤， 靠近腎門。 術前外科醫生說因為靠近腎門， 有可能越過二期， 直奔三期。術後定為1a期。 術後沒有做進一步治療。四個月前右下背有點疼，持續3個月， 最近變好。 飲食起居工作（腦力勞動）運動照舊，精神樂觀。

當地小城市的醫生要直接切除整個腎，說切除了， 就100%治愈了。 嚇得跑到紐約MSKCC，右腎保留了85%。幸哉！所以有病了， 要多問幾個醫生。 

基因檢測看不懂。 有兩個基因突變， 但為啥還說： You have a NEGATIVE result, which means that no mutation has been identified in the gene(s) analyzed.

 

Surgical Pathology

12/2021 by MSKCC

Clinical Diagnosis & History:

Renal mass.

Procedure: Right partial nephrectomy.

Specimens Submitted:

1: Right kidney perihilar tumor (fs)

2: Deep surgical margin, right kidney

DIAGNOSIS:

1. Right kidney perihilar tumor (fs):

Procedure:

Partial nephrectomy

Tumor Type:

Renal cell carcinoma with fibromyomatous stroma, see note

Specimen Laterality:

Right

Tumor Size:

Greatest dimension: 3.8 cm

Additional dimension: 3.5 x 3.1 cm

Tumor Focality:

Unifocal

Histologic Grade [WHO / ISUP Grade]:

Not applicable

Sarcomatoid Features:

Not identified

Rhabdoid Features:

Not identified

Tumor Necrosis:

Not identified

Local Invasion:

Tumor limited to kidney

Vascular Invasion:

Not identified

Surgical Margins:

Uninvolved by tumor

Pathologic Findings in Non-Neoplastic Kidney:

Compression-related changes

Moderate arteriosclerosis (PAS stain reviewed)

Adrenal Gland:

Not identified

Regional Lymph Nodes:

Not identified

Pathologic Stage Classification (AJCC 8th Edition):

Primary Tumor (pT): pT1a: Tumor 4 cm or less in greatest dimension, limited to the kidney

Regional Lymph Nodes (pN):

pNX: Regional lymph node cannot be assessed --------------------------------------------------------

Note: Immunohistochemical stains reveal that the tumor cells are positive for CA-IX (box-like pattern), CK7, and CD10 (focal, luminal). Immunostain for 34bE12 shows only rare tumor cell positivity.

The morphologic and immunohistochemical features raise multiple differential diagnostic possibilities, including TCEB1/ELOC[1]mutated renal cell carcinoma (RCC), somatic TSC1/2 or MTOR mutated RCC, and in rare cases of MiTF-family translocation RCC and 3p loss true clear cell RCC. Molecular testing may be helpful in this distinction, if clinically indicated.

2. Deep surgical margin, right kidney:

- Benign renal parenchyma This case was also reviewed at the intradepartmental GU consensus conference.

 

Visit Summary – Clinical Genetics

Sep 2023, by MSKCC

 

Genetic Evaluation Summary

You underwent genetic evaluation given your personal history of kidney cancer.

You recently had the following genetic testing performed:

Renal Cancer panel (BAP1,MITF,SDHA,SDHB,VHL,FH,FLCN,MET,TSC1,TSC2) with MSK-IMPACT Secondary Germline analysis of 90 genes. .

Test Result Summary (A copy of the test results was provided.)

Your genetic test results were negative (normal):

You have a NEGATIVE result, which means that no mutation has been identified in the gene(s) analyzed. There are several possible explanations:

1. The cancer in you/your family is sporadic (by chance) or due to other risk factors.
2. Family members have a gene mutation that you did not inherit. For this reason, individualized genetic counseling may be recommended for certainfamily members.
3. You may have a mutation that is not detectable with current technology.
4. You may have inherited a mutation in a different cancer predisposition gene, either known or unknown.

While the likelihood is extremely small, there is always the possibility of human or laboratory error when performing a genetic test. Primary Germline MSK-IMPACT testing is a CLIA-compliant and New York State-approved test. This cancer-specific panel is a commercial-grade test targeting a subset of genes associated with a specific hereditary cancer where pathogenic and likely pathogenic variants, as well as variants of uncertain significance, are reported. The Secondary Germline MSK-IMPACT test is conducted as part of a research study using methodology and reporting that is slightly different from clinical testing employed by commercial diagnostic laboratories for Primary Germline testing. Of note, Secondary Germline MSK-IMPACT does not report any variants of uncertain significance in any of the genes on the research panel. You/your designated family member will be informed of any clinically significant amendments by the ordering physician.

 

Molecular Pathology MSK-IMPACT^TM Solid Report

Summary	2 mutations, no copy number alterations, no structural variants detected
MSI Status	β MICROSATELLITE STABLE (MSS). See MSI note below.
Tumor Mutation Burden	The estimated tumor mutation burden (TMB) for this sample is 1.6 mutations per megabase (mt/Mb). The median TMB assessed by MSK-IMPACT for all patients is 3.9 mt/Mb and for patients with Renal Cell Carcinoma is 3.0 γ mt/Mb as of the date this report was issued.
Comments	Copy number profile is suggestive of broad copy number loss on chromosome 8.
Somatic alterations detected in this sample:

Gene                      Type                          Alteration                                Location       Additional Information

MutatMutations
CRLF2	Frameshift Deletion	R3Lfs*30 (c.8_29del)	exon 1	MAF: 11.5%
ELOC	Missense Mutation	D25V (c.74A>T)	exon 3	MAF: 31.1%

+: A glossary of terms and icons used in this report can be found after the "Test and Methodology" section . β

: MSI Note: The MSIsensor score is 0.0.

RefSeq IDs for the genes with reported variants along with a list of all 505 genes can be found on the last page

所有跟帖： 

• 分期1a期比交好，應該是沒查到與腎癌有關的基因突變，總的來說樂觀 -5678910- ♂ (4146 bytes) () 02/01/2023 postreply 04:58:16

• 不是papillary renal cell carcinoma(PRCC)，不是ccRCC。 是 -cowboy2018- ♂ (332 bytes) () 02/01/2023 postreply 07:12:23

• 最後報告有ELOC突變，可能總結裏搞錯了。但分期更重要，目測完全切除了，5年還是～90% -5678910- ♂ (0 bytes) () 02/01/2023 postreply 12:11:00

• 看看T細胞免疫治療是否適用 -tryyyyyy- ♂ (118 bytes) () 02/01/2023 postreply 06:37:18

• 謝謝。目前MSKCC醫院未推薦任何治療， 隻是每隔半年做複查。手術前， 說如果是三期， 則用他們自己研發的尚處於臨床 -cowboy2018- ♂ (39 bytes) () 02/01/2023 postreply 07:14:51