1970年生， 男。 2021年12月手术， 随访已做两次（最近2023年1月）： 肾功能， 胸部X光， 肾B超， 腹部B超，腹部MRI， 正常。 术前无症状。 因为左肾结石疼痛， 急诊CT发现右肾肿瘤， 靠近肾门。 术前外科医生说因为靠近肾门， 有可能越过二期， 直奔三期。术后定为1a期。 术后没有做进一步治疗。四个月前右下背有点疼，持续3个月， 最近变好。 饮食起居工作（脑力劳动）运动照旧，精神乐观。
当地小城市的医生要直接切除整个肾，说切除了， 就100%治愈了。 吓得跑到纽约MSKCC，右肾保留了85%。幸哉！所以有病了， 要多问几个医生。
基因检测看不懂。 有两个基因突变， 但为啥还说： 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:
- The cancer in you/your family is sporadic (by chance) or due to other risk factors.
- Family members have a gene mutation that you did not inherit. For this reason, individualized genetic counseling may be recommended for certainfamily members.
- You may have a mutation that is not detectable with current technology.
- 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-IMPACTTM 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. |
|
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|
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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
