Patient Details
Name
:
RAMA SUBBAMMA C
Sex / Age
Ref By
:
Dr. A.V.S. SURESH
:
Female / 53 Years
Case ID
:
31206300275
Test Name :
Oncocept-Solid
Bill. Loc.
:
Molecular Oncology TS
Sample Type
:
Sample Details
Registration Date &
Time
:
2023-12-11
07:26:32 PM
FFPE Block ID- HP3896/23
Report Date & Time
:
2023-12-22
06:50:15 PM
Clinical History
Provided Diagnosis: Metastatic adenocarcinoma of lung
Tumor percentage: 65%
31206300275-Mrs. RAMA SUBBAMMA C-53 Years-Female
Test Results and Interpretation
Positive for ALK gene rearrangement.
DNA: No pathogenic variant identified in EGFR, ERBB2, KRAS and BRAF genes.
RNA: No fusion identified in ROS1, RET, MET and NTRK genes.
Variant Details
Fusion
Gene
Tier
EML4::ALK
Sensitivity
1A
Supporting Reads: 232
In Disease of Interest
In Other Diseases
In Disease of Interest and Other Diseases UF Unfavorable F Favorable NA Not Available
Description
ALK, a receptor tyrosine kinase, is recurrently altered by chromosomal rearrangements in various cancer types including
anaplastic large cell lymphoma, non-small cell lung cancer and inflammatory myofibroblastic tumors. The EML4-ALK fusion is
known to be oncogenic. Crizotinib, ceritinib, alectinib, brigatinib and lorlatinib are FDA-approved for the treatment of
patients with ALK-positive lung cancer.
In this patient, EML4-ALK fusion variant V1 was noted
Eight EML4-ALK variants are generally recognized with a number (1, 2, 3a/b, 4′, 5a/b, 5′, 7, 8) with EML4-ALK variants 1
and 3 being the two most common variants accounting for 75–80 % of the total EML4-ALK variants. Clinical Drug
efficacy is considered according to the underlying EML4-ALK variants (v1 -v8) or “short” (v3 and v5) and “long” (v1, v2,
v5′, v7, and v8) EML4-ALK variants.
Page 1 of 4
Case ID : - 31206300275
Patient Name : RAMA
Approved by Dr. Kunjal Patel
Page Number : 1 out of 4
Neuberg Center for Genomic Medicine (A Unit Of NSRL)
GTPL House Lane, Near East Ebony, Sindhu Bhavan Road, Bodakdev, Ahmedabad | Email: contact@ncgmglobal.com | www.ncgmglobal.com | Phone: 07961618111 / 6357244307
31206300275-Mrs. RAMA SUBBAMMA C-53 Years-Female
Variant Details
2-year PFSR was 69.0% (95% CI 49.9–95.4) in group variants 1/2/others versus 32.7% (95% CI 15.6–68.4) in group
variants 3a/b for all ALK inhibitors: crizotinib, alectinib, and ceritinib. (Woo CG et al. 2017)
References:
1. Zhang SS et al. Lung Cancer. 2021.
2. Lei YY et al. Lung Cancer 2016
3. Christopoulos P et al. International Journal of Cancer. 2018
4. Woo CG et al. Annals of oncology. 2017
Technical Notes
AMP/ASCO/CAP Classification
Biomarkers that predict response or resistance to US FDA-approved therapies for a specific
1A
type of tumor or have been included in professional guidelines as therapeutic,
diagnostic, and/or prognostic biomarkers for specific types of tumors.
Tier I: Variants of Strong Clinical
Significance
Biomarkers that predict response or resistance to a therapy based on well-powered
1B
studies with consensus from experts in the field, or have diagnostic and/or prognostic
significance of certain diseases based on well- powered studies with expert consensus.
Biomarkers that predict response or resistance to therapies approved by FDA or
2C
Tier II: Variants of Potential
Clinical Significance
professional societies for a different tumor type (ie, off-label use of a drug), serve as
inclusion criteria for clinical trials, or have diagnostic and/or prognostic significance based
on the results of multiple small studies;
Biomarkers that show plausible therapeutic significance based on preclinical studies, or
2D
may assist disease diagnosis and/or prognosis themselves or along with other biomarkers
based on small studies or multiple case reports with no consensus
Page 2 of 4
Case ID : - 31206300275
Patient Name : RAMA
Approved by Dr. Kunjal Patel
Page Number : 2 out of 4
Neuberg Center for Genomic Medicine (A Unit Of NSRL)
GTPL House Lane, Near East Ebony, Sindhu Bhavan Road, Bodakdev, Ahmedabad | Email: contact@ncgmglobal.com | www.ncgmglobal.com | Phone: 07961618111 / 6357244307
31206300275-Mrs. RAMA SUBBAMMA C-53 Years-Female
Technical Notes
Not observed at a significant allele frequency in the general or specific subpopulation
Tier III: Variants of Unknown
Clinical Significance
databases, or pan-cancer or tumor-specific variant databases. No convincing published
evidence of cancer association
Tier IV: Benign or Likely Benign
Variants
Observed at significant allele frequency in the general or specific subpopulation
databases
Methodology :
Massively Parallel Sequencing (Next Generation Sequencing). Tumor Nucleic acid from the submitted specimen was enriched for the
coding regions of genes in the panel and splice site junctions of genes. Paired End Sequencing was performed on Illumina platform
(NovaSeq 6000/NextSeq2000). Oncocept solid Panel enables the detection of variants in 52 key solid tumor genes. These genes are
well characterized in the published literature and associated with oncology drugs that are FDA approved, part of National
Comprehensive Cancer Network (NCCN) guidelines, or in clinical trials. The assay allows concurrent analysis of DNA and RNA. Assay
detect multiple types of variants, including hotspots, single nucleotide variants (SNVs), indels, CNVs, and gene fusions, in a single
workflow.
Genes and Fusion drivers covered in the Panel
Oncocept Solid - 52 gene panel
AKT1
FGFR3
MET
MYC
ALK
GNA11
MTOR
MYCN
AR
GNAQ
NRAS
ABL1
BRAF
HRAS
PDGFRA
AKT3
CDK4
IDH1
PIK3CA
AXL
CTNNB1
IDH2
RAF1
ERG
DDR2
JAK1
RET
ETV1
EGFR
JAK2
ROS1
ETV4
ERBB2
JAK3
SMO
ETV5
ERBB3
KIT
CCND1
NTRK1
ERBB4
KRAS
CDK6
NTKR2
ESR1
MAP2K1
FGFR1
NTKR3
FGFR2
MAP2K2
FGFR4
PPARG
Test Limitations
Testing has been performed assuming that the sample received belongs to the above named individual(s) and any stated
relationships between individuals are accepted as true.
Negative (wild type) result does not rule out the presence of a mutation that may be present but below the limits of detection of
this assay. The analytical sensitivity of this assay is 5%. Sequencing is performed at a depth of 500x
This test does not differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the
significance of results if there is a potential hereditary risk.
Due to inherent technology limitations, coverage is not uniform across all regions. Hence pathogenic variants present in areas
of insufficient coverage may not be analyzed/ reported.
The classification and interpretation of all the variants in this assay reflects the current state of scientific understanding at the
time this report was issued. In some instances, the classification and interpretation of such variants may change as new
scientific information comes to light.
Test results should be interpreted in context of clinical findings, tumor sampling, histopathology, and other laboratory data.
If results obtained do not match other clinical laboratory findings, please contact the laboratory for possible. Misinterpretation
of results may occur if the information provided is inaccurate or incomplete.
Page 3 of 4
Case ID : - 31206300275
Patient Name : RAMA
Approved by Dr. Kunjal Patel
Page Number : 3 out of 4
Neuberg Center for Genomic Medicine (A Unit Of NSRL)
GTPL House Lane, Near East Ebony, Sindhu Bhavan Road, Bodakdev, Ahmedabad | Email: contact@ncgmglobal.com | www.ncgmglobal.com | Phone: 07961618111 / 6357244307
Reviewed By
Dr. Anjali Deshmukh
MBBS, DNB (Path.), PDF
Consultant- Molecular Pathologist
31206300275-Mrs. RAMA SUBBAMMA C-53 Years-Female
Dr. Kunjal Patel
MBBS, DNB, PDF (TMC)
Molecular Oncopathologist
Page 4 of 4
Case ID : - 31206300275
Patient Name : RAMA
Approved by Dr. Kunjal Patel
Page Number : 4 out of 4
Neuberg Center for Genomic Medicine (A Unit Of NSRL)
GTPL House Lane, Near East Ebony, Sindhu Bhavan Road, Bodakdev, Ahmedabad | Email: contact@ncgmglobal.com | www.ncgmglobal.com | Phone: 07961618111 / 6357244307