Cases in Laboratory Genetics and Genomics (LGG) Practice
- 1st Edition - June 5, 2023
- Author: Xia Li
- Language: English
- Paperback ISBN:9 7 8 - 0 - 3 2 3 - 9 9 6 2 2 - 8
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 9 6 2 3 - 5
Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenet… Read more
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Request a sales quoteCases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders which lab professionals and geneticists encounter daily in the diagnostic field. Each disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references.
The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing.
- Presents clinical cases illustrating the complexity of the genetic abnormalities and successful diagnoses
- Discusses the technologies best suited to detect DNA mutations, copy number variations, and chromosome or RNA translocations
- Aids lab professionals in ensuring tests ordered are optimal for clinical indications
- Prepares trainees for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam
Human geneticists; Pathologists; Medical Geneticists. Students and trainees of human genetics, medical genetics, and pathology; genetic counselors
- Cover image
- Title page
- Table of Contents
- Copyright
- Dedication
- Contributors
- Foreword
- Preface
- Acknowledgments
- Part I: Inborn diseases
- 1: Multiple congenital anomalies and developmental delay
- Abstract
- Background
- Case 1.1 Multiple congenital anomalies caused by an unbalanced translocation
- Case 1.2 Recombinant chromosome 8 syndrome
- Case 1.3 Multiple congenital anomalies caused by an unbalanced translocation and a deletion
- Case 1.4 Diamond-Blackfan anemia
- Summary of key learning points
- References
- 2: Molar pregnancy
- Abstract
- Background
- Case 2.1 Complete mole
- Case 2.2 Partial mole
- Summary of key learning points
- References
- 3: Sex chromosomal abnormalities
- Abstract
- Background
- Case 3.1 Female with 45,X/46,XY mosaicism
- Case 3.2 Sex reversal
- Case 3.3 Variant turner syndrome
- Case 3.4 Indeterminate sex with an abnormal Y chromosome
- Case 3.5 Klinefelter syndrome (47,XXY)
- Case 3.6 Klinefelter syndrome variant (48,XXYY syndrome)
- Summary of key learning points
- References
- 4: Consanguinity
- Abstract
- Background
- Case 4.1 Multiple congenital anomalies due to family history of consanguinity
- Case 4.2 Multiple developmental disorders due to consanguinity and Charcot-Marie-tooth disease type 1A
- Summary of key learning points
- References
- 5: Uniparental disomy and imprinting disorders
- Abstract
- Background
- Case 5.1 Prader-Willi syndrome
- Case 5.2 Prader-Willi/Angelman syndrome
- Case 5.3 Angelman syndrome
- Case 5.4 Gaucher disease
- Case 5.5 Uniparental disomy 7
- Summary of key learning points
- References
- 6: Pallister-Killian syndrome
- Abstract
- Background
- Case 6.1 Pallister-Killian syndrome
- Case 6.2 Pallister-Killian syndrome
- Summary of key learning points
- References
- 7: Fragile X syndrome
- Abstract
- Background
- Case 7.1 Fragile X syndrome in a male with a full mutation
- Case 7.2 Fragile X syndrome in a female with a full mutation
- Summary of key learning points
- References
- 8: Overgrowth syndrome
- Abstract
- Background
- Case 8.1 Sotos syndrome
- Case 8.2 Somatic overgrowth syndrome with PIK3CA mutation
- Summary of key learning points
- References
- 9: Contiguous gene syndrome
- Abstract
- Background
- Case 9.1 Haploinsufficiency of A20 (HA20) with 3.4 Mb deletion
- Case 9.2 Haploinsufficiency of A20 (HA20) with 11.7 Mb deletion
- Case 9.3 Contiguous gene syndrome with duplication of 22q11.2q12.1
- Case 9.4 Contiguous gene syndrome with duplication of 6q16.1q23.3
- Case 9.5 DiGeorge/Velo-cardio-facial (VCF) syndrome (22q11.2 deletion syndrome)
- Case 9.6 Contiguous gene syndrome with a deletion of 1q43q44
- Summary of key learning points
- References
- 10: Thrombosis
- Abstract
- Background
- Case 10.1 Deep vein thrombosis
- Summary of key learning points
- References
- 11: Pharmacogenomics
- Abstract
- Background
- Case 11.1 Overdose acetaminophen (APAP)
- Summary of key learning points
- References
- Part II: Hematologic malignancies
- 12: Chronic myeloid leukemia
- Abstract
- Background
- Case 12.1 Chronic myeloid Leukemia (CML) with t(1;9;22;15)(p32;q34;q11.2;q25)
- Case 12.2 Chronic myeloid leukemia (CML) with t(9;22;17)(q34;q11.2;q24)
- Case 12.3 Chronic myeloid leukemia (CML) with t(9;22)(q34;q11.2)inv(22)
- Case 12.4 Chronic myeloid leukemia and acute lymphoblastic leukemia with t(9;22)(q34;q11.2)
- Summary of key learning points
- References
- 13: Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions
- Abstract
- Background
- Case 13.1 Myeloid/lymphoid neoplasm (MLN) with FGFR1 rearrangement
- Case 13.2 Myeloid/lymphoid neoplasm (MLN) with PDGFRA rearrangement (LNX1 Deletion by FISH)
- Case 13.3 Myeloid/lymphoid neoplasm (MLN) with PDGFRA rearrangement (CHIC2 Deletion by CMA)
- Case 13.4 Myeloid/lymphoid neoplasm (MLN) with PDGFRB rearrangement
- Case 13.5 Myeloid/lymphoid neoplasm (MLN) with a variant PDGFRB rearrangement
- Case 13.6. Myeloid/lymphoid neoplasm with JAK2 rearrangement
- Summary of key learning points
- References
- 14: Myelodysplastic/myeloproliferative neoplasms
- Abstract
- Background
- Case 14.1 Chronic myelomonocytic leukemia (CMML)
- Case 14.2 Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
- Summary of key learning points
- References
- 15: Myelodysplastic neoplasms
- Abstract
- Background
- Case 15.1 Myelodysplastic neoplasms with excess blasts-2 (MDS EB-2)
- Case 15.2 Myelodysplastic neoplasms: Refractory anemia with ring sideroblasts (RARS)
- Case 15.3 High-grade myelodysplastic neoplasms (MDS)
- Case 15.4 Myelodysplastic neoplasms with excess blasts (MDS EB-1) transforming to AML
- Case 15.5 Myelodysplastic neoplasms: Refractory cytopenia with multilineage dysplasia (MDS-RCMD)
- Summary of key learning points
- References
- 16: Acute myeloid leukemia (AML)
- Abstract
- Background
- Case 16.1 Acute myeloid leukemia (AML) with t(3;21)(q26.2;q22)/RUNX1::MECOM fusion
- Case 16.2 Acute myeloid leukemia (AML) with t(6;9)(p22;q34)/DEK::NUP214 fusion
- Case 16.3 Acute myeloid leukemia (AML) with t(9;11)(p21;q23)/KMT2A::MLLT3 fusion
- Case 16.4 Acute myeloid leukemia (AML) with t(8;21;21)(q22;p13;q22)/RUNX1::RUNX1T1 fusion
- Case 16.5 Acute myeloid leukemia (AML) with CEBPA double mutations
- Case 16.6 Acute myeloid leukemia (AML) with a complex karyotype and TP53 mutation
- Case 16.7 Acute promyelocytic leukemia (APL) with a typical PML::RARA fusion and FLT3-ITD mutation
- Case 16.8 Acute promyelocytic leukemia (APL) with a variant ZBTB16::RARA fusion
- Case 16.9 Acute promyelocytic leukemia (APL) with a cryptic PML::RARA fusion
- Case 16.10 Acute myeloid leukemia (AML) with jumping translocations
- Case 16.11 Acute myeloid leukemia (AML) with a complex karyotype and multiple mutations
- Case 16.12 Acute myeloid leukemia (AML) with t(10;11)(p12;q23)/KMT2A::MLLT10 fusion
- Case 16.13 Acute myeloid leukemia (AML) with t(11;19)(q23;p13.3)/KMT2A::MLLT1 fusion
- Case 16.14 Acute myeloid leukemia with NUP98::KDM5A fusion
- Summary of key learning points
- References
- 17: Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
- Abstract
- Background
- Case 17.1 Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
- Summary of key learning points
- References
- 18: Acute leukemias of ambiguous lineage
- Abstract
- Background
- Case 18.1 Mixed phenotype acute (B/myeloid) leukemia (MPAL) with a complex karyotype
- Case 18.2 Mixed phenotype acute (B/myeloid) leukemia (MPAL) with FLT3-ITD and other mutations
- Case 18.3 Mixed phenotype acute (B/myeloid) leukemia (MPAL) with RUNX1 mutation
- Summary of key learning points
- References
- 19: Precursor lymphoid neoplasms
- Abstract
- Background
- Case 19.1 B-lymphoblastic leukemia (B-ALL, Ph+) with T315I resistance mutation
- Case 19.2 B-lymphoblastic leukemia (B-ALL, Ph+) with a complex karyotype
- Case 19.3 Relapsed B-lymphoblastic leukemia (B-ALL, Ph−) with a complex karyotype
- Case 19.4 B-lymphoblastic leukemia (B-ALL) with t(12;21)(p13;q22)/ETV6::RUNX1 fusion
- Case 19.5 Ph-like B-lymphoblastic leukemia (Ph-like ALL) with CRLF2 rearrangement
- Case 19.6 T-lymphoblastic leukemia (T-ALL) with t(10;11)(p12;q21)/PICALM::MLLT10 fusion
- Case 19.7 T-lymphoblastic leukemia (T-ALL) with t(11;18)(p15;q12)/NUP98::SETBP1 fusion
- Case 19.8 T-lymphoblastic leukemia (T-ALL) with t(1;14)(p32;q11.2)/TRA::TAL1 fusion
- Case 19.9 T-lymphoblastic leukemia (T-ALL) with t(11;14)(p13;q11.2)/LMO2::TRD fusion
- Case 19.10 Ph-like B-lymphoblastic leukemia (Ph-like ALL) with CRLF2 rearrangement and t(2;8)(p12;q24)/IGK::MYC fusion
- Case 19.11 B-lymphoblastic leukemia (B-ALL) with t(1;19) (q23;p13.3)/TCF3::PBX1 fusion
- Case 19.12 B-lymphoblastic leukemia (B-ALL) with iAMP21
- Case 19.13 Ph-like B-cell lymphoblastic leukemia (Ph-like ALL) with IGH and CRLF2 rearrangements
- Summary of the key learning points
- References
- 20: Mature B-cell neoplasms
- Abstract
- Background
- Case 20.1 Atypical B-cell chronic lymphocytic leukemia (CLL)
- Case 20.2 Mantle cell lymphoma (MCL)
- Case 20.3 Small B-cell lymphoma/follicular lymphoma
- Case 20.4 Double-hit lymphoma
- Case 20.5 Double-hit lymphoma with BCL6 rearrangement
- Case 20.6 Plasma cell neoplasm
- Case 20.7 ALK-positive large B-cell lymphoma
- Case 20.8 Burkitt lymphoma (BL)
- Case 20.9 High-grade B-cell lymphoma with t(8;22)(q24;q11)/IGL::MYC fusion and JAK2 rearrangement
- Summary of key learning points
- References
- 21: Mature T-cell neoplasms
- Abstract
- Background
- Case 21.1 T-cell prolymphocytic leukemia (T-PLL)
- Case 21.2 Mycosis fungoides/Sezary syndrome (MF/SS)
- Case 21.3 T-cell leukemia/lymphoma with TRB rearrangement
- Case 21.4 Peripheral T-cell lymphoma with TRA/TRD rearrangement
- Summary of key learning points
- References
- Part III: Solid tumors
- 22: Lung cancer
- Abstract
- Background
- Case 22.1 Pulmonary adenocarcinoma with ALK::EML4 fusion
- Case 22.2 Pulmonary adenocarcinoma with EGFR p.(L858R) mutation
- Case 22.3 Squamous cell carcinoma with MET exon 14 skipping mutation
- Case 22.4 Pulmonary adenocarcinoma with KRAS p.(G12C) mutation
- Case 22.5 Pulmonary adenocarcinoma with ERBB2 exon 20 insertion
- Case 22.6 Pulmonary adenocarcinoma with TPM3::NTRK1 fusion
- Summary of key learning points
- References
- 23: Colorectal cancer
- Abstract
- Background
- Case 23.1 Metastatic colon cancer with BRAF p.(V600E) mutation
- Case 23.2 Metastatic colon cancer with KRAS p.(G12D) mutation
- Summary of key learning points
- References
- 24: Melanoma
- Abstract
- Background
- Case 24.1 Metastatic melanoma with BRAF p.(V600K) mutation
- Case 24.2 Metastatic melanoma with NRAS p.(Q61L) mutation
- Summary of key learning points
- References
- 25: Breast cancer
- Abstract
- Background
- Case 25.1 Invasive ductal carcinoma of breast origin with HER2 amplification
- Case 25.2 Adenocarcinoma of breast origin with PIK3CA p.(E545K) mutation
- Case 25.3 Adenocarcinoma of breast origin with PIK3CA p.(E545K) mutation and FGFR1 amplification
- Summary of key learning points
- References
- 26: Thyroid cancer
- Abstract
- Background
- Case 26.1 Anaplastic thyroid carcinoma with BRAF p.(V600E) mutation
- Case 26.2 Malignant thyroid cancer with KRAS p.(G12V) mutation
- Summary of key learning points
- References
- 27: Pediatric solid tumors
- Abstract
- Background
- Case 27.1 Ewing sarcoma (ES)
- Case 27.2 CIC-DUX fusion-associated sarcoma
- Case 27.3 Rhabdomyosarcoma
- Case 27.4 NTRK1-associated sarcoma
- Case 27.5 Aneurysmal bone cyst
- Case 27.6 Lipoblastoma
- Case 27.7 Pleuropulmonary blastoma-DICER1-associated tumors
- Case 27.8 Malignant peripheral nerve sheath tumor (MPNST)-Neurofibromatosis type 1
- Case 27.9 Neuroblastoma
- Summary of key learning points
- References
- Index
- Case Index
- No. of pages: 522
- Language: English
- Edition: 1
- Published: June 5, 2023
- Imprint: Academic Press
- Paperback ISBN: 9780323996228
- eBook ISBN: 9780323996235
XL
Xia Li
Dr. Xia Li is the Scientific Medical Director of Genetics/Genomics Division at Sonora Quest Laboratories and Associate Professor of Pathology Department at University of Arizona. She received her Ph. D degree in human genetics in 1995 from Fudan University in China, and had 4 years of training in cytogenetics and molecular genetics through the program of American Board of Medical Genetics and Genomics (ABMGG). She was certified in both Molecular and Cytogenetics through ABMGG. After training, she became the Associate Director of Cytogenetics Laboratory at AmeriPath Northeast from 2010 to 2013, and the Associate Director of Cytogenetics Laboratory at Cincinnati Children’s Hospital from 2013 to 2016. She joined Sonora Quest Laboratories in 2016, where she oversees the operation of the laboratory. She also participates in the teaching and training of medical students and residents. Dr. Li has been working in the field of Genetics/Genomics diagnostics for over 13 years with extensive experience in clinical diagnostics using karyotyping, FISH, PCR, microarray and NGS technologies. She has published over 50 peer-reviewed articles and owns 2 patents.
Affiliations and expertise
Scientific Medical Director, Genetics/Genomics Division, Sonora Quest Laboratories; Associate Professor, Pathology, University of Arizona - School of Medicine, Phoenix, Az, USARead Cases in Laboratory Genetics and Genomics (LGG) Practice on ScienceDirect