ISBN : 9780323996228
Author : Xia Li
Publisher : Academic Press
Year : 2023
Language : English
Type : Book
Description : 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