INV-17 topical / Innovimmune Biotherap - LARVOL DELTA

Acute Myeloid Leukemia with BCR::ABL1+ Fusion: A Report of Two Cases and Review of Literature. (PubMed, Case Rep Oncol) - "Her initial cytogenetic analysis showed t(9;22) translocation with loss of chromosomes 12 and 17, derivative of chromosome 1, pericentric inv(17), and two small marker chromosomes...She received multiple combinations of chemotherapy, consisting of dasatinib, cytarabine, and idarubicin...She was lost to follow-up. With ever improving therapy available and few cases in the literature, correct and timely diagnosis with proper management of AML with BCR::ABL1+ is warranted."

Journal • Acute Lymphocytic Leukemia • Acute Myelogenous Leukemia • B Acute Lymphoblastic Leukemia • Chronic Myeloid Leukemia • Hematological Disorders • Hematological Malignancies • Human Immunodeficiency Virus • Infectious Disease • Leukemia • Oncology • Thrombocytopenia • ABL1 • CD34 • KIT

Heterozygous Inversion on Chromosome 17 involving PAFAH1B1 Detected by Whole Genome Sequencing in a Patient Suffering from Pachygyria. (PubMed, Eur J Med Genet) - "Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.02M bps on chromosome 17 [seq[GRCh37]inv(17)(p13.3p13.2)|NC_000017.10:g.2562761_3581978inv] involving the PAFAH1B1 gene...The findings align with the known characteristics of this disorder, extending the understanding of the molecular mechanisms underlying pachygyria. This identification offers new insights for individuals with developmental delays and brain malformations to uncover the genetic cause of their conditions."

Journal • CNS Disorders • Developmental Disorders

TRANSPOSABLE ELEMENT PARTICIPATES IN COMPOSING STAT3::RARA::LTR40A-RC TRINARY FUSION IN VARIANT ACUTE PROMYELOCYTIC LEUKEMIA AND CONFERS ATRA RESISTANCE VIA LIGAND BINDING DOMAIN TRUNCATION (EHA 2023) - "The karyotype showed inv(17)(p12q21)... This is the first report of pathological trinary fusion, the first report of transposable element participates in composing pathological fusion gene, and the first report of the RARA LBD truncation confers ATRA resistance in APLv. Moreover, in the two previously reported STAT3::RARA cases, the authors also observed breakpoints of exon 9 at the genomic level but did not conduct further analysis [Blood. 2018; 131(8):935- 939.]."

Acute Myelogenous Leukemia • Acute Promyelocytic Leukemia • Anemia • Hematological Disorders • Hematological Malignancies • Leukemia • Oncology • Pain • STAT3

CYTOGENETIC FINDINGS IN 18 CHILDREN WITH MYELODYSPLASTIC SYNDROMES BY KARYOTYPIC AND FISH ANALYSIS (EHA 2022) - "Monosomy 7 was observed in 2/18 patients (>70% of metaphases), +8 in 2/18 patients (5-6.6% of metaphases), inv(17)(p11.2q21) in 1/18 patients (18.75% of metaphases), complex karyotypes in 2/18 patients (31.3-73.2% of metaphases including abnormalities of 1q, 2q, 4q, 5q, 16q, 18 and Xp), in one patient after SCT in the transformation of MDS into s-AML and in the other at diagnosis with t-MDS) and chromatid and chromosome breaks in 1/18 patients, (8,6-9,6% of metaphases) in 2 different BM samples taken with an interval of 3 months, which were also found in his brother’s BM karyotype...Clonal chromosome abnormalities can be detected at low frequencies in the karyotypes of pediatric MDS patients so except from iFISH, mFISH is also needed especially in cases with small clones or submicroscopic translocations. The low frequency of submicroscopic aberrations such as p53 deletions observed in 3 cases of hypocellular RCC must be confirmed in larger studies by molecular..."

Clinical • Acute Myelogenous Leukemia • Hematological Malignancies • Myelodysplastic Syndrome • Oncology • Pediatrics • Rare Diseases • Renal Cell Carcinoma • ATM • KMT2A • TP53

Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes. (PubMed, JCI Insight) - "G-banded karyotyping revealed that the patient harbors a heterozygous nonpathogenic inversion, inv(17)(p13q12), whose long-arm breakpoint was subsequently refined to chromosomal positions (chr17: 36,544,407-36,639,830) via FISH...This study provides the first evidence to our knowledge implicating chromosomal inversions as a potential modifier of clinical phenotypes. Furthermore, the reduced occurrence of revertant spots in the recombination-suppressed patient suggests that somatic recombination is the main mechanism of revertant mosaicism in IWC-I."

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