MET exon 14 skipping (METex14) is a validated oncogenic driver in lung cancer and MET tyrosine kinase inhibitors are now available as effective clinical treatments. The majority of known METex14 alterations are typical donor/acceptor splicing or ubiquitination site mutations. Herein, two new METex14 variants were detected in two patients with lung adenocarcinoma by targeted next generation sequencing (NGS). Reverse transcription (RT)-based analysis confirmed that these mutations led to MET exon 14 skipping. Our analysis provided evidence for possible targeted therapy options for patients carrying these MET mutations or similar METex14 analogs.

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OBJECTIVE: Karyotype is the most important diagnostic and prognostic parameter in myelodys-plastic syndrome (MDS). Here, we describe a novel case of MDS with complex chromosomal abnormalities.
METHODS: A 55-year-old Chinese female was admitted to the hospital for facial edema and a loss of appetite. Bone marrow aspiration showed the blast cell count 3.6%. Erythrocyte hyperplasia was active, megaloblastoid change was observed, and a wide variability of nuclear numbers, as well as variability of size and shape was present. Bone marrow chromosomal analyses showed 45~48, X, -X, -4, t (5;8) (q13;q22), add (7) (q11), add (13) (p11), -14, del (16) (p13), add (19) (q13), -20, i(21)(q10),+4~6mar [cp15]/46,XX[5]. The patient was diagnosed with MDS with WPSS of the high risk group. IPSS was medium risk-2. IPSS-R was categorized as the extremely high risk group.
CONCLUSIONS: The prognosis and treatment of MDS with complex chromosomal abnormalities are still uncertain, and further studies are needed.

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OBJECTIVE: To delineate laboratory and clinical characteristics of a case with chronic myelogenous leukemia (CML) and co-occurrence of t(9;22)(q34;q11) and t(8;21)(q22;q22).
METHODS: The patient was subjected to cytogenetic, molecular, morphological and immunophenotypic analyses.
RESULTS: Cytogenetic analysis revealed presence of t(8;21)(q22;q22) in addition to t(9;22)(q34;q11) in the patient. Chimeric BCR/ABL and AML1/ETO genes were detected by fluorescence in situ hybridization (FISH). Transcripts of BCR/ABL210 and AML1/ETO fusion genes were detected by relative quantity PCR. Morphological study suggested that the patient was at the chronic phase of CML. No significant immunophenotypic abnormality was detected by flow cytometry.
CONCLUSIONS: Co-occurrence of t(8;21)(q22;q22) and t(9;22)(q34;q11) is rare in CML. Only 5 similar cases have been described previously. This case suggested that chromosomal alterations may precede morphological, flow cytometric and clinical changes and accelerate progression of the disease.

Burkitt leukemia (BL) with the precursor B-cell immunophenotype is a rarely reported condition. The prognosis of such patients is similar to that of classic BL. However, the combination of chromosomal translocations associated with bcl-2 and c-myc rearrangement has a poor prognosis.
An 11-year-old child presented with fever and weakness. Bone marrow aspiration showed morphologically L1 type blasts and flow cytometry analysis was compatible with precursor B-cell immunophenotype. Cytogenetic analysis revealed a combination of t(8;14) and t(14;l8).
The combination of t(8;14) and t(14;l8) can exhibit different immunophenotypical and morphologic features in leukemias.

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Lipoma is a benign tumor, typically of adulthood, with characteristic cytogenetic findings, including rearrangement of 12q13-15; these rearrangements often lead to the fusion of the HMGA2 gene at this locus to the transcriptional regulatory domain of its fusion partner, resulting in neomorphic activity that presumably facilitates the neoplastic process. Herein, we report a rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion in a 9 year-old boy. This case provides further evidence of the link between NFIB rearrangement and early-onset, deep-seated lipomatous tumors.

The present study describes a 36‑year‑old male with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte. To the best of our knowledge, this rare karyotype has not yet been reported in the literature. The results of detailed molecular‑cytogenetic studies of isodicentric (idic)Y chromosomes and isochromosome (iso)Y, which are identified in patient with complex mosaic karyotypes, are presented. The presence of mosaicism of the three cell lines 45,X, 46,X,i(Yq) and 46,X,idic(Yq) may be a contributing factor for spermatogenic failure, in addition to the instability of iso/idic Y chromosomes to pass the spermatogenesis process. Possible mechanisms of the formation of the mosaic karyotype and karyotype‑phenotype correlations are discussed. The current study highlights that routine karyotype analysis and fluorescent in situ hybridization‑based technology are more useful in detecting mosaic chromosomal abnormality, predicting the clinical features of patients during genetic counseling and improving artificial reproductive technologies.

OBJECTIVE: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13.
METHODS: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints.
RESULTS: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14)). Investigation of the breakpoints revealed that the 13q14.1 region encompasses FOXO1 (forkhead box 1) gene, which has an important role in granulosa cell function and follicle maturation.
CONCLUSIONS: Autosomal translocations are rare in women with POI. We have reported the first case of a de novo reciprocal translocation involving chromosomes 5 and 13 in a POI patient. As one of the breakpoints encompasses the FOXO1 gene, it seems that disruption of this gene can be the cause of POI in this patient. This provides further evidence on the role of autosomal translocations in disrupting POI-associated genes. Therefore, concentrating on the genes at the breakpoints will be helpful to delineate the new biological pathways or genes involved in POI pathogenesis.