Dataset Information

Atypical CML with TET2 mutation, associated with NRAS and KRAS: A case report and literature review.

ABSTRACT:

Background

Atypical chronic myeloid leukemia (BCR-ABL1 negative) is a rare myeloid neoplasm with poor prognosis and no current standard of treatment. It features both myelodysplastic and myeloproliferative characteristics with little data regarding mutations playing a role in the disease.

Presentation of case

We present a case of a 55-year-old female complaining of fever, cough, general weakness and night sweats. Examinations showed leukocytosis with a left shift, thrombocytopenia, hypercellular bone marrow with marked granulocytic hyperplasia and a negative BCR-ABL. After ruling out myelodysplastic and other myeloproliferative diseases the patient was finally diagnosed as aCML according to the WHO criteria with mutations in the TET2 gene, the NRAS gene and in the KRAS gene. The patient was started on Hydroxyurea for a duration of 9 months with an excellent initial response leading to normalization of her platelets and WBCs. However, in the last month she stopped responding to therapy and her state of health started declining once again.

Conclusion

Atypical chronic myeloid leukemia (BCR-ABL1 negative with presence of TET2 gene mutation) is an unusual finding in myeloid neoplasms, have unknown prognosis and no current standard of treatment. It features both myelodysplastic and myeloproliferative characteristics with little data regarding mutations playing a role in the disease.

SUBMITTER: Abuzneid YS

PROVIDER: S-EPMC8606696 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. Comprehensive mutation analysis of NF1, PTPN11, SOS1, CBL, BRAF, RAF1, SHOC2, MAP2K2, MAP2K1, SPRED1, NRAS, HRAS and KRAS was performed using targeted next-generation sequencing. The result revealed a recurrent mutation in NRAS, c.179G > A (p.G60E), in the index patient. This mutation was inherited from the index patient's father, who also showed signs of NS.We describe clinical features in this family and review the literature for genotype-phenotype correlations for NS patients with mutations in NRAS. Neither of affected individuals in this family presented with juvenile myelomonocytic leukemia (JMML), which together with previously published results suggest that the risk for NS individuals with a germline NRAS mutation developing JMML is not different from the proportion seen in other NS cases. Interestingly, 50% of NS individuals with an NRAS mutation (including our family) present with lentigines and/or Café-au-lait spots. This demonstrates a predisposition to hyperpigmented lesions in NRAS-positive NS individuals. In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. The clinical and genetic heterogeneity observed in RASopathies is a challenge for genetic testing. However, next-generation sequencing technology, which allows screening of a large number of genes simultaneously, will facilitate an early and accurate diagnosis of patients with RASopathies.

Project description:BackgroundAdult-onset colonic intussusception is a rarely encountered condition that leads to large intestinal obstruction with time. Patients often present with a variety of symptoms that are non-specific making it challenging to arrive at a definitive diagnosis. This is worrying as diagnostic delay could lead to a significant increase in morbidity and mortality. We wish to present and describe a case of an atypical endoscopic finding of colocolic intussusception secondary to ascending colon cancer.Case descriptionSixty-seven-year-old lady was referred for 1 month's duration of passing melenic stools with mucus followed by a week's complain of hematochezia. Clinical examination and other relevant blood results were unremarkable except for iron deficiency anemia. Initial colonoscopy revealed a large mass within the splenic flexure with inconclusive biopsies. A more detailed colonoscopy repeated the following day revealed a massive, black-to-yellowish lesion within the splenic flexure with no viable mucosa seen. Colonic bezoar was initially suspected, however various endoscopic retrieval methods proved futile. Switching to a slimmer diagnostic gastroscope, the colon was carefully negotiated until a large ulcer was found within the ascending colon, adjacent to the mass' origin. An emergency CT abdomen and subsequently extended right hemicolectomy performed revealed a colocolic intussusception with sealed perforation secondary to an ascending colonic mass acting as an intussusceptum. Histopathology evaluation confirmed an ascending colon adenocarcinoma (pT2N0M0) amidst a background of extensive ischemic changes.ConclusionsEndoscopic descriptions of colonic intussusception are unusual given their rarity. Furthermore, these lesions can mimic a colonic bezoar as a result of fecal accretion and this can ultimately lead to false diagnostic and therapeutic decisions. In such instances, clarification with a CT scan before management decision can potentially avert unnecessary endoscopic intervention and complications.