Monosomy 7

del(7q) refers to a deletion of the long arm (q arm) of chromosome 7. It is a cytogenetic abnormality commonly seen in myeloid malignancies, particularly myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).

Here’s a detailed breakdown:

Cytogenetic Definition

• Chromosome 7 has a short arm (p) and a long arm (q).
• del(7q) = loss of a portion of the long arm.
• Can occur as:
  • Isolated del(7q)
  • Part of a complex karyotype

Clinical Significance

1. Associated Disorders
   • MDS (most common)
   • AML, especially secondary AML or therapy-related AML (t-AML)
   • Less commonly, myeloproliferative neoplasms
2. Prognosis
   • Considered an adverse-risk cytogenetic abnormality per ELN 2022 for AML
   • Associated with:
     • Higher risk of treatment resistance
     • Poor overall survival
     • Increased risk of transformation to AML (if in MDS)
3. Therapeutic Implications
   • Patients may require intensive therapy and are often considered for allogeneic hematopoietic stem cell transplant (HSCT) if eligible.
   • Hypomethylating agents (azacitidine or decitabine) may be used in unfit patients.

Key Points

• del(7q) = poor prognosis
• May appear isolated or with other cytogenetic abnormalities (worse if complex karyotype).
• Often therapy-related in patients with prior chemotherapy/radiation.

If you want, I can make a table of common AML/MDS cytogenetic abnormalities with their risk category, prognostic significance, and typical treatment considerations, which is very handy for clinical pharmacy reference.