AML-M2 with der(18)t(1;18)(q2?;p11.3) in addition to t(8;21) and del(9q).

We report a case of Acute Myeloid Leukemia with clinical features suggestive of AML-M3 and 46,XX,t(8;21),del(9q),der(18)t(1;18) karyotype leading to the final diagnosis AML-M2 in light of t(8;21). The Deletion (9q) is a frequent secondary anomaly to the t(8;21)(q22;q22) in AML-M2. In addition to these two AML-M2 related rearrangements we also observed der(18)t(1;18)(q2?;p11.3) which may be an unusual rearrangement. This rearrangement resulted into partial trisomy of chromosome #1(q2?) without the loss of any part of chromosome 18, morphologically. Rearrangements of long arm of chromosome 1 that result in complete or partial trisomy for 1q mostly involved the region q25-q32, which may confer a proliferation advantage.

An Increased Incidence Of C-Band Heteromorphism In Hereditary Breast Cancer Patients and Their Healthy Blood Relatives An Indian Experience.

Healthy blood relatives (HBR) of the hereditary breast cancer (HBC) patients are considered to be at higher risk to develop cancer. However, all of them do not suffer from same. This may indicate the possibility of association with genetic polymorphism among them. We have studied this genetic polymorphism in terms of C-band heteromorphism among 11 HBC patients, 36 HBR and results were compared with 22 control females. Significantly higher incidence (p < 0.001) of C-band heteromorphism has been observed among the HBC patients and their HBR as compared to the control females. At the same time, however, the difference in incidence of C-band heteromorphism among HBC patients and their HBR were not statistically significant. The findings indicate possibilities of (i) an association between C-band heteromorphism and hereditary breast cancer, and (ii) C-band heteromorphism may be one of the important factors conferring HBR at an elevated risk to develop the breast cancer.

Constitutive Heterochromatin Polymorphism In Pediatric Cancer Patients.

Incidence of constitutive C-band heteromorphism (CBH) is reported to be higher in patients with malignancy by some studies, while in others no difference is reported between control and malignant conditions. We have studied incidence of CBH in pediatric cancer patients in terms of > 25% size difference between the homologues of chromosome #1, #9 and #16 and compared it with (i) age-matched controls, (ii) controls with minimum 60 years of age and (iii) parents/siblings of pediatric cancer patients and overall prevalence of CBH was comparable between patients and three groups of control subjects. Statistically significant difference was observed between the total lengths of C-band of chromosome #1 for pediatric cancer patients and first degree relatives group (p < 0.01). 17 families of pediatric cancer patients were studied for the pattern of CBH. In three patients, CBH analysis, more number of cancer families and normal pedigrees will be more informative. The problem still remains unresolved and should be analyzed qualitatively using techniques of molecular cytogenetics.