We report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. Skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a polyaetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.

We examined SCC development of 24 FA patients, who received HSCT from HLA‐matched relatives. In our BMT center, we applied low‐dose CY + LFI + ATG (n:13) as conditioning regimen for FA patients between 1992 and 1999, and CY + BU + ATG (n:11) between 1999 and 2002. The aim of this study was to investigate SCC development after HSCT and examine features of the follow‐up patients. The 10‐year overall survival (OS) of the group with LFI + regimen was 43%, whereas the group without LFI regimen was 60%. There was a statistically significant relationship between infections (viral/bacterial) and overall survival (Fisher's Exact test P < .001). Five out of 13 long‐term (>1 year) surviving patients developed SCC in the HNSCC (n:4) and esophagus (n:2) region (a patient with oral SCC developed a second primary esophageal SCC). The SCC rate in our FA patients was 38%, four of the SCC patients were transplanted with irradiation used conditioning regimens, three of them had acuteGvHD (Grade II‐III), only one developed chronic GvHD. The interval between HSCT and SCC diagnosis was median 13 (range 6‐18) years, the age for the development of cancer was median 21 (range 15‐32) years. Survival after SCC was low, median 6 months (range 6‐12), due to delayed SCC diagnosis, tumor progression under therapy and treatment‐related toxicities of the usually reduced RT and/or CT.

Objective: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations. Materials and Methods: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. Results: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15) (q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22) (q11;q13;q34;q11). Conclusion: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented cases had variant Ph chromosomes not previously described, 1 of which had a new complex Ph translocation involving chromosomes 1, 3, 9, 22, and t(1;9;22;3)(q24;q34;q11;q21) apart from a clone with a classical Ph, and the other case had variant Ph translocation with chromosomes 4, 8, 9, and 22, and t(4;8;9;22)(q11;q13;q34;q11) full complex translocation. Number of studies reported that some patients with variant Ph translocation were poor responders to imatinib. All of our patients with variant Ph translocations had suboptimal responses to imatinib, denoting a poor prognosis also. Variant Ph translocations may be important as they are associated with prognosis and therapy for CML patients. (Turk J Hematol 2011; 28: 186-92)

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A Pit-bull and a Beagle, both one-year-old, with complaints of an enlarged clitoris were clinically suspected for hermaphroditism. The enlarged clitoris, the uteri and the gonads were removed surgically from each animal and submitted to our department for histopathological evaluation. Tissue samples were fixed with 10% buffered formalin solution and processed routinely, after which paraffin sections were obtained and stained with H&amp;E. A blood sample was taken from the Beagle dog and a peripheral lymphocyte culture was prepared. While the clitoris and uteri were confirmed histopathologically, the gonads were detected as a testis instead of an ovary for both dogs. Additionally, cytogenetic evaluation revealed a normal female chromosome complement, 78, XX for the Beagle dog. According to the gonadal and phenotypic sexes, both cases were first determined as &lsquo;male pseudohermaphroditism&rsquo;, a phenotypic sex disorder. However, after karyotyping analysis, we concluded that the 78, XX Beagle dog should be defined as suffering from XX sex reversal syndrome, a gonadal sex disorder. &nbsp;

OBJECTIVES:Multiple genetic changes are observed in malignant tumors but are rare or absent in benign conditions. Aneuploidy is the most common feature of solid tumors including lung cancer and diagnosis of malignant tumors is possible through detection of aneuploidy. The aim of this study was to investigate chromosomal abnormalities in cells from non-small cell lung cancer patients obtained bronchoscopically and to evaluate the suitability of fluorescence in situ hybridization (FISH). MATERIAL AND METHODS:Bronchial lavage samples of 17 non-small cell lung cancer (NSCLC) patients were evaluated with fourcolor FISH using deoxyribonucleic acid (DNA) probes specific for the centromere regions of chromosomes 3, 7 and 8. tested specimens were first hybridized with probes, then visualized under fluorescence microscobeand captured with device's camera. RESULTS:High number of aneuploidic cells were detected in all the samples. Increased or decreased abnormal copies or chromosomes 3, 7 and 8 were obserced in all the 17 patients. Aneuploidy of chromosome 3 (21.35%) was higher than those of chromosome 7 (9.06%) and chromosome 8 (15.47%). Moreover, our results were significant for monosomy and trisomy of chromosome 3, trisomy of chromosome 7, nullisomy, monosomy and trisomy of, chromosome 8 (p< 0.05). CONCLUSION:It has been observed that FISH is a useful technique for detection of aneuploidy in bronchial lavage samples obtained by bronchoscopy. Interphase cells were evaluated without cell culturing with this method and high number of tumor cells were enumerated rapidly. Our study has demonstrated that, FISH technique may be used successfully in detection of chromosome number abnormalities in NSCLC patients and may facilitate evaluation of genetic abnormalities.

We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome). He also has penile agenesis, clavicular flattening and cerebellar anomalies. This patient was classified as a severe form of OFD type II-Mohr syndrome but the possibility of this being OFDS VI-Varadi syndrome or a new form of OFDS cannot completely be excluded.