A case of chronic neutrophilic leukemia with deletion (11)(q23).

We report a case of chronic neutrophilic leukemia (CNL) in a 68-year-old man. Karyotype showed a clonal abnormality, never described before in CNL: 46,XY,del(11)(q23). Southern blot analysis of the MLL gene did not reveal any rearrangement, and reverse transcriptase polymerase chain reaction (RT-PCR) analysis did not show any fusion of BCR-ABL. Treatment with hydroxyurea and cytosine arabisonide was ineffective.

[Treatment of polycythemia. II.--Comparison of hydroxyurea with pipobroman in 294 patients less than 65 years of age]. / Traitement des polyglobulies. II.--Comparaison de l'hydroxyurée et du pipobroman chez 294 malades âgés de moins de 65 ans.

AIMS: To compare by a prospective study in low risk polycythemia vera (PV) patients alone two drugs: hydroxyurea and pipobroman. Toxicity, efficiency, and leukemogenic potential were studied. PATIENTS: 294 patients with a documented PV, aged less than 65 years, have been included since 1980 in a prospective study comparing hydroxyurea and pipobroman. Blood cell counts were performed every two months and a clinical evaluation by a specialist was obtained every four or six months. RESULTS: Hematologic toxicity of both drugs was higher than expected, requiring strict surveillance. These drugs were tolerated in some (gastric pain and diarrhea on pipobroman, buccal aphtosis and chronic leg ulcers on hydroxyurea), leading to a change of arm in 10% of the cases. Hydroxyurea did not control the megakaryocitic hyperplasia in 40% of the cases, which probably explains a high rate of progression to myelofibrosis with myeloid metaplasia in this arm. Both drugs were leukemogenic with an actuarial risk of about 15% at the 15th year, not significantly lower than that observed in the 32P treated patients. A significant risk of cutaneous malignancy was observed in the hydroxyurea arm. The mean expectancy of life cannot yet be accurately evaluated, but seems significantly lower than that of the reference population. CONCLUSION: The treatment of PV by hydroxyurea or pipobroman has to account for these results less optimistic than those traditionally well-known to hematologists and internists.

[Familial cancer of the colon without polyposis and the familial cancer syndrome. Apropos of 2 cases over 3 generations]. / Cancer familial du côlon sans polypose et syndrome familial de cancer. A propos de deux observations portant sur trois générations.

Two cancer-prone families are reported. In the first one four first-degree relatives over three generations presented a colonic carcinoma, three of them at a proximal anatomic site. For grandmother and father these occurred at ages of 43 and 54 years, respectively, for the son and the daughter at ages of 26 and 22. The grandmother underwent a palliative ileotransversostomy, surgery typically associated with a bad prognosis, but she survived for forty years that initial neoplasm and had an hysterectomy with oophorectomy at age of 63 for endometrial malignancy; she deceased at age of 83 a few days after surgical treatment of tumoral small bowel obstruction: pathological evaluation disclosed a fourth cancer on first duodenum. The second kindred shows over three generations 11 cancer-affected individuals, three of them with double primary cancer: breast and sigmoid, breast and endometrium, colon and Hodgkin disease. This pedigree includes 8 colorectal neoplasms occurring at 47 years of mean age. These findings are consistent with the cancer-family syndrome and hereditary non-polyposis colon cancer described by Henry Lynch upon four criteria: high frequency of adenocarcinoma, excess of multiple primary malignancies, synchronous or metachronous, early age of onset of cancer and autosomal dominant inheritance. Moreover the hereditary colon cancer is usually localised to the proximal colon, not associated to polyposis coli and allows a prolonged survival. Up to day such families are only identified by pedigree data. The identification of a cancer-prone family calls for an active follow-up of relatives putatively at risk starting at the age of 15 to 20.

[Partial trisomy 21 (21q21 - 21q22.2)]. / Trisomie 21 partielle (21q21 leads to 21q22.2)

An abnormal chromosome 21 is reported in a child with a phenotype strongly reminiscent of trisomy 21 syndrome. It is shown to result from duplication of the segment 21q21 leads to 21q22.2. Comparison of the phenotype with that of other partial and total trisomics shows that the characteristic features of the trisomy 21 syndrome (mongolism), the mental retardation in particular - is due to trisomy 21q22.2 and perhaps 21q22.2.