Thomas S. McConnell

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: Case report with autopsy

Clinical, cytogenetic, and autopsy findings are presented in the case of a liveborn female with multiple congenital anomalies mimicking trisomy 18 phenotype, but with partial deletion of the long arms of chromosome 2, region 2, bands 3 and 4.

Trisomy 6 as a Primary Karyotypic Aberration in Hematologic Disorders

We identified seven patients with hematologic disorders and trisomy 6 as the sole karyotypic aberration in bone marrow aspirates or unstimulated peripheral blood. Five patients were male and two were female; all were adults with ages ranging from 22 to 74 years. Three of the seven patients presented with manifestations of peripheral cytopenia. Their bone marrows were hypocellular with slight or no dysplastic changes and without an increase in blasts. One of these patients subsequently developed acute myeloid leukemia (AML-M1). The four remaining patients were initially diagnosed with AML--three consistent with French-American-British classification of M1 and M4 in the fourth patient. These results suggest that trisomy 6 is a nonrandom primary numerical anomaly of myeloid disorders. The association of cytopenia and hypoplastic bone marrow with trisomy 6 may constitute a new, distinctive variant among myelodysplastic syndromes.

Malignant melanoma arising in a giant congenital melanocytic nevus: A case report with cytogenetic and histopathologic analyses

A malignant melanoma developed in a 2‐year‐old Hispanic girl with a giant congenital melanocytic nevus (bathing‐trunk type). Histopathologic evaluation showed a deep‐seated tumor arising from a nonepidermal origin. Cytogenetic analysis demonstrated multiple chromosomal abnormalities in hyperdiploid cells (chromosome range, 56 to 61). No two karyotypes were identical, but many abnormalities were common to all analyzed cells, suggesting both karyotypic instability and evolution. The metaphases were monosomic for 3, 12, and 16, trisomic for 1, 2, 8, 19, 20, and 21, and included structural aberrations deletion 1 and derivatives 3 and 16. Eight markers were identified, including one ring. The extra 19 was possibly an isochromosome. No abnormalities of 6 or 10 were identified.

Signet ring cell adenocarcinoma of prostate

Primary signet ring cell adenocarcinoma of the prostate is a rare malignancy with a total of 13 cases reported to date in the English literature. We report a very unusual case of signet ring adenocarcinoma of the prostate occurring in a patient who presented initially with irritative voiding symptoms and a bladder mass. Results of immunohistochemical, flow cytometric, and cytogenetic analyses of the tumor are presented.

Do random (non-clonal) chromosome abnormalities in bone marrow predict a clone to come ?

The biologic significance of clonal karyotypic abnormalities in human neoplasms is becoming better understood, but the significance of rare chromosomal aberrations is uncertain. Useful, yet arbitrary, cytogenetic definitions of a clone have been established and cases with a frequency of chromosome aberrations less than the accepted convention are explained by random loss, karyotypic instability/evolution, or other technical artifact. Are non-clonal chromosomal abnormalities that may predict future clinically significant clones being ignored? A brief case report is presented raising two such issues in the same myelodysplastic patient. This child had monosomy 7 and, later, trisomy 8, as well as increased numerical/structural aberrations seeming to predict relapse. Preliminary data from the Southwestern Oncology group is also presented. Non-clonal data should be included, when appropriate, in the clinical report.

Investigation of hot air balloon fatalities.

The rising popularity of the sport of hot air ballooning has been accompanied by several recent incidents, both in this country and other parts of the world, where mechanical defects and the improper operation of balloons have resulted in several fatalities. A study was conducted to identify the location and frequency of hot air ballooning accidents. Furthermore, the study attempted to identify those accidents that were the result of improper handling on the part of the balloon operators and those that were related to specific defects in the construction of the balloon. This paper presents a background of the sport of hot air ballooning, together with an analysis of the construction of a typical hot air balloon, pointing out the specific areas where defects may occur that could result in a potential fatal balloon crash. Specific attention is given to the two recent balloon crashes that occurred in Albuquerque, N.M., hot air balloon capital of the world, and that resulted in multiple fatalities.

Clinicopathologic and dysmorphic findings in Recombinant chromosome 8 syndrome

Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting Hispanics from New Mexico and Colorado, were evaluated. A prevalence of cardiac and genitourinary anomalies was found, while few central nervous system abnormalities were observed. Dysmorphic features associated with recombinant 8 syndrome are presented, with descriptions of the inheritance pattern and recurrence risk. Because recombinant 8 syndrome is a chromosomal disorder that will appear more and more frequently as kindreds enlarge, pathologists must be alert to its diagnostic characteristics and genetic implications.

Rare electrocution due to powerline contact in a hot-air balloon: comparison with fatalities from blunt trauma

Powerline contact by hot-air balloons is one of the most frequent concurrences in balloon accidents resulting in injury or death. Injuries and deaths are usually a result of blunt trauma from falls. In this report, we describe the aircraft, the circumstances of the accidents and the autopsy data in two powerline contact accidents involving three deaths, one from electrocution and two, from blunt trauma sustained in falls. Appropriate pilot behavior is briefly discussed.

Non-Pyothorax-Associated Primary Pleural Lymphoma with Complex Karyotypic Abnormalities

We describe a case of non-pyothorax-associated primary pleural lymphoma with bone marrow and central nervous system involvement, and complex karyotypic abnormalities involving nullisomy chromosome 17 and multiple breakpoints that are commonly associated with acute leukemia and myeloproliferative diseases.

Childhood Ki-1 lymphoma : presentation as a buttock mass

Ki-1 lymphoma is a rare, large-cell anaplastic non-Hodgkins lymphoma that most commonly affects older children and young adults. Presentation usually occurs as a localized infiltration of the skin and lymph nodes. We report an unusual case of childhood Ki-1 lymphoma that presented as a buttock mass in an eight-year-old girl, Pathologic evaluation revealed the characteristic lymphoma cells expressing Ki-1 antigen (CD-30), HLA-DR, interleukin 2 (CD-25), T-cell gene rearrangement, and the cytogenetic karyotype t(2;5). The patient is in complete remission following treatment with combination chemotherapy. This report broadens the clinical spectrum associated with Ki-1 lymphomas and illustrates the importance of combining routine pathologic examination with other specialized diagnostic techniques in the evaluation of childhood soft-tissue masses.